Confidential Page 1 23/07/2012
/Login page/
LOGIN
Username* (i.e., email address) [ ]
Password* [ ]
Can’t access your account?1
Login
Don’t have an EPR account. Note that you first have to acquire a Specialist Porphyria Centre ID no from
your participating Porphyria Specialist Centre. Click here for further details
Sign up
1 Reset password protocol
Confidential Page 2 23/07/2012
/Sign up page /
SIGN UP
S1 Specialist Porphyria Centre ID no.2 * [ ]
� (View only) Your associated Porphyria
Specialist Centre is located here3*
Brussels (Belgium)
Leuven (Belgium)
Sofia (Bulgaria)
Prague (Czech Republic)
Viborg (Denmark)
Helsinki (Finland)
Bordeaux (France)
Paris (France)
Chemnitz (Germany)
Düsseldorf (Germany)
Karlsruhe (Germany)
Munich (Germany)
Budapest (Hungary)
Szeged (Hungary)
Dublin (Ireland)
Tel Aviv (Israel)
Milan (Italy)
Modena (Italy)
Rome (Italy)
San Giovanni Rotondo (Italy)
Rotterdam (The Netherlands)
Bergen (Norway)
Warsaw (Poland)
Moscow (Russia)
Barcelona (Spain)
Madrid (Spain)
Stockholm (Sweden)
Zürich (Switzerland)
Ankara (Turkey)
Cardiff (Wales, United Kingdom)
Leeds (United Kingdom)
London (United Kingdom)
Salford (United Kingdom)
� Language 4 Czech
Danish
Dutch
English
2 Supplied by the porphyria centre and required before first time entry into the EPR. Possibly the first two numbers could
indicate country? 3 This is connected to the Specialist Porphyria Centre ID and is view only
4 Drop-down list. Should default to the official language of the country based on specialist centre ID. This will not appear in
the first draft as there is currently no multilingual support. But this is likely to change so we must prepare for this. Maybe
default to the language corresponding to location based on IP address?
Confidential Page 3 23/07/2012
SIGN UP
Hungarian
Hebrew
Italian
Finnish
French
German
Norwegian
Polish
Russian
Spanish
Swedish
Turkish
Please enter your personal details below to register for a password
S2 First name* [ ]
S3 Middle name [ ]
S4 Surname* [ ]
S5 Professional role (tick all that apply) porphyria specialist (physician)
genetic counsellor
researcher/ site coordinator
general practitioner/ primary care physician
gastroenterologist
haematologist
dermatologist
psychiatrist
neurologist
surgeon
other specialist
allied health professional/ nurse
other
S6 Working place (please edit if different form
the porphyria specialist centre)*
[default to specialist porphyria centre ]*
S7 Institution* [ ]
S8 Address street
suburb/town
state/province
[ ]
[ ] postcode [ ]
[ ] country* [autocomplete]5
S9 Phone number [ ]
5 Defaults to country based on specialist centre ID. The list is autocomplete. Source for country code: UN's Standard country
or area codes and geographical regions for statistical use http://unstats.un.org/unsd/methods/m49/m49.htm. Note Also
available in 6 other languages. Three-digit numerical codes used for statistical processing purposes by the Statistics Division
of the United Nations Secretariat and three-digit alphabetical codes assigned by the International Organization for
Standardization (ISO).
Confidential Page 4 23/07/2012
SIGN UP
S10 Email address6* (username) [ ]
SPAM Filtering software notice7
S11 Password* [ ]
See password requirements8
S12 Password confirmation* [ ]
Sign up
6 The users email address is their username
7 EPR-related information communicated through e-mail may be affected by any e-mail filtering “SPAM” software you have
installed on your computer. EPR uses your e-mail address during the Web-based password request process and for
subsequent communication. To ensure that you receive your password confirmation and other important EPR-related
correspondence, you may want to do one of the following:
- Add the mail ___ domain to your e-mail “safe list”.
- If your settings do not allow you to add e-mail addresses to a “safe list,” use the Help section or contact your e-
mail/internet provider's Customer Support to research your configuration options.
- Disable your e-mail filtering “SPAM” software.
- Choose an e-mail account with the least restrictive spam filters, security settings, etc. 8 Passwords contain at least 8 characters. They must have at least one upper-case letter and one number.
Confidential Page 5 23/07/2012
/Homepage/
<username> I Log out
HOMEPAGE
<Display real time statistics here regarding EPR recruitment rates>
General inclusion criteria
Patients with porphyria, with present or previous symptoms and with a confirmed diagnosis
either by DNA-analysis, or if not tested confirmed by standardised biochemical criteria:
Written informed consent
General exclusion criteria
Participants who are unable to understand the study protocol or unable to give informed
consent and have no legal representative.
Patients without a confirmed diagnosis of porphyria either by standardised biochemical criteria
or by DNA-analysis.
Disease specific inclusion criteria: AIP9 I VP I HCP I ADP I PCT I EPP I XLDPP I CEP I HEP
Quick links to Participant Information and Consent forms10
Children (< 12 years)
Adolescents (12 to 16/18)
Adults (>16/18)
About the EPR I Technical difficulties I Contact us I Disclaimer
9 AIP specific inclusion criteria:
Patients with porphyria, with present or previous symptoms and with a confirmed diagnosis either by DNA-analysis, or if
not tested confirmed by standardised biochemical criteria:
- a urine or plasma PBG value greater than the PBG upper reference limit (URL)
- and a negative plasma fluorescence scanning or wavelength less than 623 nm
- and a fecal coproporphyrin isomer III:I ratio less than 2.0, or if not available, the fecal coproporphyrin less than the
corresponding URL.
Presymptomatic mutation carriers confirmed by DNA-analysis demonstrating inheritance of a disease-related sequence
variant in the hydroxymethylbilane gene. 10
The participant info consent forms are country specific – and routed by help of specialist centre code
Enrolment of a new EPR
participant
Enter data (enrol)
Access or enter new data for
existing EPR participant
Enter data
Enter a new event
View/ edit previous entries
Complete previous entry
Reports
Statistical reports of the EPR
Go To
EPR Protocol (Synopsis)
Overview of your participants
Confidential Page 6 23/07/2012
/Enrolment page/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I LAB I
FAMILY11
ENROLMENT OF A NEW EPR PARTICIPANT
Patient information and consent form
E1 Register the patient’s date of birth to obtain
an age related print out of the consent
form*12
[dd/mm/yyyy] 13
E2 Written consent given* yes
no14 (the patient cannot be registered)
Previous Next – Creation of an EPR ID No.
Delete and close Save I Save and close
11
Where the tabs feature on the page and how they look will require some thought in web design. The tabs are interactive
in that they show all pages that have been visited and the user will visit. This is dependent on the module. Users can click
backwards, but not forwards (???) 12
Following the registration of the patients DOB the browser’s print method is automatically invoked. Also display message:
“Please store the original consent form in the patient file and provide a copy to the participant. If required send a copy to
your porphyria specialist centre.” 13
After entering the age, the computer is prompted to print the age appropriate PICF. Age groups may change from country
to country according to local ethics regulations 14
Directed to E1
Confidential Page 7 23/07/2012
/EPR ID No. separate window/
CREATION OF THE PATIENT’S EPR ID NO.15
You are about to create the patient’s unique identifier/pseudonym, known as the patient EPR ID no. These
details have been written by the patients in the consent form. PLEASE TAKE GREAT CARE TO ENTER THIS
INFORMATION ACCURATELY, INCLUDING CORRECT SPELLING OF NAMES, as this will avoid the generation of
multiple EPR ID numbers for the same participant. Note that this personal data will never be stored within the
server database.
