Ignite Creation Date:
2025-12-24 @ 10:30 PM
Ignite Modification Date:
2026-01-04 @ 8:51 PM
Study NCT ID:
NCT04639635
Status:
RECRUITING
Last Update Posted:
2025-12-03
First Post:
2020-08-07
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
CNGB1 and Allied Disorders
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D012174', 'term': 'Retinitis Pigmentosa'}], 'ancestors': [{'id': 'D015785', 'term': 'Eye Diseases, Hereditary'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D058499', 'term': 'Retinal Dystrophies'}, {'id': 'D012162', 'term': 'Retinal Degeneration'}, {'id': 'D012164', 'term': 'Retinal Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 20}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2019-03-14', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-12', 'completionDateStruct': {'date': '2026-02', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-12-02', 'studyFirstSubmitDate': '2020-08-07', 'studyFirstSubmitQcDate': '2020-11-16', 'lastUpdatePostDateStruct': {'date': '2025-12-03', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2020-11-20', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-02', 'type': 'ESTIMATED'}}, 'outcomesModule': {'otherOutcomes': [{'measure': 'Demographics/medical history', 'timeFrame': '1 time only at baseline'}, {'measure': 'Concomitant medications/adverse events', 'timeFrame': '1 time only at baseline'}], 'primaryOutcomes': [{'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', 'description': 'Both structural imaging and functional tests will be used to characterize the natural history progression of CNGB1-RP.'}, {'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'}], 'secondaryOutcomes': [{'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', 'description': 'if available'}, {'measure': 'NIDEK Microperimetry', 'timeFrame': '1 time per year, for 3 years', 'description': 'if available'}, {'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', 'description': 'Optional'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Retinitis Pigmentosa', 'CNGB1', 'Natural Progression'], 'conditions': ['Retinitis Pigmentosa Associated With CNGB1 Mutations']}, 'descriptionModule': {'briefSummary': '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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '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.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Diagnosis of CNGB1-associated RP by study physician, who are trained retinal specialists in the university clinic\n* Must be able to commit to 4 follow-up study visits (3 years)'}, 'identificationModule': {'nctId': 'NCT04639635', 'briefTitle': 'CNGB1 and Allied Disorders', 'organization': {'class': 'OTHER', 'fullName': 'Columbia University'}, 'officialTitle': 'Study of CNGB1 Retinitis Pigmentosa and Allied Hereditary Disorders', 'orgStudyIdInfo': {'id': 'AAAS1160'}}, 'armsInterventionsModule': {'interventions': [{'name': 'No intervention, this is a natural history progression study', 'type': 'OTHER', 'description': '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.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '10032', 'city': 'New York', 'state': 'New York', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Stephen H Tsang, MD, PhD', 'role': 'CONTACT', 'email': 'sht2@columbia.edu', 'phone': '212-342-1186'}], 'facility': 'Dr. Stephen H. Tsang', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'zip': '19107', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Rebecca Procopio, CGC', 'role': 'CONTACT', 'email': 'rprocopio@willseye.org', 'phone': '267-733-9681'}, {'name': 'Tobin BT Thuma, DO', 'role': 'CONTACT', 'email': 'tthuma@willseye.org', 'phone': '215-928-3240'}], 'facility': 'Wills Eye Hospital', 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Isabelle Audo, MD, PhD', 'role': 'CONTACT', 'email': 'isabelle.audo@inserm.fr', 'phone': '+33 1 40 02 14 30'}, {'name': 'Camille Andrieu, MD', 'role': 'CONTACT', 'email': 'candrieu@15-20.fr', 'phone': '+33 1 40 02 14 51'}, {'name': 'Isabelle Audo, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '80336', 'city': 'München', 'state': 'Bavaria', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Claudia Priglinger, PD Dr.', 'role': 'CONTACT', 'email': 'claudia.priglinger@med.uni-muenchen.de', 'phone': '+49 (0)89 4400 53717'}, {'name': 'Stefan May', 'role': 'CONTACT', 'email': 'Stefan.May@med.uni-muenchen.de', 'phone': '+49 (0)89 4400-53146'}, {'name': 'Maximilian Gerhardt, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Stylianos Michalakis, PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Klinikum der Universität München University Eye Hospital, Ludwig-Maximilians-University (LMU) Munich', 'geoPoint': {'lat': 48.69668, 'lon': 13.46314}}, {'city': 'Tübingen', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Laura Kuehlewein, MD', 'role': 'CONTACT', 'email': 'laura.kuehlewein@med.uni-tuebingen.de', 'phone': '+49 07071 29-88088'}, {'name': 'Katarina Stingl, MD', 'role': 'CONTACT', 'email': 'katarina.stingl@med.uni-tuebingen.de', 'phone': '+49 7071 29 87421'}, {'name': 'Eberhart Zrenner, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Eberhard Karls University Tubingen', 'geoPoint': {'lat': 48.52266, 'lon': 9.05222}}, {'city': 'London', 'status': 'NOT_YET_RECRUITING', 'country': 'United Kingdom', 'contacts': [{'name': 'Simona D Esposti, MD', 'role': 'CONTACT', 'email': 's.esposti@nhs.net', 'phone': '(+44) 207 566 2263'}, {'name': 'Omar Mahroo, PhD', 'role': 'CONTACT', 'email': 'o.mahroo@ucl.ac.uk', 'phone': '(+44) 207 566 2263'}, {'name': 'Simona D Esposti, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Moorfields Eye Hospital NHS Foundation Trust', 'geoPoint': {'lat': 51.50853, 'lon': -0.12574}}], 'centralContacts': [{'name': 'Stephen Tsang', 'role': 'CONTACT', 'email': 'sht2@cumc.columbia.edu', 'phone': '212-342-1189'}], 'overallOfficials': [{'name': 'Stephen Tsang, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Columbia University'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Columbia University', 'class': 'OTHER'}, 'collaborators': [{'name': 'Michigan State University', 'class': 'OTHER'}, {'name': 'Moorfields Eye Hospital NHS Foundation Trust', 'class': 'OTHER'}, {'name': 'Universität Tübingen', 'class': 'OTHER'}, {'name': 'Wills Eye', 'class': 'OTHER'}, {'name': 'La Fondation Voir et Entendre', 'class': 'UNKNOWN'}, {'name': 'Ludwig-Maximilians - University of Munich', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}