Ignite Creation Date:
2024-05-05 @ 10:22 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001456
Status:
RECRUITING
Last Update Posted:
2024-06-28
First Post:
1999-11-03
Brief Title:
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Status:
RECRUITING
Status Verified Date:
2024-09-23
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 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 conductedTAB
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 conductedTAB
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 of ceroid lipofuscin Other manifestations include pulmonary fibrosis often fatal in the fourth or fifth decade chronic granulomatous colitis and rarely renal involvement or cardiomyopathy The purpose of this protocol is to evaluate individuals with HPS perform mutation analysis for known HPS-causing genes search for variants in other genes responsible for HPS and obtain specimens to analyze basic mechanisms of HPS
Objectives
Primary Objective Assess the clinical severity of HPS to study the natural history of disease to identify variants in genes associated with HPS and to investigate basic defects in HPS and mechanisms of disease
Study Population
All participants will be persons with HPS or their family members aged 1-80 years The enrollment ceiling is 600 we estimate that approximately 200 subjects will participate only in the HPS Symptom Questionnaire Family members who are caregivers of affected individuals including children may be invited to participate in the HPS Symptom Questionnaire to provide responses related to their affected relative We anticipate enrolling 2-10 new subjects per year under this protocol
Hermansky-Pudlak syndrome is a rare autosomal recessive disease consisting of oculocutaneous albinism a platelet storage pool defect and in some patients lysosomal accumulation of ceroid lipofuscin Other manifestations include pulmonary fibrosis often fatal in the fourth or fifth decade chronic granulomatous colitis and rarely renal involvement or cardiomyopathy The purpose of this protocol is to evaluate individuals with HPS perform mutation analysis for known HPS-causing genes search for variants in other genes responsible for HPS and obtain specimens to analyze basic mechanisms of HPS
Objectives
Primary Objective Assess the clinical severity of HPS to study the natural history of disease to identify variants in genes associated with HPS and to investigate basic defects in HPS and mechanisms of disease
Study Population
All participants will be persons with HPS or their family members aged 1-80 years The enrollment ceiling is 600 we estimate that approximately 200 subjects will participate only in the HPS Symptom Questionnaire Family members who are caregivers of affected individuals including children may be invited to participate in the HPS Symptom Questionnaire to provide responses related to their affected relative We anticipate enrolling 2-10 new subjects per year under this protocol
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 95-HG-0193 | None | None | None |