Dr. Isabelle Audo, MD, PhD

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CHNO XV-XX Paris - CIC 1423

Studies Retinitis Pigmentosa
Studies None
6 reported clinical trials
7 drugs studied

Area of expertise

1

Retinitis Pigmentosa

Isabelle Audo, MD, PhD has run 6 trials for Retinitis Pigmentosa. Some of their research focus areas include:

PR positive
RHO positive
PDE6A positive
2

None

Isabelle Audo, MD, PhD has run 2 trials for None. Some of their research focus areas include:

RHO positive
PDE6A positive
PDE6B positive

Clinical Trials Isabelle Audo, MD, PhD is currently running

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Natural History Study

for Best Disease

The purpose of this study is to establish the natural history of of participants with BESTROPHIN 1 Vitelliform Macular Dystrophy. The blinding disorder Best Vitelliform Macular Dystrophy (VMD) is caused by any one of more than 250 different mutations in the BEST1 gene. As new treatments are developed, a clear understanding of the natural history of disease progression of BEST1 VMD is necessary. The goals of this natural history study are to: 1. Report the natural history of retinal degeneration in participants with a clinical diagnosis of VMD with molecular confirmation of a pathogenic BEST1 mutation(s). 2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials for the treatment of BESTROPHIN 1 VMD. 3. Compare progression of the identified structural and functional measures between the two eyes to judge the suitability of the second untreated eye as a control for a future clinical trial involving unilateral treatment 4. Identify well-defined patient populations for future clinical trials of investigative treatments for BEST1 VMD.

Recruiting

1 award

N/A

2 criteria

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Gene Therapy

for Retinitis Pigmentosa

Mutations in the rod-expressed gene, cyclic nucleotide-gated channel beta subunit (CNGB1) and associated inborn errors in metabolism are causes of retinal disease that causes progressive loss of vision. Retinitis pigmentosa (RP) is a major cause of untreatable blindness associated with CNGB1 (CNGB1-RP). RP involves the death of photoreceptor cells that can be caused by mutations in a number of different genes. Treatment by gene therapy could prevent blindness in cases of inherited retinal dystrophies including RP. In the future RP due to mutations in CNGB1 may be treatable by gene therapy since this form of photoreceptor degeneration involves a slow loss of rod photoreceptor cells. This provides a wide window of opportunity for the identification of patients and initiation of treatment. Our efforts are directed toward developing gene therapy as a treatment. To this end, our objective is to better understand the disease process of CNGB1-RP and other allied inherited disorders so that we can develop clinical tests to measure the outcomes of treatment.

Recruiting

1 award

N/A

2 criteria

More about Isabelle Audo, MD, PhD

Clinical Trial Related

4 years of experience running clinical trials · Led 6 trials as a Principal Investigator · 3 Active Clinical Trials

Treatments Isabelle Audo, MD, PhD has experience with

  • AAV5-RPGR
  • Mobility Test
  • Ophthalmic Examination
  • Ophthalmic Examinations
  • CNGB1 Gene Therapy
  • SPVN06

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