Protocol Number: 95-HG-0193

Title:

Clinical and Basic Investigations into Hermansky-Pudlak Syndrome

Number:

95-HG-0193

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), 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.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA

HPS patients of any gender and ethnicity age 1-70 years are eligible to enroll in this protocol.

Patients will be diagnosed as having HPS based upon a paucity or deficiency of platelet dense bodies on whole mount electron microscopy.

Some patients who have not yet had this laboratory test will be admitted to the protocol based upon the presence of albinism combined with a platelet storage pool deficiency.

EXCLUSION CRITERIA

Patient will be excluded if they cannot travel to the NIH because of their medical condition, or are less than 1 year of age.

Special Instructions:

Because many Puerto Rican patients are already enrolled in this protocol, we are especially interested in non-Puerto Rican patients for comparison.

Keywords:

Albinism

Ceroid Lipofuscin

Dolichols

Platelet Storage Pool Deficiency

Inborn Error of Metabolism

Metabolic Disease

Platelets

Dense Bodies

Locus Heterogeneity

Recruitment Keywords:

Hermansky-Pudlak Syndrome

Conditions:

Albinism

Intestinal Disease

Kidney Disease

Myocardial Disease

Pulmonary Fibrosis

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Albinism and Hermansky-Pudlak syndrome in Puerto Rico

Hermansky-Pudlak syndrome Pulmonary manifestations of a ceroid storage disorder

Hermansky-Pudlak syndrome with granulomatous colitis

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

Search The Studies | Help | Questions |
Clinical Center Home | NIH Home

Warren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/16/2004