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Bardet Biedl Syndrome Family Association

Connecting families and sharing information on research, treatment, and therapies for Bardet Biedl Syndrome.

Dr. Eric Pierce Presents on Retinal Degeneration Therapies

Highlights from Dr. Pierce’s Presentation:

1) There are three different therapeutic approaches: Neurotrophic Function Therapies (NFTs), Gene Therapy and Stem Cell Therapy

2) NFTs include things like Vitamin A and TUDCA. They introduce elements necessary for the healthy functioning of neurons at the back of the retina. The challenge is that they are also potentially toxic in the wrong doses. TUDCA has been positive results in mice models of BBS4. But need to determine proper dosage that is both effective and safe. The good thing is that TUDCA is already approved for treatment of a liver disease, so the possibility to move to use for BBS is quite good.

3) Gene Therapies introduce a good copy of a defective gene into the retina. They can help restore photoreceptors that have stopped working but aren’t dead. Thus there is some possibility of improving vision but not for restoring vision that is lost due to complete degradation. Gene therapies are in human trials for a variety of retinal diseases and there have been very good results. There is a current trial of a gene therapy for several BBS genes in animal models.

4) Stem Cell Therapies grow new photoreceptor cells and entirely replace completely damaged or dead photoreceptors.

5) NFTs are in human testing today and there is a strong chance we will have approved NFTs in the next 5 years.

6) Gene therapies are probably 5 - 10 years away.

7) Stem Cell therapies are at least 20 years away but some promising advances are being made.