Gene Therapy Treatment of Gene Therapy Treatment of Cystic Fibrosis and OTC: Are Cystic Fibrosis and OTC: Are the Risks Worth it?the Risks Worth it?

EPD 397 PresentationEPD 397 Presentation

Katie PorcaroKatie Porcaro

April 19, 2000April 19, 2000

Who does Gene Therapy Who does Gene Therapy Affect?Affect?

• Jesse GelsingerJesse Gelsinger– 18 years old18 years old– Research Study Research Study

participant with a participant with a history of OTC history of OTC deficiencydeficiency

– Died 4 days after Died 4 days after treatmenttreatment

OverviewOverview

• Explanation of Gene TherapyExplanation of Gene Therapy• Treatment of Cystic FibrosisTreatment of Cystic Fibrosis• Treatment of Orathine Treatment of Orathine

Transcarbamalyse DeficiencyTranscarbamalyse Deficiency• Discussion of Jesse GelsingerDiscussion of Jesse Gelsinger• The Future of Gene TherapyThe Future of Gene Therapy

How Does Gene Therapy How Does Gene Therapy Work?Work?

http://www.thirteen.org/archive/innovation/show1/html/animation2.html

Original contents

Therapeutic Gene

How Does Gene Therapy How Does Gene Therapy Work?Work?

http://www.thirteen.org/archive/innovation/show1/html/animation2.html

How Does Gene Therapy How Does Gene Therapy Work?Work?

http://www.thirteen.org/archive/innovation/show1/html/animation2.html

How Does Gene Therapy How Does Gene Therapy Work?Work?

http://www.thirteen.org/archive/innovation/show1/html/animation2.html

How Does Gene Therapy How Does Gene Therapy Work?Work?

http://www.thirteen.org/archive/innovation/show1/html/animation2.html

How Does Gene Therapy How Does Gene Therapy Work?Work?

http://www.thirteen.org/archive/innovation/show1/html/animation2.html

How Does Gene Therapy How Does Gene Therapy Work?Work?

http://www.thirteen.org/archive/innovation/show1/html/animation2.html

What is Cystic Fibrosis?What is Cystic Fibrosis?

• Inherited disease Inherited disease affecting 1 in 2000 affecting 1 in 2000 Caucasian births Caucasian births [Berkow, 1982][Berkow, 1982]

• Symptoms include Symptoms include chronic respiratory chronic respiratory infections and other infections and other health problemshealth problems

What is What is Orathine Transcarbamalyse Orathine Transcarbamalyse Deficiency?Deficiency?

• Liver lacks enzymes needed to rid Liver lacks enzymes needed to rid the body of ammoniathe body of ammonia– Affects mostly malesAffects mostly males– Ammonia build-up can lead to coma Ammonia build-up can lead to coma

and deathand death– Some cases can be controlled with a Some cases can be controlled with a

low protein diet and medicineslow protein diet and medicines

Side Effects of Gene Therapy Side Effects of Gene Therapy TreatmentTreatment

• Flu-like symptomsFlu-like symptoms– FeverFever– Aches and PainsAches and Pains

[Seroogy,2000][Seroogy,2000]

• More Serious ProblemsMore Serious Problems– Inflammation of the liverInflammation of the liver– Liver ToxicityLiver Toxicity[Stolberg, 1999][Stolberg, 1999]

What Happened to Jesse What Happened to Jesse Gelsinger?Gelsinger?

• Inflammation of the liverInflammation of the liver• Build-up of ammoniaBuild-up of ammonia• Inability to clot bloodInability to clot blood• Respiratory problemsRespiratory problems• Brain and Kidney failureBrain and Kidney failure

[Stolberg, 1999][Stolberg, 1999]

• There were no warning signsThere were no warning signs

The Future of Gene The Future of Gene TherapyTherapy

• Ongoing Trials involving human Ongoing Trials involving human subjectssubjects

• First successes seen in early 2000First successes seen in early 2000• New standards being developedNew standards being developed• Strong potential for the futureStrong potential for the future

ReferencesReferences

Questions?