Clinical trials: Platelet Storage Pool Deficiency
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)
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)
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)