For more information about generating the EPR ID no, please see (link)16
Participant identification17
ID1 First name at birth* [ ]
ID2 Surname at birth*
OR
If the patient does not have a surname,
specify their patronym
[ ]
ID3 Current surname (if different from above) [ ]
ID4 Date of birth* [dd/mm/yyyy]
ID5 City of birth* [ ]
ID6 Country of birth* [ ]
Optional: you can choose to add the following for your own records
ID7 National ID no. [ ]
ID8 Address street
Suburb/town
postcode
country
[ ]
[ ]
[ ] state/province[ ]
[autocomplete ]18
You will be prompted to print this information after the creation of the EPR ID No. for your confidential records.
15
Appears when user indicates consent is given for a new subject or when a user indicates they have forgotten the
patient’s EPR ID No. This is a separate form opened in a separate window. 16
This links to a separate page. “From these personal data the EPR ID No. is calculated, consisting of a series of <8> digits.
The following personal data are used: first name at birth, surname at birth, date of birth, city of birth and country of birth.
Example: John Smith, born 21.04.1970 in Brighton, United Kingdom. This information results in the EPR ID No. 42-54-91-32.
Importantly, the pseudonym is created on the basis of a so-called ‘cryptographic hash function’. By this mathematical
operation a unique value is assigned during a complicated, one-way procedure. The mathematical algorithm used ensures
that nobody (not even the system programmer) can reconstruct from the result (the EPR ID No.) the information which was
used to generate the EPR ID No. in the first place. The personal data transmitted to generate the EPR ID No. are held only
for the calculation of the EPR ID No. in the working memory of a server. The calculation of the EPR ID No. requires only
milliseconds. Viewing personal data during this time is impossible. Thereafter all data used to create the EPR ID No. are
permanently erased from the working memory of the server so that no identifying details remain; data used to generate
the pseudonym are never stored in any form of permanent memory (e.g. on the hard drive). Following this, all database
entries and every use of data is exclusively carried out under the assigned EPR ID No. 17
To help avoid multiple entries, blanks, upper cases, and special characters are stripped 18
Autocomplete. Source for country code: UN's Standard country or area codes and geographical regions for statistical use
http://unstats.un.org/unsd/methods/m49/m49.htm.
Confidential Page 8 23/07/2012
CREATION OF THE PATIENT’S EPR ID NO.15
It is extremely important that you do not loose this as it is the easiest way to link the exact unique identifying
information to the participant’s EPR ID No. This information is to be kept securely with the patient consent form
in the patient’s personal file.
Create EPR ID No.
19
19 when a doctor clicks 'enter new event' under the 'access or enter new data for existing EPR participant' tile (from the
homepage) and then the 'I have forgotten the patient's EPR ID No.' on the Enter Event page, the EPR prevents them from
creating a new EPR ID No (ie., only allowed to match to a current participant EPR ID No). If they enter data that does not
match an existing EPR ID No. they receive the following error message: 'the participant cannot be found. Are you certain
the patient has been previously entered?'
- if yes, then 'please check for any errors in the above fields marked in red (note: fields are not case sensitive)', and if
incorrect again 'We are sorry, but we still cannot find the participant in the database, and the patient's visit cannot be
currently entered. Please either find the patient's <8> digit EPR ID No., which should be contained in a print out in the
patient's personal file, or contact your EPR coordinator at your local porphyria specialist centre for further assistance. It is
also possible the patient has a print out of their EPR ID No. What would you like to do: () enter the patient's EPR ID No., ()
go back to the homepage, or () leave the EPR.
- if no, then directed to the enrolment of a new EPR participant page.
Confidential Page 9 23/07/2012
/Enter event page/
HOMEPAGE I ENTER EVENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I LAB I
FAMILY HISTORY
ENTER EVENT20
E3 Patient’s EPR ID No.* [ ]21
I have forgotten the participant’s EPR ID No.22
Dates of entry
Date of data entry [dd/mm/yyyy] 23
Dates of previous entries 1.
2.
[dd/mm/yyyy]24
[dd/mm/yyyy]
etc…
Back Next – Personal Characteristics
Delete and close Save I Save and close
20
This is the first page to appear for those entering data for an existing EPR subject. 21
Pre-populated for physicians who have generated the EPR ID No. on the previous page. For physicians entering data for
an existing patient, if they enter data that does not match an existing EPR ID No. they receive an error message, telling
them 'the participant cannot be found. You can find the number in a print out in the patient's personal file. Either try
entering the number again, or click on ‘I have forgotten the participant’s EPR ID No.’ and re-enter their information as
written on their consent form. 22
This is only displayed if the EPR ID No. has not been prepopulated (i.e., only for users entering data for an existing EPR
subject). Users who have forgotten the EPR ID No. are directed to ‘Creation of the Patient’s EPR ID No.’ page. They are also
flagged in the database for quality assurance to ensure they have not made a mistake when re-entering the data.
If this is selected, the EPR prevents the user from creating a new EPR ID No (ie., only allowed to match to a current
participant EPR ID No). 23
Recorded automatically 24
If relevant
Confidential Page 10 23/07/2012
/Personal characteristics page/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I LAB I
FAMILY
PATIENT’S PERSONAL CHARACTERISTICS25
PC1 Date of birth* [dd/mm/yyyy]26
PC2 Sex* female
male
PC3 Country of residence [autocomplete ]27 unknown
Geographical region28 Europe
Eastern Europe
Northern Europe
Southern Europe
Western Europe
Africa
Eastern Africa
Middle Africa
Northern Africa
Southern Africa
Western Africa
Americas
Latin America and the Caribbean
Caribbean
Central America
South America
Northern America
Asia
Central Asia
Eastern Asia
Southern Asia
South-Eastern Asia
Western Asia
Oceania
Australia and New Zealand
Melanesia
Micronesia
Polynesia
unknown
PC4 Family history of porphyria known? yes
no
unknown
PC5 Number of children [ ]29 unknown
25
Administered consecutively, but details from the previous session are prepopulated and editable 26
Prepopulated from previous entry on enrolment page 27
Display default country based on specialist centre ID No. given 28
Not displayed but coded automatically from country (e.g., IF Greece THEN Southern Europe) 29
Family module section will reflect the input given here
Confidential Page 11 23/07/2012
PATIENT’S PERSONAL CHARACTERISTICS25
�30 PC5.1 (If yes) Year of birth – child one [yyyy] 31 unknown
PC6 Total number of pregnancies [ ]32 unknown
If the patient has died
PC7 Date of death* [dd/mm/yyyy]
� PC7.1 Was the death caused by porphyria
or complication of porphyria/
treatment for porphyria?*
yes
no
unknown
� � PC7.1.1 (If yes) Comment [ ]33
� PC7.2 Primary cause of death*34 cardiovascular diseases
hypertensive heart disease
Ischaemicischemic heart
