1. Ornithine transcarbamylase deficiency (OTC)
Jesse Gelsinger
and
Ornithine transcarbamylase deficiency (OTC)
Divya Trehan
Kathryn Clark
Shalini Kochicheril
Tanya Tyler

2. OTC Affects 1 in 25,000 births Mutation on X chromosome
Person is born with a liver unable to eliminate ammonia made after metabolism
Regulated by special diet and medication
Gene therapy in progress
Jesse Gelsinger died Sept from a clinical trial

3. What Went Wrong?
Penn researchers developed an adenovirus vector which was developed for the transfer of good OTC genes which was more toxic than other vectors used in gene transfer.
How a vector is inserted:
When tested on animals (mouse, monkey, baboons) and one human patient, flu-like side effects along with mild inflammation which disappeared on its own.

4. Findings Risks of toxic effects of adenovirus particles were mitigated
Was not informed that monkeys injected with virus died
Didn’t tell how previous humans tested suffered serious adverse side effects
The institute didn’t properly track the health of volunteers after the experiment began. Lost track of several lots of experimental genes that had been infused into patients livers

5. How he was misled
Jesse’s father testified to FDA that Penn researchers informed him that previous study volunteers had experienced a 50% improvement in liver function. In fact, no such study was documented.

6. Jesse’s Story It was an ongoing 2 year trial
Began on his 18th birthday
His liver was infused with trillions of genetically disabled cold viruses containing the corrected OTC genes.
This virus caused an immune system revolt which caused his immune system to attack his lungs and vital organs. He died four days later.