Clinical trials: Albinism, Oculocutaneous
Albinism, Albinism, Ocular
Visual Function and Ocular Pigmentation in Albinism
To study the relationship between visual function and ocular (iris, retina/choroidal) pigmentation in patients with albinism and other hypomelanotic disorders.
- Conditions
- Albinism, Albinism, Ocular, Albinism, Oculocutaneous
- Trial name
- NCT00001153
- Where
- United States
- Volunteers
- 130 people
- Sponsor
- National Eye Institute (NEI)
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Oculocutaneous Albinism (OCA)
Safety and Efficacy of a Single Suprachoroidal Injection of JWK010 Gene Therapy in Subjects With Oculocutaneous Albinism Type 1 (OCA1)
Oculocutaneous albinism (OCA) is the most common type of albinism. People with OCA have little or no pigment (melanin) in their eyes, skin, and hair.
- Trial name
- NCT07313618
- Testing
- JWK010 gene therapy
- Where
- China
- Volunteers
- 18 people
- Sponsor
- West China Hospital
Hermansky-Pudlak Syndrome (HPS), Pulmonary Fibrosis
Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome
This study will examine whether five drugs (pravastatin, Losartan, Zileuton, N-acetylcysteine and erythromycin) used together can slow the course of pulmonary fibrosis (scarring of the lung tissue) in patients with…
- Conditions
- Hermansky-Pudlak Syndrome (HPS), Pulmonary Fibrosis, Oculocutaneous Albinism, Platelet Storage Pool Deficiency
- Trial name
- NCT00467831
- Testing
- Losartan, Zileuton, N-Acetylcysteine
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Oculocutaneous Albinism, Mutation
New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified.
- Trial name
- GENALB (NCT04068961)
- Testing
- Genetic analyzes
- Volunteers
- 64 people
- Sponsor
- University Hospital, Bordeaux
Albinism, Inborn Errors of Metabolism
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome (HPS) is an inherited disease that results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal…
- Conditions
- Albinism, Inborn Errors of Metabolism, Oculocutaneous Albinism, Platelet Storage Pool Deficiency
- Trial name
- NCT00001596
- Testing
- Pirfenidone
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- William Gahl, M.D.
Oculocutaneous Albinism
Peripheral Serotonin and Albinism
Serotonin (5-HT or 5-hydroxytryptamine) is a monoamine primarily known for its role as a neurotransmitter in the central nervous system (CNS).
- Trial name
- SEPIAs (NCT06138509)
- Testing
- Dosage of serotonin and metabolites, Blood parameters
- Where
- France
- Volunteers
- 160 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Adverse Childhood Experiences
ACEs Referral From PED
Adverse childhood experiences (ACEs) are traumatic exposures that can cause many negative health impacts across life. ACEs are common in patients who seek out care in pediatric emergency departments (PEDs); this is an opportunity…
- Trial name
- NCT06574633
- Testing
- In-person therapy, Telehealth therapy
- Where
- 4 sites in United States
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Emory University
Hermansky Pudlak Syndrome, Interstitial Lung Disease
Efficacy and Safety of Pirfenidone Treatment in HPS-ILD
This research study will explore the safety and efficacy of the drug, pirfenidone, in patients with a diagnosis of Hermansky-Pudlak Syndrome (HPS) who have an associated interstitial lung disease (ILD) over a planned period of 56…
- Trial name
- PEARL (NCT04193592)
- Testing
- Pirfenidone
- Where
- 2 sites in United States, Puerto Rico
- Volunteers
- 50 people
- Sponsor
- Jesse Roman
Blood Coagulation Disorders
Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles
Congenital bleeding disorders characterized by abnormal platelet granules include Gray Platelet syndrome (GPS; defective alpha-granules), Hermansky-Pudlak syndrome (HPS; defective delta-granules), and combined alpha delta-storage…
- Trial name
- NCT00086476
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Pulmonary Fibrosis, Healthy Volunteers
Analysis of Specimens From Individuals With Pulmonary Fibrosis
The etiology of pulmonary fibrosis is unknown. Analyses of blood, genomic DNA, and specimens procured by bronchoscopy, lung biopsy, lung transplantation, clinically-indicated extra-pulmonary biopsies, or post-mortem examination…
- Conditions
- Pulmonary Fibrosis, Healthy Volunteers, Hermansky-Pudlak Syndrome (HPS)
- Trial name
- NCT00084305
- Where
- United States
- Volunteers
- 315 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Ocular Albinism (OA), Oculocutaneous Albinism (OCA)
The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism
The LUVIA study is a randomized placebo-controlled trial designed to investigate the effects of lutein and zeaxanthin supplementation on macular pigment and visual function in ocular or oculocutaneous albinism.
