Clinical trial NCT04639635: CNGB1 and Allied Disorders
Official title: Study of CNGB1 Retinitis Pigmentosa and Allied Hereditary Disorders
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Retinitis Pigmentosa Associated With CNGB1 Mutations
Keywords: Retinitis Pigmentosa
CNGB1
Natural Progression
Lead sponsor: Columbia University
Sponsor class: OTHER
Collaborators: name: Michigan State University
name: Moorfields Eye Hospital NHS Foundation Trust
name: Universität Tübingen
name: Wills Eye
name: La Fondation Voir et Entendre
name: Ludwig-Maximilians - University of Munich
First posted: 2020-11-20
Enrollment: 20
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients are expected to present to the clinic at all age groups; enrollment of subjects \<18 years of age will be obtained by informed consent in the company of a parent or legal guardian. There will also be no gender-or ethnic/racial specific inclusion criteria. The enrollment of non-English speaking subjects is not expected.

Brief summary: 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.


Eligibility criteria: 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)

Primary outcomes:
measure: We will be looking to identify what the best outcome measurements will be for CNGB1-RP in order to use these measurements in a future clinical trial.
timeFrame: 2 days, 1 time per year, for 3 years
measure: Medmont Dark Adapted Chromatic (DAC) Automated Perimeter
timeFrame: 1 time per year, for 3 years
measure: Full-field ERG (ISCEV Protocol)
timeFrame: 1 time per year, for 3 years
measure: Optical Coherence Tomography (OCT)
timeFrame: 1 time per year, for 3 years
measure: Fundus Autofluorescence (FAF)
timeFrame: 1 time per year, for 3 years
measure: Near-infrared fundus autofluorescence (NIR-AF)
timeFrame: 1 time per year, for 3 years
measure: Quantitative Fundus Autofluorescence (qAF)
timeFrame: 1 time per year, for 3 years
Secondary outcomes:
measure: Best-corrected Visual Acuity (BCVA)
timeFrame: 1 time per year, for 3 years
measure: Complete Ophthalmic Exam
timeFrame: 2 time per year, for 3 years
measure: Color Fundus Photos
timeFrame: 1 time per year, for 3 years
measure: MAIA Microperimetry
timeFrame: 1 time per year, for 3 years
measure: NIDEK Microperimetry
timeFrame: 1 time per year, for 3 years
measure: Goldman Kinetic Visual Field
timeFrame: 1 time per year, for 3 years
measure: Light-adapted Static Perimetry
timeFrame: 1 time per year, for 3 years
measure: Panel D-15 Colour Vision (desat.)
timeFrame: 1 time per year, for 3 years
measure: Dark-adapted Chromatic Perimetry
timeFrame: 1 time per year, for 3 years
measure: Full-field Stimulus Testing (FST)
timeFrame: 1 time per year, for 3 years
Other outcomes:
measure: Demographics/medical history
timeFrame: 1 time only at baseline
measure: Concomitant medications/adverse events
timeFrame: 1 time only at baseline
Locations:
city: New York
country: United States
facility: Dr. Stephen H. Tsang
state: New York
city: Philadelphia
country: United States
facility: Wills Eye Hospital
state: Pennsylvania
city: Paris
country: France
facility: Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts
city: München
country: Germany
facility: Klinikum der Universität München University Eye Hospital, Ludwig-Maximilians-University (LMU) Munich
state: Bavaria
city: Tuebingen
country: Germany
facility: Eberhard Karls University Tubingen
city: London
country: United Kingdom
facility: Moorfields Eye Hospital NHS Foundation Trust
Study officials:
affiliation: Columbia University
name: Stephen Tsang, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: