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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)
BG 10-CRC RM 3-5545
10 CENTER DR
BETHESDA MD 20814
(301) 451-8879
wi2p@nih.gov

Wendy J. Introne, M.D.
National Human Genome Research Institute (NHGRI)
BG 10-CRC RM 3-5545
10 CENTER DR
BETHESDA MD 20814
(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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