- Trial name
- LUVIA (NCT02200263)
- Testing
- Lutein plus Zeaxanthin
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
Albinism, Vision Loss
Nitisinone for Type 1B Oculocutaneous Albinism
Background: Oculocutaneous albinism, type 1B (OCA1B) is a genetic disease caused by problems in the gene that makes tyrosine. Tyrosine is an amino acid needed to produce pigment in the skin, hair, and eyes.
- Trial name
- NCT01838655
- Testing
- Nitisinone
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Eye Institute (NEI)
Idiopathic Pulmonary Fibrosis
23andMe IPF Research Study
The long term goal of this study is to increase genetic understanding of IPF to enable the development of an effective drug for IPF that can improve the lives of those living with the condition.
- Trial name
- IPF (NCT05028894)
- Testing
- No intervention
- Where
- United States
- Volunteers
- 690 people
- Sponsor
- 23andMe, Inc.
Oculocutaneous Albinism
Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
Oculocutaneous albinism (OCA) is a term used to describe inherited forms of hypopigmentation associated with 1) variable levels of cutaneous hypopigmentation, ocular hypopigmentation, and visual deficits, and 2) involvement of…
- Trial name
- NCT00808106
- Where
- United States
- Volunteers
- 206 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hermansky-Pudlak Syndrome (HPS)
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal…
- Trial name
- NCT00001456
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Albinism, Oculocutaneous Albinism
Vision Response to Dopamine Replacement
The purpose of the study is to evaluate and document physiologic and functional changes in visual performance and retinal function of patients diagnosed with albinism (a dopamine deficiency state) following a trial of oral…
- Trial name
- NCT01663935
- Testing
- Levodopa/carbidopa
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Wisconsin, Madison
Hermanski-Pudlak Syndrome, Colitis
Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome
This study will determine if medical treatment of colitis (inflammation of the colon resulting in loose bowel movements, rectal bleeding, and belly pain) that is used for other colitis conditions, such as Crohn's disease and…
- Conditions
- Hermanski-Pudlak Syndrome, Colitis, Cytokines, Lymphocytes
- Trial name
- NCT00514982
- Testing
- Mesalamine, Infliximab, Corticosteroids
- Where
- United States
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Myelofibrosis, Gaucher Disease
Clinical and Pathophysiological Investigations Into Erdheim Chester Disease
Background: Erdheim Chester Disease (ECD) is a very rare disease in which abnormal white blood cells start growing and affect the bones, kidneys, skin, and brain.
- Conditions
- Myelofibrosis, Gaucher Disease, Pulmonary Fibrosis, Hermansky-Pudlak Syndrome (HPS)
- Trial name
- NCT01417520
- Where
- United States
- Volunteers
- 88 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hermansky Pudlak Syndrome
A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disease that is associated with oculocutaneous albinism, bleeding, granulomatous colitis, and pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4.
- Trial name
- NCT02368340
- Testing
- Pulmonary function test, Chest CT, Sample collection
- Where
- 5 sites in United States
- Volunteers
- 55 people
- Sponsor
- Vanderbilt University