NIH Clinical Research Studies

Protocol Number: 00-HG-0153

Active Accrual, Protocols Recruiting New Patients

Title:
Investigations into Chediak-Higashi Syndrome and Related Disorders
Number:
00-HG-0153
Summary:
This study will investigate the underlying cause of Chediak-Higashi syndrome (CHS)-a rare inherited disease-and define the full spectrum of medical complications associated with it. It will study the LYST gene - the gene responsible for classic CHS-and investigate other genes that may cause milder forms of the syndrome.

Patients with CHS have a range of medical problems, including decreased pigment in the skin and eyes, a tendency toward bleeding because of a platelet dysfunction and recurrent infections due to white cell abnormalities. Some patients also have neurologic problems, such as poor sensation in the arms and legs. The only cure for CHS is bone marrow transplantation, but other measures can be taken, such as avoiding aspirin to prevent bleeding episodes.

Patients one month or older with decreased pigmentation and either a bleeding abnormality or history of excessive childhood infections may be eligible for this study, which is expected to continue for 5 to 10 years. Participants will be admitted to the NIH Clinical Center for about 5 days every 1 to 3 years, depending on the severity of their conditions, for the following procedures:

1. Medical history, physical examination, complete eye examination and consultations with infectious disease and neurology specialists

2. Blood tests, including routine tests, such as complete blood count, blood chemistries, etc.; tests to look for giant granules and platelet dense bodies; tests to examine white blood cell function; and tests to analyze DNA of the LYST gene

3. 24-hour urine collection to assess kidney function

4. Skin biopsy to study cells called fibroblasts, in which an area of skin is numbed with an anesthetic and a circular area 4 mm in diameter is then removed using a sharp punch and scissors. The wound is then dressed; healing time is usually within a week.

5. Visual evoked response test, in which small electrodes are applied to the scalp (similar to an electroencephalogram). The patient looks at a screen with changing patterns and at flashes of light while the electrical activity of the brain is recorded.

Depending on the individual patient's condition, consultations may also be arranged with hematology (blood), dermatology (skin) and pulmonology (lungs). Additional tests may include X-rays, computerized tomography (CT) or magnetic resonance imaging (MRI) of the head, pulmonary function tests to measure breathing capacity, and photographs of the face and body taken with underwear on.

Sponsoring Institute:
National Human Genome Research Institute (NHGRI)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): None

Eligibility Criteria:
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.

Special Instructions: Currently Not Provided
Keywords:
Albinism
Giant Granules
Infection
Melanosomes
Platelet Storage Pool Defect
Recruitment Keywords:
Albinism
Conditions:
Chediak Higashi Syndrome
Investigational Drug(s):
None
Investigational Device(s):
None

Contacts:
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

Electronic Mail:prpl@mail.cc.nih.gov

Citations:
Chediak-Higashi syndrome in a black infant A light and electron microscopic study whith special emphasis on erythrophagocytosis

A human pigmentary dilution based on a heritable subcellular structural defect - the Chediak-Higashi syndrome

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

Active Accrual, Protocols Recruiting New Patients

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