This study is currently recruiting participants.
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)
Investigational Device(s)
Intervention(s)
Supporting Site
National Human Genome Research Institute
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>
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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.
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.
Principal Investigator
Referral Contact
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