Ignite Creation Date:
2024-05-05 @ 9:36 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00005917
Status:
RECRUITING
Last Update Posted:
2024-07-03
First Post:
2000-06-16
Brief Title:
Study of Chediak-Higashi Syndrome
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Investigations Into Chediak-Higashi Syndrome and Related Disorders
Status:
RECRUITING
Status Verified Date:
2024-07-18
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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
Detailed Description:
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 often progression to a lymphohistiocytic infiltration known as the accelerated phase Death generally 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 However our research has identified mildly affected individuals who present primarily with a neurological phenotype characterized by central and peripheral nervous system involvement In addition classical cases treated with bone marrow transplant BMT and surviving into adulthood usually develop neurological symptoms adding relevance to the study of pathophysiology of this disease outside of the hematological and immune systems The only gene known to be associated with CHS is LYST however there are some patients with CHS in whom mutations have not been found suggesting locus heterogeneity A genotype-phenotype correlation had begun to emerge but recent reports noted exceptions to this correlation The basic defect is unknown although it probably involves abnormal fusion or trafficking of intracellular vesicles With regards to neurologic involvement LYST likely also plays a role in neuronal axonal transport and neurotransmitter pools We plan to evaluate individuals with CHS clinically biochemically and molecularly and perform cell biological studies on their fibroblasts melanocytes and transformed lymphoblasts Routine admissions may be 3-5 days and may occur every one to two years or as required by changes in clinical symptomatology
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 00-HG-0153 | None | None | None |