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| Sponsored by: |
National Human Genome Research Institute (NHGRI) |
|---|---|
| Information provided by: | National Institutes of Health Clinical Center (CC) |
| ClinicalTrials.gov Identifier: | NCT00005917 |
Purpose
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:
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.
| Condition |
|---|
|
Chediak Higashi Syndrome |
| Study Type: | Observational |
| Official Title: | Investigations Into Chediak-Higashi Syndrome and Related Disorders |
| Estimated Enrollment: | 20 |
| Study Start Date: | June 2000 |
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 bleeding, infection, or 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 occur every two years or as indicated by new data.
Eligibility| Ages Eligible for Study: | 1 Month and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
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.
Contacts and Locations| Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
| Contact: TTY | 1-866-411-1010 |
| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
More Information
| Study ID Numbers: | 000153, 00-HG-0153 |
| Study First Received: | June 16, 2000 |
| Last Updated: | August 19, 2008 |
| ClinicalTrials.gov Identifier: | NCT00005917 |
| Health Authority: | United States: Federal Government |
|
Albinism Giant Granules Infection |
Melanosomes Platelet Storage Pool Defect Albinism |
|
Hematologic Diseases Leukocyte Disorders Chediak-Higashi syndrome Platelet Storage Pool Deficiency |
Chediak-Higashi Syndrome Immunologic Deficiency Syndromes Albinism |
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Phagocyte Bactericidal Dysfunction Pathologic Processes Disease Immune System Diseases Syndrome |
