Ignite Creation Date:
2024-05-05 @ 11:23 AM
Last Modification Date:
2024-10-26 @ 9:06 AM
Study NCT ID:
NCT00016562
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2001-05-16
Brief Title:
Cause and Pathogenesis of Neurometabolic Disorders
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
The Etiology and Pathogenesis of Neurometabolic Disorders
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:
This study will examine the origin and development of certain neurological diseases involving abnormal metabolism A significant number of patients with progressive neurological disorders have not been diagnosed despite extensive workups Lack of a specific diagnosis may amplify the distress of both the patient and family and decrease the chance of obtaining effective therapy This study will try to advance the diagnosis and management of such patients
Patients with a metabolic neurological disease of unknown cause or one which presents an unusual or difficult management problem may be eligible for this study This study does not include patients with known or suspected leukodystrophy
Participants will undergo various procedures including physical and neurologic examinations blood and urine tests and magnetic resonance imaging MRI to determine the extent and severity of disease MRI scanning uses a strong magnetic field and radio waves to show structural and chemical changes in the brain During the procedure the patient lies on a table in a narrow cylinder containing a magnetic field He or she can speak with a staff member via an intercom system at all times during the procedure Patients will also have a lumbar puncture spinal tap to examine the cerebrospinal fluid CSF which bathes the brain and spinal cord To obtain the fluid a local anesthetic is administered and a needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord A small amount of fluid is collected through the needle Although spinal fluid will not be examined regularly this test may be requested during some clinic visits
X-rays nuclear medicine scans and consultations may be obtained as needed Other tests may include electroencephalograms brain wave recordings psychological tests and speech and language and rehabilitation evaluations A skin biopsy may be done to grow cells in culture for metabolic and genetic testing and to analyze the skin under a microscope For the biopsy an area of skin is numbed with an anesthetic and a small circular area is removed using a sharp cookie cutter-type instrument
First degree relatives parents children or siblings of patients with a metabolic disorder of unknown cause will be asked to provide a blood sample for DNA studies to try to identify genetic basis of the disorder
The study is expected to continue for 3 years with yearly monitoring of patients for changes in neurological ophthalmological and general medical status
Patients with a metabolic neurological disease of unknown cause or one which presents an unusual or difficult management problem may be eligible for this study This study does not include patients with known or suspected leukodystrophy
Participants will undergo various procedures including physical and neurologic examinations blood and urine tests and magnetic resonance imaging MRI to determine the extent and severity of disease MRI scanning uses a strong magnetic field and radio waves to show structural and chemical changes in the brain During the procedure the patient lies on a table in a narrow cylinder containing a magnetic field He or she can speak with a staff member via an intercom system at all times during the procedure Patients will also have a lumbar puncture spinal tap to examine the cerebrospinal fluid CSF which bathes the brain and spinal cord To obtain the fluid a local anesthetic is administered and a needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord A small amount of fluid is collected through the needle Although spinal fluid will not be examined regularly this test may be requested during some clinic visits
X-rays nuclear medicine scans and consultations may be obtained as needed Other tests may include electroencephalograms brain wave recordings psychological tests and speech and language and rehabilitation evaluations A skin biopsy may be done to grow cells in culture for metabolic and genetic testing and to analyze the skin under a microscope For the biopsy an area of skin is numbed with an anesthetic and a small circular area is removed using a sharp cookie cutter-type instrument
First degree relatives parents children or siblings of patients with a metabolic disorder of unknown cause will be asked to provide a blood sample for DNA studies to try to identify genetic basis of the disorder
The study is expected to continue for 3 years with yearly monitoring of patients for changes in neurological ophthalmological and general medical status
Detailed Description:
On this protocol we will see patients of all ages with a neurodegenerative disorder of unknown etiology as well patients with known diseases that are atypical or present difficult management problems Patients with a known or a suspected leukodystrophy will be excluded from this study Lack of specific diagnosis amplifies the distress felt by patients and families and decreases the chance of effective therapy Clinical and laboratory evaluation will include blood urine spinal fluid peripheral tissue pathology and radiological studies
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-0174 | None | None | None |