Ignite Creation Date:
2024-05-05 @ 11:22 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00015782
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2001-05-04
Brief Title:
The Natural History and Pathogenesis of Mucolipidosis Type IV
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
The Natural History and Pathogenesis of Mucolipidosis Type IV
Status:
COMPLETED
Status Verified Date:
2008-03-03
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:
Mucolipidosis Type IV ML-IV is a metabolic disorder that causes mental and motor retardation as well as visual impairment There is storage of material in practically all the cells of the body causing problems in the brain and the eyes The disease is caused by a defect in a gene that makes a protein called mucolipin Patients with ML-IV do not make enough normal mucolipin
More than 80 patients have been diagnosed most of whom are Ashkenazi Jews The disease often appears in the first year of life as either delayed motor development or corneal clouding There are conflicting reports concerning the progressive nature of the disease Some patients have clear deterioration while others seem to stay at the same level of the disease for a long time This study may lead to a better understanding of the disease the medical difficulties of patients and better ways of diagnosing ML-IV
Patients with a definite diagnosis of this disease as well as those patients who need confirmation of the disease are candidates for this study Patients will be admitted annually to the Clinical Center for a maximum of five days A history will be taken and a physical exam done Blood and urine tests will be done along with brain wave recording complete eye examination psychological tests and speech and language and rehabilitation evaluations A maximum of 3 mLkg of blood will be drawn from children and a total of 60 mL from adults Various eye tests will also be done some under sedation DNA will be extracted for possible use in other studies A skin biopsy will be taken on the first visit
There is a possibility of improved medical management and rehabilitative treatment as a result of participating in this study
More than 80 patients have been diagnosed most of whom are Ashkenazi Jews The disease often appears in the first year of life as either delayed motor development or corneal clouding There are conflicting reports concerning the progressive nature of the disease Some patients have clear deterioration while others seem to stay at the same level of the disease for a long time This study may lead to a better understanding of the disease the medical difficulties of patients and better ways of diagnosing ML-IV
Patients with a definite diagnosis of this disease as well as those patients who need confirmation of the disease are candidates for this study Patients will be admitted annually to the Clinical Center for a maximum of five days A history will be taken and a physical exam done Blood and urine tests will be done along with brain wave recording complete eye examination psychological tests and speech and language and rehabilitation evaluations A maximum of 3 mLkg of blood will be drawn from children and a total of 60 mL from adults Various eye tests will also be done some under sedation DNA will be extracted for possible use in other studies A skin biopsy will be taken on the first visit
There is a possibility of improved medical management and rehabilitative treatment as a result of participating in this study
Detailed Description:
The purpose of this protocol is to study patients with various neurometabolic disorders Mucolipidosis type IV ML-IV is a developmental and degenerative disease caused by mutations in the MCOLN1 gene leading to an absent or dysfunctional protein called mucolipin The goal of this protocol is to assess the neurological and medical status of these patients and characterize the clinical and laboratory abnormalities in order to determine the natural history of the disease Patients will be followed at least yearly with comprehensive clinical neurological and ophthalmological examinations combined with neuropsychological blood urine and radiological tests
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
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 |
|---|---|---|---|
| 01-N-0166 | None | None | None |