Protocol Details
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome
This study is currently recruiting participants.
Summary
Number |
95-HG-0193 |
Sponsoring Institute |
National Human Genome Research Institute (NHGRI) |
Recruitment Detail |
Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1 Mo
Max Age: 115 Years |
Referral Letter Required |
No |
Population Exclusion(s) |
Adults who are or may become unable to consent |
Keywords |
Albinism;
Platelet Storage Pool Deficiency;
Metabolic Disease;
Pulmonary Fibrosis;
Inflammatory Bowel Disease;
Natural History |
Recruitment Keyword(s) |
None |
Condition(s) |
Hermansky-Pudlak Syndrome (HPS) |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Human Genome Research Institute |
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 fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
The disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The major complication of the disease is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS.
The purpose of this study is to perform research into the medical complications of HPS and begin to understand what causes these complications. Researchers will clinically evaluate patients with HPS of all ethnic backgrounds. They will obtain cells, blood components (plasma), and urine for future studies. Genetic tests (mutation analysis) to detect HPS-causing genes will also be conducted.<TAB>
Eligibility
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.
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT00001456