disease
cerebrovascular disease
inflammatory heart disease
other cardiovascular
diseases
rheumatic heart disease
malignant neoplasms
colon and rectum cancers
breast cancer
prostate cancer
liver cancer
hepatocelluar
carcinoma
other primary liver
cancer
metastatic liver
cancer
trachea, bronchus, lung
cancers
melanoma and other skin
cancers
bladder cancer
lymphomas, multiple
myeloma
other malignant neoplasms
respiratory diseases
respiratory infections
unknown
30
Red arrows indicate branching questions 31
Field is expanded based on number of children 32
Field is only expanded if female (contingency question) 33
Text box is expanded according to the input 34
Drop-down list
Confidential Page 12 23/07/2012
PATIENT’S PERSONAL CHARACTERISTICS25
diseases of the digestive system
cirrhosis of the liver
peptic ulcer disease
Other digestive diseases
unintentional injuries
intentional injuries
suicide
other intentional injuries
other, specify [ ]
� PC7.3 Additional comments about cause
of death
[ ]35
Back Next – to diagnosis
Delete and close Save I Save and close
35
Text box is expanded according to the input
Confidential Page 13 23/07/2012
/Diagnosis page 1/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I LAB I
FAMILY
PORPHYRIA DIAGNOSIS I CLINICAL SETTING CRITERIA I PBG AT DIAGNOSIS I DNA ANALYSIS I
PORPHYRIA DIAGNOSIS 36
D1 Porphyria diagnosis* 37 Acute:
acute intermittent porphyria (AIP)
variegate porphyria (VP)
hereditary coproporphyria (HCP)
ALA dehydratase deficiency (ADP)
Non-acute porphyrias:
porphyria cutanea tarda (PCT)
erythropoietic protoporphyria (EPP)
x-linked dominant protoporphyria (XLDPP)
congenital erythropoietic (CEP)
hepatoerythropoietic porphyria (HEP)
Clinical Status38
D2 Does the patient have current symptoms consistent with
an acute attack of porphyria39 *
yes
no
D3 Has the patient previously had one or more diagnosed
acute porphyria attacks requiring hospitalisation? 40* yes
no
� D3.1 (If yes) Year of first episode [yyyy] unknown
� D3.2 Number of subsequent episodes [ ] unknown
� D3.3 Elevated u-PBG or pl-PBG concentrations
recorded in relation to at least one acute attack*
yes
no
� D3.4 (If yes to D2 or D3) Did the patient have any
acute illness of unknown cause consistent with
an acute attack of porphyria before the
diagnosis of <AIP>41 was made
yes
no
unknown
36
Baseline data. Details from the previous sessions are accessible if errors need to be corrected 37
Only AIP patients will initially be included in the study 38
Diagnosis algorithm: Patients with porphyria, with present or previous symptoms and with a confirmed diagnosis either
by DNA-analysis, or if not tested confirmed by standardised biochemical criteria:
- a urine or plasma PBG value greater than the PBG upper reference limit (URL)
- and a negative plasma fluorescence scanning or wavelength less than 623 nm
- and a fecal coproporphyrin isomer III:I ratio less than 2.0. Or if not available, the fecal coproporphyrinless than the
corresponding URL.
OR Presymptomatic mutation carriers confirmed by DNA-analysis demonstrating inheritance of a disease-related sequence
variant in the hydroxymethylbilane gene. 39
Not a baseline data element. Linked to G30 in the database (same variable). D2 is shown the first time a patient is
registered. However on subsequent data entries, doctors see and complete G30. Data is stored in the same variable. 40
Not a baseline data element. Linked to G30.1.1 in the database (same variable). D3 is shown the first time a patient is
registered. However on subsequent data entries, doctors see and complete G30.1.1. Data is stored in the same variable.
Thus this data element appears only for the first data entry. 41
This should be linked to D1 acute forms so that it corresponds to the input of the diagnosis.
Confidential Page 14 23/07/2012
PORPHYRIA DIAGNOSIS 36
� � D3.4.1 (If yes) Year of first episode [yyyy] unknown
� � D3.4.2 Total no. of episodes [ ] unknown
Back Next – Assessment
Delete and close Save I Save and close
Confidential Page 15 23/07/2012
/Diagnosis page 2/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I LAB I
FAMILY
PORPHYRIA DIAGNOSIS I CLINICAL SETTING CRITERIA I PBG AT DIAGNOSIS I DNA ANALYSIS I
PORPHYRIA DIAGNOSIS 42
DNA Analysis
D4 HMBS mutation * 43 positive
negative
not tested
� D4.1 If positive, which mutation [autocomplete]* 44
� � D4.1.1 (If entered a
new mutation)
This mutation
is not listed in
our database,
please specify:
mutation:
evidence:
reference:
[ ] (*)
[ ]
[ ]
e.g. c.0003G>T
e.g. cDNA
amplification
e.g. Kauppinen
2002 Clin Chem,
1891
unknown
unknown
� � D4.1.2 Comment [ ]45
� � D4.1.3 If tested, date of analysis [dd/mm/yyyy] unknown
Biochemical data
PBG at time of porphyria diagnosis (or if not available, the earliest test result available – even if today)
D5 Urine PBG (*) concentration*
upper reference
limit*
date of
[ ]
[ ]
[dd/mm/yyyy]
μmol/mmol creatinine*
Other unit, choose46(*) ����
mmol/mol creatinine
µmol/g creatinine
mg/g creatinine
µmol/L
µg/L
mg/L
mg/dL
42
Baseline data. Details from the previous sessions are accessible if errors need to be corrected and/or to add missing data.
Otherwise this section only appears the first time for each participant. 43
If ‘no’ to D2 AND D3 AND ‘negative’ or ‘not tested’ to D4 then display the following message: ”The patient presently does
not fulfil the diagnostic criteria for registration in the EPR. You can continue to complete the form and your progress and
the patient’s data will be saved, which can be accessed and finalised when the inclusion criteria for the diagnosis of AIP is
fulfilled” 44
Linked to column of known mutations listing position, sequence and, if available, mutation (e.g., c.0003G>T). As this will
be updated over time, new entries are allowable 45
Text box is expanded according to the input 46
List is only expanded when other is nominated. A warning can be displayed suggesting that μmol/mmol creatinine is the
recommended unit for reporting
Confidential Page 16 23/07/2012
PORPHYRIA DIAGNOSIS 42
measurement
D6 Plasma PBG (*) concentration(*)
upper reference
limit(*)
date of
measurement
[ ]
[ ]
[dd/mm/yyyy]
µmol/L*
Other unit;
[ ](*)
� D6.1 (u-PBG or pl-PBG < URL)
Please report here if the
patient at a later stage has
presented with increased
PBG concentration (*)47
Concentration
upper reference
limit
date of
measurement
[ ]
[ ]
[dd/mm/yyyy]
u-PBG
μmol/mmol 48creatinine*
Other unit, choose49(*)
mmol/mol creatinine
µmol/g creatinine
mg/g creatinine
µmol/L
µg/L
mg/L
mg/dL
pl-PBG
µmol/L*
Other unit;
[ ](*)
Further Biochemical Diagnosis 50
D7 (If ‘yes’ to D2 or D3 AND ‘negative’ or ‘not
tested’ to D4), HCP and VP excluded? (*)
yes
no51
� D7.1 (If yes) Plasma scan: wavelength of fluorescence emission
peak if positive: [ ] (*)52
negative*
47
Displayed for all. However, If PBG concentration < URL AND ‘yes’ to D2 OR D3.3 AND ‘negative’ OR ‘not tested’ to D4 AND
age > 8yrs then this is required. 48
List to the left is expanded after selecting either u-PBG or pl-PBG. 49
List is only expanded when other is nominated. A warning can be displayed suggesting that μmol/mmol creatinine is the
recommended unit for reporting 50
Items D7 to D7.1.2.1 appear IF ‘not tested’ OR ‘negative’ to D6 and ‘yes’ to D2 AND/OR D3. 51
Display the following message: ”The patient presently does not fulfil the diagnostic criteria for registration in the EPR.
