Neurodegenerative DiseaseNCT00016562
Cause and Pathogenesis of Neurometabolic Disorders
An observational study of Neurodegenerative Disease, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neurodegenerative Disease
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- 13 May 2001to 3 Mar 2008
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patients are those referred by their physician for a second opinion because of inability to arrive at a diagnosis despite a reasonably complete evaluation.
- Written informed consent given by the patient or his/her guardian.
Who cannot join
- Patients with a known or suspected leukodystrophy will be excluded from this study.
- Patients who are unable to come to the NIH.
- When no informed consent was given.
- If on the opinion of the investigator, participation in this protocol will be to the detriment of the patient.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: The Etiology and Pathogenesis of Neurometabolic Disorders
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.
Read more
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.
Read the 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.
- Conditions
- Neurodegenerative Disease
- Keywords
- Genetic, Degenerative, Lysosomal, Brain, Mental Retardation, Neurodegenerative Disorder, Neurometabolic, Metabolic Neurological Disorder, Abnormal Metabolism
- Medical subject headings
- Neurodegenerative Diseases, Intellectual Disability
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 May 2001 (estimated)
- Study start13 May 2001
- Study completion3 Mar 2008
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurodegenerative DiseaseStudies of the same condition, open and under way.
- More trials run by National Institute of Neurological Disorders and Stroke (NINDS)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 20 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00016562
- Sponsor's protocol ID
- 010174
- Other IDs
- 01-N-0174
- Status last verified
- 3 Mar 2008
- First submitted
- 16 May 2001
- Last updated
- 2 Jul 2017
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Etiology and Pathogenesis of Neurometabolic Disorders
- ClinicalTrials.gov ID
- NCT00016562
- Acronym / sponsor ID
- 010174
- Conditions
- Neurodegenerative Disease
- Keywords
- Genetic, Degenerative, Lysosomal, Brain, Mental Retardation, Neurodegenerative Disorder, Neurometabolic, Metabolic Neurological Disorder
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 20 participants
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- 13 May 2001
- Study completion
- 3 Mar 2008
- First posted
- 17 May 2001 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- Patients are those referred by their physician for a second opinion because of inability to arrive at a diagnosis despite a reasonably complete evaluation.
- Written informed consent given by the patient or his/her guardian.
Key exclusion criteria (4 listed)
- Patients with a known or suspected leukodystrophy will be excluded from this study.
- Patients who are unable to come to the NIH.
- When no informed consent was given.
- If on the opinion of the investigator, participation in this protocol will be to the detriment of the patient.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2017.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurodegenerative Disease, run by National Institute of Neurological Disorders and Stroke (NINDS) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2017; AzTrials last refreshed its copy on 7 Nov 2026.