NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

Investigations into Chediak-Higashi Syndrome and Related Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

00-HG-0153

Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1 Mo
Max Age: 70 Years

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

Albinism;
Giant Granules;
Infection;
Melanosomes;
Platelet Storage Pool Defect;
Natural History

Recruitment Keyword(s)

Albinism

Condition(s)

Chediak-Higashi Syndrome

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Human Genome Research Institute

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.

--Back to Top--

Eligibility

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.


--Back to Top--

Citations:

Not Provided

--Back to Top--

Contacts:

Principal Investigator

Referral Contact

For more information:

Wendy J. Introne, M.D.
National Human Genome Research Institute (NHGRI)
NIHBC 10 - CRC BG RM 3-5545
10 CENTER DR
BETHESDA MD 20892
(301) 451-8879
wi2p@nih.gov

Wendy J. Introne, M.D.
National Human Genome Research Institute (NHGRI)
NIHBC 10 - CRC BG RM 3-5545
10 CENTER DR
BETHESDA MD 20892
(301) 451-8879
wi2p@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT00005917

--Back to Top--