| NCT ID | NCT00005917 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Human Genome Research Institute (NHGRI) |
| Condition | Chediak-Higashi Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 60 participants |
| Start Date | 2002-09-10 |
| Primary Completion | — |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 60 participants in total. It began in 2002-09-10.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
Eligibility Criteria
* ELIGIBILITY: Patients will be between the age of 1 month and 70 years. All patients entering this study will have some degree of oculocutaneous albinism plus either a bleeding diathesis or a history of excessive infections in childhood. Objective evidence of a platelet storage pool deficiency (e.g., an abnormal secondary aggregation response or absent platelet dense bodies) or of a lysosomal fusion abnormality (e.g., giant cytoplasmic granules in leucocytes) will not be required.
Contact & Investigator
Wendy J Introne, M.D.
PRINCIPAL INVESTIGATOR
National Human Genome Research Institute (NHGRI)
Frequently Asked Questions
Who can join the NCT00005917 clinical trial?
This trial is open to participants of all sexes, aged 1 Month or older, up to 70 Years, studying Chediak-Higashi Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT00005917 currently recruiting?
Yes, NCT00005917 is actively recruiting participants. Contact the research team at wi2p@nih.gov for enrollment information.
Where is the NCT00005917 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT00005917 clinical trial?
NCT00005917 is sponsored by National Human Genome Research Institute (NHGRI). The principal investigator is Wendy J Introne, M.D. at National Human Genome Research Institute (NHGRI). The trial plans to enroll 60 participants.