2 completed, 2 recruiting, 1 active not recruiting, 1 withdrawn. 1 Not applicable, 1 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 1 | Recruiting 1 |
| Phase 2 | 1 | Withdrawn 1 |
Follow Stickler syndrome, type 1: new trials by email Literature Review of Stickler syndrome, type 1 trials Research Report on Stickler syndrome, type 1
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Retinal Detachment Prevention (Laser Prophylaxis) in Stickler Syndrome (SS) Prophylactic (non-invasive) Laser Retinopexy - Stickler Syndrome Type 1, Stickler Syndrome Type 2 | Not applicable | Recruiting | Helen Keller Eye Research Foundation | 500 | 2025-10-30 | 2026-10-23 |
| Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome Encircling scleral buckle surgical procedure - Stickler Syndrome | Phase 2 | Withdrawn | Assistance Publique - Hôpitaux de Paris | 2023-06-01 | 2026-05-06 | |
| Early Check: Expanded Screening in Newborns Confirmatory Testing - Spinal Muscular Atrophy, Fragile X Syndrome | Active not recruiting | RTI International | 30000 | 2018-10-15 | 2026-07-01 | |
| Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Rare Disorders, Undiagnosed Disorders | Recruiting | Sanford Health | 20000 | 2010-07-01 | 2026-10-28 | |
| Studies of Heritable Disorders of Connective Tissue Ehlers-Danlos Syndrome, Stickler Syndrome | Completed | National Institute on Aging (NIA) | 929 | 2003-01-21 | 2018-04-05 | |
| Study of Heritable Connective Tissue Disorders Connective Tissue Disease, Dissecting Aneurysm | Completed | National Human Genome Research Institute (NHGRI) | 900 | 1997-03-01 | 2008-03-04 |
Stickler syndrome, type 2 (3) · Ataxia with vitamin E deficiency (2) · Cystinosis (2) · Ehlers-Danlos Syndrome (2) · Hyperargininemia (2) · Hypophosphatasia (2) · Leukodystrophy, Metachromatic (2) · Marfan Syndrome (2) · Multiple Endocrine Neoplasia Type 2b (2) · Pitt-Hopkins syndrome (2) · Retinal Detachment (2) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (1) · 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (1) · 3-Methylglutaconic Aciduria, Type V (1)
Abnormalities, Multiple (4) · Bone Diseases (4) · Bone Diseases, Developmental (4) · Cardiovascular Abnormalities (4) · Cardiovascular Diseases (4) · Congenital Abnormalities (4) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (4) · Eye Diseases (4) · Genetic Diseases, Inborn (4) · Heart Defects, Congenital (4) · Heart Diseases (4) · Hematologic Diseases (4) · Hemic and Lymphatic Diseases (4) · Musculoskeletal Diseases (4) · Retinal Diseases (4)
Assistance Publique - Hôpitaux de Paris (1) · Helen Keller Eye Research Foundation (1) · National Human Genome Research Institute (NHGRI) (1) · National Institute on Aging (NIA) (1) · RTI International (1) · Sanford Health (1)
United States (5) · France (1)
Curt Scharfe, MD, PhD (1) · Nazli B McDonnell, M.D. (1) · Peter J Belin, MD (1) · Robert E Morris, MD (1)