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: N/A
Referral Letter Required	No
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Albinism; Giant Granules; Infection; Melanosomes; Platelet Storage Pool Defect
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.

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Eligibility

INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

Patients will be excluded if they cannot travel to NIH due to their medical condition.

Patients who are less than one month old will be excluded.

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Citations:

Gunay-Aygun M, Molecular defects that affect platelet dense granules. Semin Thromb Hemost. 2004. Oct;30(5):537-47.

Introne W, Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab. 1999 Oct;68(2):283-303.

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Contacts:

Principal Investigator	Referral Contact	For more information:
Wendy J. Introne, M.D. National Human Genome Research Institute (NHGRI) National Institutes of Health BG 10-CRC RM 3-5545 MSC 1205 10 CENTER DR BETHESDA MD 20892-1205 (301) 451-8879 wi2p@nih.gov	Wendy J. Introne, M.D. National Human Genome Research Institute (NHGRI) National Institutes of Health BG 10-CRC RM 3-5545 MSC 1205 10 CENTER DR BETHESDA MD 20892-1205 (301) 451-8879 wi2p@nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00005917

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