9 completed, 3 recruiting, 2 active not recruiting, 2 terminated. 5 Phase 2, 1 Early Phase 1, 1 Not applicable, 1 Phase 1.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 5 | Terminated 2, Completed 1, Unknown 1, Withdrawn 1 |
| Early Phase 1 | 1 | Recruiting 1 |
| Not applicable | 1 | Completed 1 |
| Phase 1 | 1 | Terminated 1 |
Follow Albinism, Oculocutaneous: new trials by email Literature Review of Albinism, Oculocutaneous trials Research Report on Albinism, Oculocutaneous
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 |
|---|---|---|---|---|---|---|
| Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1) JWK010 gene therapy - Oculocutaneous Albinism (OCA) | Early Phase 1 | Recruiting | West China Hospital | 18 | 2025-12-22 | 2026-01-12 |
| Peripheral Serotonin and Albinism Dosage of serotonin and metabolites, Blood parameters - Oculocutaneous Albinism | Recruiting | Assistance Publique - Hôpitaux de Paris | 160 | 2024-02-06 | 2025-09-12 | |
| 23andMe IPF Research Study No intervention - Idiopathic Pulmonary Fibrosis | Completed | 23andMe, Inc. | 690 | 2020-06-05 | 2024-12-09 | |
| Efficacy and Safety of Pirfenidone Treatment in HPS-ILD Pirfenidone - Hermansky Pudlak Syndrome, Interstitial Lung Disease | Phase 2 | Unknown | Jesse Roman | 50 | 2019-12-01 | 2019-12-10 |
| 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 | |
| A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Pulmonary function test, Chest CT, Sample collection - Hermansky Pudlak Syndrome | Completed | Vanderbilt University | 55 | 2015-03-01 | 2020-06-24 | |
| The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism Lutein plus Zeaxanthin, Placebo - Ocular Albinism (OA), Oculocutaneous Albinism (OCA) | Not applicable | Completed | Johns Hopkins University | 10 | 2014-11-01 | 2018-12-28 |
| Vision Response to Dopamine Replacement Levodopa/carbidopa - Albinism, Oculocutaneous Albinism | Phase 2 | Terminated | University of Wisconsin, Madison | 20 | 2012-10-17 | 2019-06-11 |
| Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Myelofibrosis, Gaucher Disease | Completed | National Human Genome Research Institute (NHGRI) | 88 | 2011-08-01 | 2019-07-26 | |
| New Strategies of Genetic Study of Patients With Oculocutaneous Albinism Genetic analyzes - Oculocutaneous Albinism, Mutation | Completed | University Hospital, Bordeaux | 64 | 2010-09-15 | 2026-06-18 | |
| Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Oculocutaneous Albinism | Completed | National Human Genome Research Institute (NHGRI) | 206 | 2008-12-11 | 2020-01-06 | |
| Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Mesalamine, Infliximab, Corticosteroids - Hermanski-Pudlak Syndrome, Colitis | Phase 2 | Withdrawn | National Institute of Allergy and Infectious Diseases (NIAID) | 2007-08-07 | 2017-07-02 | |
| Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Losartan, Zileuton, N-Acetylcysteine - Hermansky-Pudlak Syndrome (HPS), Pulmonary Fibrosis | Phase 1 / Phase 2 | Terminated | National Human Genome Research Institute (NHGRI) | 3 | 2007-04-01 | 2013-08-02 |
| Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Pirfenidone, Placebo - Albinism, Inborn Errors of Metabolism | Phase 2 | Completed | William Gahl, M.D. | 35 | 2005-09-01 | 2017-10-16 |
| Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Blood Coagulation Disorders | Completed | National Human Genome Research Institute (NHGRI) | 3 | 2004-06-29 | 2017-07-02 | |
| Analysis of Specimens From Individuals With Pulmonary Fibrosis Pulmonary Fibrosis, Healthy Volunteers | Active not recruiting | National Human Genome Research Institute (NHGRI) | 315 | 2004-06-09 | 2026-10-21 | |
| Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Hermansky-Pudlak Syndrome (HPS) | Recruiting | National Human Genome Research Institute (NHGRI) | 600 | 1995-11-06 | 2026-10-13 | |
| Visual Function and Ocular Pigmentation in Albinism Albinism, Albinism, Ocular | Completed | National Eye Institute (NEI) | 130 | 1976-06-01 | 2008-03-04 |
Hermanski-Pudlak Syndrome (11) · Pulmonary Fibrosis (6) · Albinism (5) · Platelet Storage Pool Deficiency (4) · Albinism, Ocular (2) · Lung Diseases (2) · Metabolic Diseases (2) · 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (1) · 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (1) · 3-methylcrotonyl CoA carboxylase 1 deficiency (1) · 3-methylcrotonyl CoA carboxylase 2 deficiency (1) · Acidemia, isovaleric (1) · Acrodermatitis enteropathica (1) · Adenine phosphoribosyltransferase deficiency (1)
Amino Acid Metabolism, Inborn Errors (18) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (18) · Eye Diseases (18) · Eye Diseases, Hereditary (18) · Genetic Diseases, Inborn (18) · Hypopigmentation (18) · Nutritional and Metabolic Diseases (18) · Pigmentation Disorders (18) · Skin Diseases (18) · Skin Diseases, Genetic (18) · Skin and Connective Tissue Diseases (18) · Metabolism, Inborn Errors (17) · Metabolic Diseases (16) · Albinism (13) · Hematologic Diseases (12)
pirfenidone (2) · Acetylcysteine (1) · Adalimumab (1) · Adrenal Cortex Hormones (1) · Erythromycin (1) · Infliximab (1) · Losartan (1) · Lutein (1) · Mercaptopurine (1) · Mesalamine (1) · Pravastatin (1) · Respiratory Physiological Phenomena (1) · Specimen Handling (1) · Tacrolimus (1) · Zeaxanthins (1)
National Human Genome Research Institute (NHGRI) (6) · 23andMe, Inc. (1) · Assistance Publique - Hôpitaux de Paris (1) · Jesse Roman (1) · Johns Hopkins University (1) · National Eye Institute (NEI) (1) · National Institute of Allergy and Infectious Diseases (NIAID) (1) · RTI International (1) · University Hospital, Bordeaux (1) · University of Wisconsin, Madison (1) · Vanderbilt University (1) · West China Hospital (1) · William Gahl, M.D. (1)
United States (15) · China (1) · France (1) · Puerto Rico (1)
Wendy J Introne, M.D. (2) · Curt Scharfe, MD, PhD (1) · David R Adams, M.D. (1) · Fang Lu (1) · Jesse Roman, MD (1) · Kevin J O'Brien, C.R.N.P. (1) · Lisa R. Young, MD (1) · Mary E. Frey (1) · Michael C Struck, MD (1) · Neil Bressler, MD (1) · Suyash Shringarpure (1) · Thomas Markello, M.D. (1)
PMID 29445374, PMID 30369044, PMID 20966063, PMID 31315600, PMID 35142618
U54HL127672 (1)