You can continue to complete the form and your progress and the patient’s data will be saved, which can be accessed and
finalised when the inclusion criteria for the diagnosis of AIP is fulfilled” 52
If reported positive value > 623 nm then display the following message: ”The patient presently does not fulfil the
diagnostic criteria for registration in the EPR. You can continue to complete the form and your progress and the patient’s
data will be saved, which can be accessed and finalised when the inclusion criteria for diagnosis of AIP is fulfilled”
Confidential Page 17 23/07/2012
PORPHYRIA DIAGNOSIS 42
date of measurement [dd/mm/yyyy]
� D7.1.1 Fecal coproporphyrin isomer III:I ratio
upper reference
limit
date of
measurement
[ ] (*) 53
[ ] (*)
[dd/mm/yyyy]
unknown
� � D7.1.1.1 (If total fecal CIII:I is
unknown) Fecal
coproporphyrin54
concentration
upper reference
limit
date of
measurement
[ ](*)55
[ ](*)
[dd/mm/yyyy]
nmol/g dry(*)
weight
other unit; (*)
[ ]
unknown
History of possible previous acute symptoms
D8 (If ‘no’ to D2 and D3) Has the patient ever
had acute abdominal pain of unknown
cause for two or more days requiring
hospitalisation?
yes
no
unknown
D9 (If ‘no’ to D3.3) Following diagnosis, has the
patient ever had acute abdominal pain for
two or more days requiring hospitalisation
that at the time was attributed to their
<AIP>56 57
yes
no
unknown
� D9.1 (If ‘no’ to D2 and D3 OR ‘yes to
D3.3 AND If ‘yes’ to D9) record
year of first/only episode
[yyyy] unknown
� D9.2 (If ‘no’ to D2 and D3 OR ‘yes to
D3.3) Duration of first/only
episode
[ ], in days
unknown
� D9.3 (If ‘no’ to D2 and D3) Was a yes unknown
53
If reported a fecal coproporphyrin isomer III:I ratio > 2.0 display the following message: ” The patient presently does not
fulfil the diagnostic criteria for registration in the EPR. You can continue to complete the form and your progress and the
patient’s data will be saved, which can be accessed and finalised when the inclusion criteria for diagnosis of AIP is fulfilled” 54
Fecal coproporphyrin(TFP) only displayed if fecal CIII:I is not completed (i.e., detected when clicking ‘next’ or is unknown.
The CIII:I ratio is preferable, but since these are historical data, it may not be available for all patients. 55
If reported a fecal coproporphyrin< the corresponding URL display the following message: ” The patient presently does
not fulfil the diagnostic criteria for registration in the EPR. You can continue to complete the form and your progress and
the patient’s data will be saved, which can be accessed and finalised when the inclusion criteria for diagnosis of AIP is
fulfilled” 56
Link to D1 (acute forms only) 57
Prepopulated with a cross for ‘Yes’ and option to change
Confidential Page 18 23/07/2012
PORPHYRIA DIAGNOSIS 42
surgical intervention performed no
� � D9.3.1 (If yes) Record surgical
action
[autocomplete]58 unknown
� D9.4 (If ‘no’ to D2 and D3 OR ‘yes to
D3.3) Pain episode associated with
(tick all that apply)
nausea and/or vomiting
muscle and back pain
sensory loss
motor paresis (including
impairment of bulbar or
respiratory function)
tachycardia
hypertension
hyponatremia
hypomagnesemia
behavioural changes
unknown
� D9.5 (If ‘no’ to D2 and D3 OR ‘yes’ to
D3.3) Was opiate analgesia
required
yes
no
unknown
� D9.6 (If ‘no’ to D2 and D3 OR ‘yes’ to
D3.3) Total number of episodes
[ ], unknown
� D9.7 (If ‘no’ to D2 and D3 OR ‘yes’ to
D3.3) Average duration of episodes
[ ], in days unknown
� D9.8 (If ‘no’ to D2 and D3) According to
these symptoms and sign
constellations, do you consider it
likely that the patient has
previously had an acute attack(s)? 59
yes, very confident
yes, moderately confident
uncertain
no, moderately confident
no, very confident
Back Next – Assessment60
Delete and close Save I Save and close
58
List should be developed (e.g., Appendectomy/ Oophorectomy etc..) 59
Routed to General Assessment and then module 2 60
Error message for any mandatory fields that not completed according to the diagnostic algorithm (e.g., negative or not
tested to D4, age > 8 years, and urine (D4) or plasma (D5) PBG is not complete then display message: ‘Details of <__> must
be provided to register the patient in the EPR. You can continue filling out the form and your progress will be saved, but you
must provide this information at a later stage for the event to be included in the EPR”
Confidential Page 19 23/07/2012
/General Assessment page 1/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I
LAB I FAMILY
GENERAL ASSESSMENT, LIVER AND KIDNEY FUNCTION I FUNCTIONAL CAPACITY I LIFESTYLE AND
DRUGS I ASSESSMENT MODULE
GENERAL ASSESSMENT61
G1 Date of visit/assessment* [dd/mm/yyyy] 62
G2 Reason for visit 63*
routine follow-up
treatment - current symptoms
treatment - chronic symptoms
prophylactic treatment - chronic symptoms/repeated
attacks
other, specify [ ]
G3 Did you personally attend to the patient? yes
no
� G3.1 (If no) Comment on how the data
was obtained
[ ]64
G4 Attendance/ Admission to health service* outpatient
inpatient
unknown
� G4.1 (If ‘inpatient’) Record length of stay [ ], in days
months
unknown
G5 (If the patient is female) Record menstrual
status 65
premenarche
regular menses
perimenopausal
postmenopausal
unknown
G6 (If patient is pregnant) Record month of
pregnancy 66
[ ] month unknown
Note: urine OR plasma PBG must be provided to register the visit
G7 Urine PBG (at present visit) (*) concentration
upper
reference limit
[ ]*
[ ]*
μmol/mmol creatinine (*)
Other, choose67 (*):
mmol/mol creatinine
µmol/g creatinine
mg/g creatinine
G8 Plasma PBG (at present visit) (*) concentration [ ](*) µmol/L(*)
61
Administered consecutively, but relevant baseline entries from the previous session are prepopulated and editable 62
Displays today’s date automatically but editable 63
Please select the reason that best describes the visit 64
Text box is expanded according to the input 65
Compound question: only asked IF “female” 66
Compound question: only asked IF “female” 67
List is only expanded when other is nominated. Maybe a warning is displayed suggesting that μmol/mmol creatinine is
the recommended measurement value
Confidential Page 20 23/07/2012
GENERAL ASSESSMENT61
upper
reference limit
[ ](*)
other [ ](*)
G9 Urine ALA (at present visit) concentration
upper
reference limit
[ ]
[ ]
µmol/mmmol creatinine
Other, choose:68
mmol/mol creatinine
µmol/g creatinine
mg/g creatinine
G10 Plasma ALA (at present visit) concentration
upper
reference limit
[ ]
[ ]
µmol/L
