Status:
RECRUITING
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Hermansky-Pudlak Syndrome (HPS)
Eligibility:
All Genders
1-115 years
Brief Summary
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...
Detailed Description
Study Description: Hermansky-Pudlak syndrome is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation ...
Eligibility Criteria
- INCLUSION CRITERIA
Persons with HPS or family members who are their caregivers aged 1-80 years are eligible to enroll in this protocol. The diagnosis of HPS is based upon a paucity or deficiency of platelet dense bodies on whole mount electron microscopy or the identification of pathogenic variants in HPS genes by genetic testing. Some persons who have not been diagnosed with HPS may be admitted to the protocol based upon the presence of albinism and a platelet storage pool deficiency.
Subjects participating only in the HPS Symptom Questionnaire will be at least 18 years of age.
EXCLUSION CRITERIA
Pregnant women and adults who are unable to provide consent are excluded.
Key Trial Info
Start Date :
November 6 1995
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
Estimated Enrollment :
600 Patients enrolled
Trial Details
Trial ID
NCT00001456
Start Date
November 6 1995
Last Update
April 22 2026
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892