Informations générales (source: ClinicalTrials.gov)
Study of CNGB1 Retinitis Pigmentosa and Allied Hereditary Disorders
Observational
Columbia University (Voir sur ClinicalTrials)
mars 2019
février 2026
30 avril 2025
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.
Etablissements
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| CHNO DES QUINZE-VINGTS PARIS | Isabelle Audo, MD, PhD | Contact (sur clinicalTrials) | |||
Critères
Tous
Inclusion Criteria:
- Diagnosis of CNGB1-associated RP by study physician, who are trained retinal
specialists in the university clinic
- Must be able to commit to 4 follow-up study visits (3 years)
- Diagnosis of CNGB1-associated RP by study physician, who are trained retinal
specialists in the university clinic
- Must be able to commit to 4 follow-up study visits (3 years)