other [ ]
G11 Blood pressure [sys/ dia] unknown
G12 Pulse rate [ ] per min unknown
G13 Height [ ] cm unknown
G14 Weight [ ] kg unknown
� BMI 69 [ ]
Kidney and liver function
G15 Serum creatinine [ ] μmol/L URL [ ] unknown
G16 Estimated GFR [ ] URL [ ] unknown
G17 Dialysis yes
no
unknown
G18 Post-kidney transplant yes
no
unknown
G19 Hepatoma screening performed regularly 70*
yes
no
unknown
(If yes) Record if the following procedures are performed and with what frequency
� G19.1 Alpha-foeto-protein (*) yes, every [ ]
no
month(s)
year(s)
unknown
� G19.2 Liver ultrasound (*) yes, every [ ]
no
month(s)
year(s)
unknown
� G19.3 Liver MRI (*) yes, every [ ]
no
month(s)
year(s)
unknown
� G19.4 Liver CT (*) yes, every [ ]
no
month(s)
year(s)
unknown
68
List is only expanded when other is nominated. Maybe a warning is displayed suggesting that μmol/mmol creatinine is
the recommended measurement value 69
Calculated automatically (calculate BMI: HEIGHT/ WEIGHT² (kg/m² ). 70
Sub data elements are only mandatory if hepatoma screen is carried out
Confidential Page 21 23/07/2012
GENERAL ASSESSMENT61
G20 Has the patient had a hepatoma?* yes
no
unknown
� G20.1 (If yes) Record year of diagnosis* [yyyy] unknown
� G20.2 Year and modality of primary
treatment*
[yyyy] liver resection
radiofrequency ablation
liver transplantation
unknown
other, specify [ ]
� G20.3 Recurrence yes, when [yyyy]
no
unknown
Back Next71
Delete and close Save I Save and close
71
If age > 8 years and urine or plasma PBG is not complete then display message: ‘Details of urine (G7) OR plasma (G8) PBG
must be provided to register the event in the EPR. You can continue filling out the form and your progress will be saved, but
you must provide this information at a later stage for the event to be included in the EPR”
Confidential Page 22 23/07/2012
/General Assessment page 2/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I
LAB I FAMILY
GENERAL ASSESSMENT, LIVER AND KIDNEY FUNCTION I FUNCTIONAL CAPACITY I LIFESTYLE AND
DRUGS I
GENERAL ASSESSMENT72
Functional Capacity
G21 Occupation normal
reduced capacity for usual job
marginal work only
unable to work
G22 Rate on a scale from 0 to 100% the patient’s performance status
normal no complaints; no evidence of health problems 100%
able to carry on normal activity; minor health problems 90%
normal activity with effort; some health problems 80%
cares for self; unable to carry on normal activity or to do active work 70%
requires occasional assistance, but is able to care for most of his personal needs 60%
requires considerable assistance and frequent medical care 50%
in bed more than 50% of the time 40%
almost completely bedfast 30%
totally bedfast and requiring extensive nursing care by professionals and/or family 20%
comatose or barely arousable 10%
dead 0% Back Next
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72
Administered consecutively, but relevant details from the previous session are prepopulated and editable
Confidential Page 23 23/07/2012
/General Assessment page 3/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I
LAB I FAMILY
GENERAL ASSESSMENT, LIVER AND KIDNEY FUNCTION I FUNCTIONAL CAPACITY I
LIFESTYLE AND DRUGS I
GENERAL ASSESSMENT73
Lifestyle factors and drugs
G23 Alcohol use yes
no
unknown
� G23.1 Units per week (1 unit =
approx 10 grams of alcohol)74
< 1
1 – 5
6 – 10
11 – 20
> 20
unknown
G24 Smoking status (tobacco) never smoked
former smoker
current smoker
unknown
� G24.1 Cigarettes /day [ ] unknown
� G24.2 Age when smoking began [ ] unknown
� G24.3 Age when smoking finished75 [ ] unknown
� G24.4 Smoking duration76 [ ] unknown
G25 Snus use (Sweden and Norway only) yes
no
unknown
� G25.1 (If yes) Type loose snus
portion snus
unknown
� G25.2 Portions /day [ ] unknown
G26 Select all prescribed and over the counter medication the patient is taking 77
73
Relevant details from previous session are displayed and editable 74
For example: 1 small glass of beer = 1 unit, 1 medium glass of wine = 2 units, 1 shot of spirits = 1 unit, 1 bottle of wine = 9
units 75
Compound question: only asked if former smoker 76
Calculated automatically from previous two items. If the patient is a current smoker, calculated from date of visit. 77
Autocomplete. Linked to ATC drug codes. Expanded for multiple entries
Confidential Page 24 23/07/2012
GENERAL ASSESSMENT73
Drug
(Generic name)
Strength78
Dose
(e.g. 150mg
Frequency
x 2)
Dose given
by
Route of
administrati
on
Started
(dd/mm/yyyy)
[autocomplete/drop-
down]79
[ ] [ x ] daily80
weekly
monthly
3 monthly
other
PO
IV
SC
topical
inhalation
other
[dd/mm/yyyy]
[autocomplete/drop-
down]
[ ] [ x ] daily81
weekly
monthly
3 monthly
other
PO
IV
SC
topical
inhalation
other
[dd/mm/yyyy]
[autocomplete/drop-
down]
[ ] [ x ] daily82
weekly
monthly
3 monthly
other
PO
IV
SC
topical
inhalation
other
[dd/mm/yyyy]
G27 Recreational/ Illicit drug use yes
no
unknown
� G27.1 (If yes) Which (tick all that apply)
78
Only complete for when dose is difficult to calculate 79
This is derived from The Drug database and coded by ATC code. Additional information from this database includes the
type of drug, e.g., Enprostil (code: A02BB02) is classified as ‘Drugs for acid related disorders’; and the classification of risk:
Not porphyrinogenic (NP), Probably not porphyrinogenic (PNP), Possibly porphyrinogenic (PSP), Probably porphyrinogenic
(PRP), Porphyrinogenic (P), and Not yet classified (NC). Further info at
http://www.whocc.no/atc/structure_and_principles/. 80
Drop-down list, but ‘day’ is the default value 81
Drop-down list, but ‘day’ is the default value 82
Drop-down list, but ‘day’ is the default value
Confidential Page 25 23/07/2012
GENERAL ASSESSMENT73
Drug
(tick all that apply)
Frequency83
Route of
administration84
Started
(dd/mm/yyyy)85
Cannabis/ marijuana (non-medical use)
MDMA ”ecstasy” (stimulant)
Amphetamines “speed”(stimulant)
GHB (stimulant)
Cocaine (stimulant)
Opiates (e.g, heroin or morphine)
Depressants “downers” (barbiturates)
LSD (hallucinogen)
Psychedelic mushrooms (hallucinogen)
Solvents (e.g., glue sniffing)
Other, specify [ ]
< monthly
monthly
weekly
daily
inhalation
PO
IV
SC
other
[mm/yyyy]
G28 Complementary or alternative
medicines
Yes
No
unknown
� G28.1 (If yes) Specify (tick all
that apply)
herbal medicine
vitamins and minerals
acupuncture
naturopathy
homeopathy
meditation
other, specify [ ]
� � G28.1.1 (If yes to herbal medicine or vitamins and minerals) List all herbal medicine/ non-
proprietary drugs the patient is taking now.
