CNGB1 and Allied Disorders

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-03-14

Study Completion Date

2026-02-28

Brief Summary

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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.

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Detailed Description

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Conditions

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Retinitis Pigmentosa Associated With CNGB1 Mutations

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Interventions

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No intervention, this is a natural history progression study

The objective is to better understand the disease process of CNGB1-RP so that we can develop clinical tests to measure the outcomes of treatment.

Intervention Type OTHER

Eligibility Criteria

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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)

Eligible Sex

ALL

Accepts Healthy Volunteers

No