Clinical trials: Platelet Storage Pool Deficiency
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.
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)
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)
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)
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
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)
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)
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.
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
Platelet Storage Pool Deficiency
Effect of Storage Condition on CD47 Expression Level in Platelet Concentrate
Effect of storage condition on CD47 expression level in platelet concentrate
- Trial name
- NCT05529394
- Volunteers
- 1 people
- Sponsor
- Assiut University
Chediak-Higashi Syndrome
Study of Chediak-Higashi Syndrome
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell…
- Trial name
- NCT00005917
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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)