83
Drop down lists, appears for each ticked drug 84
Drop down lists, appears for each ticked drug 85
appears for each ticked drug
Confidential Page 26 23/07/2012
GENERAL ASSESSMENT73
Name herbal medicine / non-proprietary
drug(s) 86
Frequency87
Route of
administration88
Started
(mm/yyyy)
[ ] > yearly
yearly
monthly
weekly
daily
tablets/ capsules
powders
teas
extracts
fresh or dried
plants
topical
other
[mm/yyyy]
[ ] < yearly
yearly
monthly
weekly
daily
tablets/ capsules
powders
teas
extracts
fresh or dried
plants
topical
other
[mm/yyyy]
[ ] less often than
yearly
yearly
monthly
weekly
daily
tablets/ capsules
powders
teas
extracts
fresh or dried
plants
topical
other
[mm/yyyy]
G29 Does the patient have any ongoing
disorder with or without current
treatment?
yes
no
unknown
� G29.1 (If yes) Which? (tick all that
apply)
[drop-down list]89
� G29.2 Additional comments about the patient’s
comorbidities
[ ]90
Clinical status
G30 Does the patient have current symptoms consistent with an
acute attack of porphyria?91*
yes92
86
Appears if true to herbal medicines or vitamins and minerals, expands based on entry 87
Drop down lists 88
Drop down lists 89
Coding system to be developed 90
Text box is expanded according to the input
Confidential Page 27 23/07/2012
GENERAL ASSESSMENT73
no
� G30.1 If no, is the patient under long term treatment for
repeated acute attacks (4 or more acute attacks
requiring hospitalisation per year) or preventive
treatment with or without acute episodes?*93
yes94
no
� � G30.1.1 If no, has the patient previously had one
or more acute porphyria attack(s)
requiring hospitalisation? 95*
yes
no96
� � � G30.1.1.1 (If yes) Elevated u or pl-PBG
concentrations recorded in
relation to at least one acute
attack*97
yes98
no99
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91
Linked to D2 in the database (same variable). D2 is shown the first time a patient is registered. However on subsequent
data entries, doctors see and complete this data element. Data is stored in the same variable. Note: G30.1 is always shown
here– independent of G30 being shown here or in the Diagnostics section. 92
Directed to Module 1 93
N.B., This is the same data element as A54, and should be coded into the same variable. 94
Directed to Module 2 95
Linked to D3 in the database (same variable). D3 is shown the first time a patient is registered. However on subsequent
data entries, doctors see and complete this data element. Data is stored in the same variable. Note further: This variable
should not be displayed if acute attacks have previously been confirmed by
1) previous completion of the acute attack module (module 1)
2) previous completion of the chronic module (module 2)
3) previously responding yes to elevated u-PBG concentration to this variable (‘yes’ to D3.3)
IF a previous acute attack has been confirmed, then the doctor should be routed directly into Module 2 when having
responded No to G30 and G30.1. 96
Directed to module 2 97
Linked to D3.3 in the database (same variable). D3.3 is shown the first time a patient is registered. However on
subsequent data entries, doctors see and complete this data element. Data is stored in the same variable. Otherwise, same
criteria for displaying this item are as stated in the above footnote. 98
Directed to Module 2 99
Directed to module 2
Confidential Page 28 23/07/2012
/Module 1 - web page 1/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I
LAB I FAMILY
GENERAL ASSESSMENT, LIVER AND KIDNEY FUNCTION I FUNCTIONAL CAPACITY I LIFESTYLE AND
DRUGS
SYMPTOMS AND FINDINGS I NEUROLOGICAL ASSESSMENT I PROVOKING FACTORS I OTHER
COMPLICATIONS I SEVERITY I TREATMENT I
MODULE 1
A1 Month and year of previous attack*100 [mm/yyyy] unknown
A2 Date of onset of current symptoms* [dd/mm/yyyy] unknown
Symptoms and findings
Pain
A3 Abdominal pain yes
no
unknown
A4 Back pain yes
no
unknown
A5 Lower limbs pain yes
no
unknown
A6 Other pain (1), specify [ ]101
A7 The patient reports no pain102 yes
no
unknown
Analgesia
A8 Non-opiate analgesia only yes
no
unknown
A9 Opiate analgesia yes
no
unknown
A10 No analgesia yes
no
unknown
Other symptoms
A11 Nausea Yes
No
unknown
A12 Vomiting Yes
No
unknown
A13 Constipation Yes
No
unknown
A14 Diarrhoea Yes
No
unknown
100
Appears if answered yes to previous attack asked previously in the diagnosis section 101
This list will be expanded one point at a time 102
Not possible IF selected ”Yes” to A2 to A5
Confidential Page 29 23/07/2012
MODULE 1
A15 Headache yes
no
unknown
A16 General malaise yes
no
unknown
A17 Fatigue yes
no
unknown
A18 Depressive symptoms yes
no
unknown
A19 Anxiety yes
no
unknown
A20 Insomnia yes
no
unknown
A21 Confusion yes
no
unknown
A22 Irritability yes
no
unknown
A23 Hallucinations yes
no
unknown
A24 Visual problems yes
no
unknown
A25 Other symptom (1), specify [ ]103
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103
This list will be expanded one point at a time
Confidential Page 30 23/07/2012
/Module 1 - web page 2/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I
LAB I FAMILY
GENERAL ASSESSMENT AND KIDNEY FUNCTION I FUNCTIONAL CAPACITY I LIFESTYLE AND DRUGS
SYMPTOMS AND FINDINGS I NEUROLOGICAL ASSESSMENT I PROVOKING FACTORS I OTHER
COMPLICATIONS I SEVERITY I TREATMENT I
MODULE 1
Neurological assessment
A26 Sensory impairment yes
no
unknown
A27 Peripheral neuropathy yes
no
unknown
� A27.1 (If yes) Pain yes
no
unknown
� A27.2 Paresthesias yes
no
unknown
A28 Paresis yes
no
unknown
� A28.1 (If yes) Record where? (tick all that
apply)
upper extremities
lower extremities
respiratory muscle paresis
cranial nerve lesions
bulbar paresis
other, specify
unknown
[ ]
A29 Urinary retention yes
no
unknown
A30 Urinary incontinence yes
no
unknown
A31 Convulsions yes
no
unknown
A32 Decreased consciousness yes
no
unknown
A33 Psychosis yes
no
unknown
A34 Other neurological assessment (1) , specify [ ]104
A35 EMG normal
abnormal, comment [ ]105
not performed
104
This list will be expanded one point at a time 105
Text box is expanded according to the input
Confidential Page 31 23/07/2012
MODULE 1
A36 EEG normal
abnormal, comment [ ]106
not performed
A37 Cerebral CT normal
abnormal, comment [ ]107
not performed
A38 Cerebral MRI normal
abnormal, comment [ ]108
not performed
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106
Text box is expanded according to the input 107
Text box is expanded according to the input 108
Text box is expanded according to the input
Confidential Page 32 23/07/2012
/Module 1 - web page 3/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I
LAB I FAMILY
GENERAL ASSESSMENT AND KIDNEY FUNCTION I FUNCTIONAL CAPACITY I LIFESTYLE AND DRUGS
SYMPTOMS AND FINDINGS I NEUROLOGICAL ASSESSMENT I PROVOKING FACTORS , OTHER
COMPLICATIONS AND SEVERITY I TREATMENT I
MODULE 1
Potential provoking factors (Note: other potentially provoking factors, such as drugs, have been
previously collected under the general assessment section)
A39 Days since start of last menses 109 [ ] days unknown
Which of the following events occurred prior to the acute attack:
A40 Fasting in the previous 7 days yes
no
unknown
A41 Infection in the previous 7 days yes
