Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

Conditions

• Hermansky-Pudlak Syndrome (HPS)

Eligibility Criteria

Sex

ALL

Age

1 Month - 115 Years

Healthy Volunteers

Not accepted

Study Details

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\>

Key Dates

Start date

Nov 6, 1995

Status verified

May 2026

Study Design

Enrollment

600 participants (estimated)

Arms

• Arm: HPS
  HPS patients of any sex and ethnicity age 1-80 years
• Arm: HPS Symptom Questionnaire
  Includes both patients and family members or caregivers.

Primary Outcome Measure

Natural History [ Time Frame: Ongoing ]

Central Contacts

• Wendy J Introne, M.D.
  (301) 451-8879
  [email protected]

Locations (1)

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