Study of Chediak-Higashi Syndrome
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | Any - 70 |
| Updated: | 12/22/2018 |
| Start Date: | May 30, 2000 |
| Contact: | Wendy J Introne, M.D. |
| Email: | wi2p@nih.gov |
| Phone: | (301) 451-8879 |
Investigations Into Chediak-Higashi Syndrome and Related Disorders
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.
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.
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.
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.
- 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.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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