no
unknown
A42 Excessive drinking during previous 7 days
preceding attack 110
yes
no
unknown
A43 Recent psychological stress (last 2 weeks)? yes
no
unknown
A44 Recent physical stress (last 2 weeks)? yes
no
unknown
� A44.1 (If yes) Specify which [ ]
A45 Other possible provoking factor 1, specify [ ]111
Other complications
A46 Lowest serum sodium recorded during
hospital stay
concentration* (µmol/L)
lower reference limit*
[ ]
[ ]
unknown
A47 Lowest serum magnesium recorded during
hospital stay
concentration (µmol/L)
lower reference limit
[ ]
[ ]
unknown
A48 Rhabdomyolysis yes
no
unknown
� A48.1 (If yes) Highest creatine kinase (CK)
concentration recorded during
hospital stay
concentration
upper reference
limit
[ ]
[ ]
U/L
other unit;
[ ]
109
Compound question: only asked IF “Pre-menopausal”. If “Unkown” then only asked IF “Female” 110
Compound question: only asked IF “Yes” to alcohol use 111
Text box is expanded according to the input
Confidential Page 33 23/07/2012
MODULE 1
date of
measurement
[dd/mm/yyyy]
unknown
Severity
A49 Admission to Intensive Care Unit ( ICU)* yes
no
unknown
� A49.1 (If yes) Record number of days in unit
(*)
[ ] days unknown
� A49.2 Mechanical ventilation(*) yes
no
unknown
� � A49.2.1 (If Yes) Record number of
days on ventilation(*)
[ ] days unknown
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Confidential Page 34 23/07/2012
/Module 1 web page 4/
GENERAL ASSESSMENT, LIVER AND KIDNEY FUNCTION I FUNCTIONAL CAPACITY I LIFESTYLE AND
DRUGS
SYMPTOMS AND FINDINGS I NEUROLOGICAL ASSESSMENT I PROVOKING FACTORS , OTHER
COMPLICATIONS AND SEVERITY I TREATMENT I
MODULE 1 (CURRENT ACUTE PORPHYRIA SYMPTOMS)
Treatment
A50 Oral carbohydrate yes
no
unknown
A51 High carbohydrate loading (i.v. glucose) (*) yes
no
unknown
� A51.1 Route of administration (tick all that
apply)
peripheral venous line
central venous line
other [ ]
unknown
� A51.2 Duration of treatment [ ] days unknown
� A51.3 Concentration [ ] % unknown
� A51.4 Average quantity per day [ ] grams glucose/day unknown
� A51.5 Insulin added yes
no
unknown
A52 Administered haem arginate(*) yes
no
unknown
� A52.1 (If yes) Duration of symptoms
before administration(*)
[ ]
hours
days
unknown
� A52.2 Initial dose (day 1) (*) [ ] mg/day unknown
� A52.3 Additional doses 1(*) [ ] mg/day
(*)
[ ] total no. of
days given (*)
unknown
� A52.4 Preparation(*) saline
[ ] % albumin
unknown
� A52.5 Route of administration (tick all that
apply)
peripheral venous line
central venous line
other [ ]
unknown
A53 Other IV fluids (tick all that apply) glucose
saline solutions
volume expanders
blood-based products
blood substitutes
parenteral nutrition
unknown
other, specify [ ]112
112
Text box is expanded according to the input
Confidential Page 35 23/07/2012
MODULE 1 (CURRENT ACUTE PORPHYRIA SYMPTOMS)
Clinical status
A54 Is the patient under long term treatment for
repeated acute attacks (4 or more acute
attacks requiring hospitalisation per year) or
preventive treatment with or without acute
attacks? (*)113
yes114
no115
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113
N.B., This is the same data element as G30.1, and should be coded into the same variable. 114
Directed to Module 2 115
Directed to LAB section
Confidential Page 36 23/07/2012
/Module 2 web page 1/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I
LAB I FAMILY
GENERAL ASSESSMENT, LIVER AND KIDNEY FUNCTION I FUNCTIONAL CAPACITY I LIFESTYLE AND
DRUGS
CLINICAL HISTORY I CLINICAL ASSESSMENT I LONG TERM TREATMENT
MODULE 2
Clinical history
C1 (If yes to G30.1) Month and year of last
attack116
[mm/yyyy]
C2 (If yes to G30.1) Month and year of start of
repeated attacks117
[mm/yyyy] unknown
C3 (If yes to G30.1) Month and year of first
treatment with hemin arginate
[mm/yyyy] unknown
C4 (If yes to G30.1) Acute attacks in the last 12
months?
yes
no
unknown
� C4.1 (If yes) Record number [ ] unknown
C5 (If yes to G30.1) Outpatient treatment related
to acute attacks?
[ ] No. of attendances per year unknown
C6 (If yes to G30.1) Day case treatment [ ] No. of attendances per year unknown
C7 (If yes to G30.1) Inpatient treatment [ ] No. of admissions per year
[ ] Average length of stay
C8 (If yes to G30.1) Home care treatment/ self-
infusing
[ ] No. of attendances per year
C9 (If yes to G30.1.1) Month and year of last
attack requiring hospitalisation118
[mm/yyyy]
C10 (If yes to G30.1.1) Total number of acute
attacks during lifetime
[ ]
C11 (If yes to G30.1.1) Does the patient have
unspecific/chronic symptoms that may be
attributable to acute porphyria
yes, start [mm/yyyy]
no
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116
Administered consecutively, but details from the previous session are displayed and editable when relevant 117
Administered consecutively, but details from the previous session are displayed and editable 118
Administered consecutively, but details from the previous session are displayed and editable when relevant
Confidential Page 37 23/07/2012
/Module 2 web page 2/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT I
LAB I FAMILY
GENERAL ASSESSMENT, LIVER AND KIDNEY FUNCTION I FUNCTIONAL CAPACITY I LIFESTYLE AND
DRUGS
CLINICAL HISTORY I CLINICAL ASSESSMENT I LONG TERM TREATMENT
MODULE 2
Clinical assessment
C12 Mobility status walks unaided
walks with support
requires wheelchair
C13 Other paresis present yes, specify [ ]119
No
C14 Contractures yes
no
unknown
C15 Muscle pain yes
no
unknown
C16 Chronic mild abdominal pain yes
no
unknown
C17 Opiate dependence yes
no
unknown
C18 Peripheral neuropathy yes
no
unknown
� C18.1 (If yes) Pain yes
no
unknown
� C18.2 Paresthesias yes
no
unknown
C19 Chronic fatigue yes
no
unknown
C20 Anxiety yes
no
unknown
C21 Depressive symptoms yes
no
unknown
C22 Other symptom/ finding (1), specify [ ]120
C23 (If yes to G30.1) Are repeated acute attacks
related to the menstrual cycle?121
yes
no
unknown
Back Next
119
Text box is expanded according to the input 120
This list will be expanded one point at a time 121
Appears only if female and within the appropriate age range
Confidential Page 38 23/07/2012
MODULE 2
Delete and close Save I Save and close
Confidential Page 39 23/07/2012
/Module 2 - web page 3/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT
I LAB I FAMILY
GENERAL ASSESSMENT, LIVER AND KIDNEY FUNCTION I FUNCTIONAL CAPACITY I LIFESTYLE AND
DRUGS
CLINICAL HISTORY I CLINICAL ASSESSMENT I LONG TERM TREATMENT
MODULE 2
Long term treatments
C24 (If yes to G30.1) Is the patient under review for liver
transplantation?*
yes
no
unknown
� C24.1 (If yes) Comment [ ]122
C25 (If yes to G30.1.1) Liver transplant received* yes
no
unknown
� C25.1 (If yes) Record date of liver transplant(*) [dd/mm/yyyy] unknown
� C25.2 Combined liver and kidney transplant
performed? (*)
yes
no
� C25.3 Liver transplantation complications(*) yes
no
unknown
� � C25.4 (If yes) Record further details hepatic artery thrombosis
other, comment [ ]
unknown
� � C25.5 Further comments123 [
]124
C26 (If yes to G30.1) Administered haem arginate* yes
no
unknown
� C26.1 Frequency of administration* Regular treatment;
number
[ ] given per
At onset acute
attacks;
[ ] average no.
