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NCT00005917 · ClinicalTrials.gov registry record
Study of Chediak-Higashi Syndrome
A clinical trial of Chediak-Higashi Syndrome, sponsored by National Human Genome Research Institute (NHGRI).
- Recruiting
- Registry status
- 60
- Enrollment target
- 1
- Study location
NCT00005917 is a study of Chediak-Higashi Syndrome that is actively recruiting participants, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 60 participants. The trial reports 1 study location across 1 state.
The verdict
NCT00005917, a study of Chediak-Higashi Syndrome, is actively recruiting participants, sponsored by National Human Genome Research Institute (NHGRI).
- RECRUITING
- Registry status
- 60 participants
- Enrollment target
- 1
- Study location
Study Summary
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and eventual progression to a lymphohistiocytic infiltration known as the accelerated phase . Death often occurs within the first decade as a result of infection or the development of the accelerated phase; bone marrow transplantation is curative except for the late occurrence of neurological deterioration. The basic defect is unknown, although it probably involves abnormal fusion or trafficking of intracellular vesicles. Patients with classical CHS have their disease due to mutations in the LYST gene, but mildly affected individuals have been reported whose genetic defect has not been defined. It is likely that these variants of CHS have abnormalities in proteins involved in the pathways responsible for vesicle fusion. Since the full clinical spectrum of CHS and its variants has not been characterized, and the underlying defects remain enigmatic, we plan to evaluate this group of patients clinically, biochemically, and molecularly, and perform cell biological studies on their fibroblasts, melanocytes, and transformed lymphoblasts. Routine admissions will be 5 days and may occur every two years, or required by changes in clinical symptomatology.
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 60 participants |
| Start Date | 2002-09-10 |
Interested in This Trial?
Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00005917
The ClinicalTrials.gov registry entry for NCT00005917 describes a study currently listed as recruiting, categorized as an unspecified phase. The registered enrollment target is 60 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 185 total studies on file at ClinicalTrials.gov.
The record links to 1 condition, with Chediak-Higashi Syndrome appearing as the primary indexed condition, and to 0 interventions.
NCT00005917 reports 1 study location spanning 1 distinct geographic area - top geographies include Maryland.
Frequently Asked Questions
What is clinical trial NCT00005917 about?
NCT00005917 is a clinical study titled "Study of Chediak-Higashi Syndrome". Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and eventual progression to a lymphohistiocytic infiltration kn...
What is the current status of trial NCT00005917?
This trial is currently recruiting. The enrollment target is 60 participants. The study started on 2002-09-10.
What conditions does trial NCT00005917 study?
This clinical trial studies the following conditions: Chediak-Higashi Syndrome.
Who is sponsoring clinical trial NCT00005917?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00005917 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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