given per
week
month
year
month
year
Unknown
Unknown
� C26.2 Average dose* [ ] mg/day Unknown
� � C26.2.1 Preparation saline
[ ]% albumin
Unknown
� C26.3 Haem arginate therapy complications* yes unknown
122
Text box is expanded according to the input 123
Directed to “Laboratory Investigations” 124
Text box is expanded according to the input
Confidential Page 40 23/07/2012
MODULE 2 no
� � C26.3.1 Iron overload yes
no
unknown
� � � C26.3.1.1 Receiving
treatment for iron
overload
No treatment
Chelators
Phlebotomies
Other, specify
Deferoxamine
Deferasirox
Deferiprone
[ ]125
� � C26.3.2 Indwelling venous catheter yes
no
unknown
� � � C26.3.2.1 (If yes) Catheter
obstruction
yes
no
unknown
� � C26.3.3 Superficial venous thrombosis yes
no
unknown
� � C26.3.4 Deep venous thrombosis yes
no
unknown
C27 (If yes to G30.1) Administered GnRH (LHRH) agonist
treatment*
yes
no
unknown
Drug126
(Generic name)
Route of administration Started
(dd/mm/yyyy)
[prepopulated] 127 [prepopulated] [prepopulated] C27.1 If you have not previously entered GnRH agonist treatment, please describe below
GnRH (tick all that
apply) Average dose
(e.g. 0.9 mg)
Frequency
x 2)
Dose given by Route of
administration
Started
(dd/mm/yyyy)
buserelin
goserelin
other, specify
[ ]
[ mg x ] daily
weekly
monthly
3 monthly
other
nasal
subcutaneous
intramuscular
other
[dd/mm/yyyy]
� C27.2 GnRH related accelerated osteoporosis with
rapid bone loss present?
yes
no
unknown
� C27.3 Monitoring for loss of bone density yes
no
unknown
125
Text box is expanded according to the input 126
IF a LHRH drug has been entered previously, this section is pre-populated. 127
This is linked to G23 and prepopulated with any previously entered reference to LHRH, such as gonadorelin
hydrochloride(Factrel®) or gonadorelin diacetate tetrahydrate(Cystorelin®)
Confidential Page 41 23/07/2012
MODULE 2 � � C27.3.1 (If yes) How are you monitoring this
DEXA scan
Report on latest examination
normal
abnormal, comment
[ ]
Other procedure; specify
[ ]
Report on latest examination
normal
abnormal, comment
[ ]
unknown
� C27.4 Add back hormones given yes
no
unknown
C27.4.1 Add back hormone(s)
(tick all that apply)
Average daily dose
(e.g. 0.9 mg) Route of administration Started
(dd/mm/yyyy)
oestrogen
progesterone
other, specify
[ ]
[ ] mg/day
[ ] mg/day
[ ] mg/day
oral
topical
vaginal
other
[dd/mm/yyyy]
� � C27.4.2 Undertaking endometrial monitoring? yes
no
unknown
� � � C27.4.2.1 (If yes) Ultrasound yes, frequency [ ]
other procedure
[ ],frequency [ ]
unknown
Back Next - Laboratory Investigations
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Confidential Page 42 23/07/2012
/Lab page/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT
I LAB I FAMILY
LABORATORY INVESTIGATIONS MODULE – IF AVAILABLE (OPTIONAL SUPPLEMENTARY)
L1 Haemoglobin concentration (conc)
lower reference limit (LRL)
[ ]
[ ]
g/dl
g/L
mmol/L
Unknown
L2 Total WBC Conc
URL
[ ]
[ ]
x 10(9)/L
x 103/µL Unknown
L3 Platelets Conc
LRL
[ ]
[ ]
x 10(9)/L
x 103/µL Unknown
L4 Serum creatinine Conc
upper reference limit (URL)
[autofill]128
[autofill] 129
mmol/L Unknown
L5 Albumin creatinine
ratio
Conc
URL
[ ]
[autofill] 130
mg/mmol
creatinine Unknown
L6 Sodium Conc
LRL
[ ]
[autofill] 131
mmol/L
mg/dl Unknown
L7 Potassium Conc
LRL
[ ]
[ ]
mmol/L
mg/dl Unknown
L8 Calcium Conc
LRL
[ ]
[ ]
mmol/L
mg/dl Unknown
L9 Phosphate Conc
URL
[ ]
[ ]
mmol/L
mg/dl Unknown
L10 Magnesium Conc
LRL
[ ]
[ ]
mmol/L
mg/dl Unknown
L11 CK Conc
LRL
[autofill]132
[autofill]
U/L
mg/dl Unknown
L12 eGFR Conc [autofill]133
L13 ALT Conc
LRL
[ ]
[ ]
U/L
mg/dl Unknown
L14 CRP Conc
LRL
[ ]
[ ]
U/L
mg/L Unknown
Back Next - Family History
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128
This is pre-populated from same data element from general assessment section (G13) 129
This is pre-populated from same data element from general assessment section (G13) 130
This is pre-populated from same data element from general assessment section (G13) 131
This is pre-populated from same data element from general assessment section (A46) 132
This is pre-populated from same data element from general assessment section 133
This is pre-populated from same data element from general assessment section
Confidential Page 43 23/07/2012
/Family page/
HOMEPAGE I ENROLMENT I PERSONAL CHARACTERISTICS I DIAGNOSIS I ASSESSMENT
I LAB I FAMILY I
FAMILY HISTORY MODULE (OPTIONAL SUPPLEMENTARY) 134
F1 Family member135 mother
father
brother
sister
daughter
son
grandmother
grandfather
F2 Year of birth [yyyy] unknown
F3 Deceased Yes
No
unknown
� F3.1 Year of death [yyyy] unknown
� F3.2 Primary cause of death cardiovascular diseases
malignant neoplasms
respiratory diseases (e.g., chronic
obstructive pulmonary disease)
respiratory infections (e.g., lower
respiratory infections)
diseases of the digestive system (e.g.,
cirrhosis of the liver)
unintentional injuries (e.g., road
traffic accidents)
intentional injuries (e.g., self-inflicted
injuries)
other
unknown
� � F3.2.1 (If yes to malignant
neoplasms) Hepatocellular
cancer?*
Yes
No
Other primary liver cancer
unknown
� F3.3 Additional comments about cause of
death
[ ]
F4 <AIP>136 Yes
No
Suspected
unknown
� F4.1 (If yes or suspected) Attacks Yes
No
Suspected
unknown
134
Repeated for all family members: Mother, siblings, grandparents, children 135
Repeated until no additonal entries are included 136
Link to D1
Confidential Page 44 23/07/2012
FAMILY HISTORY MODULE (OPTIONAL SUPPLEMENTARY) 134 � F4.2 If known & available, enter their EPR
ID no.
[ ] unknown
Back Next – Homepage
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