Study of Inherited Neurological Disorders
| Status: | Recruiting |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | 2 - 110 |
| Updated: | 3/2/2019 |
| Start Date: | February 8, 2000 |
| Contact: | Alice B Schindler |
| Email: | schindlerab@mail.nih.gov |
| Phone: | (301) 496-8969 |
Clinical and Molecular Manifestations of Inherited Neurological Disorders
This study is designed to learn more about the natural history of inherited neurological
disorders and the role of heredity in their development. It will examine the genetics,
symptoms, disease progression, treatment, and psychological and behavioral impact of diseases
in the following categories: hereditary peripheral neuropathies; hereditary myopathies;
muscular dystrophies; hereditary motor neuron disorders; mitochondrial myopathies; hereditary
neurocognitive disorders; inherited neurological disorders without known diagnosis; and
others. Many of these diseases, which affect the brain, spinal cord, muscles, and nerves, are
rare and poorly understood.
Children and adults of all ages with various inherited neurological disorders may be eligible
for this study. Participants will undergo a detailed medical and family history, and a family
tree will be drawn. They will also have a physical and neurological examination that may
include blood test and urine tests, an EEG (brain wave recordings), psychological tests, and
speech and language and rehabilitation evaluations. A blood sample or skin biopsy may be
taken for genetic testing. Depending on the individual patient s symptoms, imaging tests such
as X-rays, CT or MRI scans and muscle and nerve testing may also be done.
Information from this study may provide a better understanding of the genetic underpinnings
of these disorders, contributing to improved diagnosis, treatment, and genetic counseling,
and perhaps leading to additional studies in these areas.
disorders and the role of heredity in their development. It will examine the genetics,
symptoms, disease progression, treatment, and psychological and behavioral impact of diseases
in the following categories: hereditary peripheral neuropathies; hereditary myopathies;
muscular dystrophies; hereditary motor neuron disorders; mitochondrial myopathies; hereditary
neurocognitive disorders; inherited neurological disorders without known diagnosis; and
others. Many of these diseases, which affect the brain, spinal cord, muscles, and nerves, are
rare and poorly understood.
Children and adults of all ages with various inherited neurological disorders may be eligible
for this study. Participants will undergo a detailed medical and family history, and a family
tree will be drawn. They will also have a physical and neurological examination that may
include blood test and urine tests, an EEG (brain wave recordings), psychological tests, and
speech and language and rehabilitation evaluations. A blood sample or skin biopsy may be
taken for genetic testing. Depending on the individual patient s symptoms, imaging tests such
as X-rays, CT or MRI scans and muscle and nerve testing may also be done.
Information from this study may provide a better understanding of the genetic underpinnings
of these disorders, contributing to improved diagnosis, treatment, and genetic counseling,
and perhaps leading to additional studies in these areas.
The Neurogenetics Branch (NGB) within the National Institute of Neurological Disorders and
Stroke (NINDS) is conducting a study to evaluate and provide genetic diagnosis to
participants with various diagnosed and undiagnosed neurological conditions.
OBJECTIVES:
The primary objective of this protocol is to provide a resource of patients for enrollment
into new research protocols throughout the NGB and other NIH laboratories. Evaluating and
diagnosing participants will allow the NGB specialists to maintain their expertise and gain
additional knowledge of the course of various neurological disorders. The information
obtained will allow for the evaluation and diagnosis of the studied neurological diseases.
This understanding may lead to ideas for future protocols. In some cases, blood or other
biologic samples (including urine, saliva, or a cheek swab) will be obtained for future
laboratory studies.
STUDY POPULATION
The number of participants to be enrolled will be set to 3,500 patients with neurological
diseases and their unaffected relatives.
DESIGN:
This is an observational diagnostic study of multiple neurological diseases and their
pathophysiology.
OUTCOME MEASURES:
No formal outcomes will be measured; however the clinical assessments of enrolled
participants can be used to characterize the disease manifestations. In addition, DNA samples
obtained may be used to identify and verify causative mutations as well as identify novel
genes, which may help establish pathogenic mechanisms and genotype-phenotype correlations.
Stroke (NINDS) is conducting a study to evaluate and provide genetic diagnosis to
participants with various diagnosed and undiagnosed neurological conditions.
OBJECTIVES:
The primary objective of this protocol is to provide a resource of patients for enrollment
into new research protocols throughout the NGB and other NIH laboratories. Evaluating and
diagnosing participants will allow the NGB specialists to maintain their expertise and gain
additional knowledge of the course of various neurological disorders. The information
obtained will allow for the evaluation and diagnosis of the studied neurological diseases.
This understanding may lead to ideas for future protocols. In some cases, blood or other
biologic samples (including urine, saliva, or a cheek swab) will be obtained for future
laboratory studies.
STUDY POPULATION
The number of participants to be enrolled will be set to 3,500 patients with neurological
diseases and their unaffected relatives.
DESIGN:
This is an observational diagnostic study of multiple neurological diseases and their
pathophysiology.
OUTCOME MEASURES:
No formal outcomes will be measured; however the clinical assessments of enrolled
participants can be used to characterize the disease manifestations. In addition, DNA samples
obtained may be used to identify and verify causative mutations as well as identify novel
genes, which may help establish pathogenic mechanisms and genotype-phenotype correlations.
- Participants include those with inherited neurological conditions based on the
training and research needs of the Neurogenetics Branch program. There is no logical
limit; however the total number of participants that can be enrolled in the protocol
will be restricted. No more than 2,000 participants with either diagnosed or
undiagnosed neurological conditions and their unaffected relatives will be enrolled in
this evaluation and diagnostic protocol.
INCLUSION CRITERIA:
Participants will be eligible if they:
- Have either a known or suspected, inherited neurological disease, OR are an unaffected
relative (first-, second-, third, or higher degree relative) of a participant with a
genetic neurological disease.
- Have the ability to understand and sign an informed consent or have a parent/legal
guardian to do so if they are minor children or a legal guardian to provide consent
for adults without consent capacity.
- Aged 2 years and above.
EXCLUSION CRITERIA:
Participants will not be eligible if they:
- Are unwilling or unable to be followed as clinically indicated.
- Have a systemic disease that compromises the ability to provide adequate neurologic
examination or diagnosis.
INCLUSION CRITERIA FOR MALI:
Participants will be eligible if they:
- Have either a known or suspected, inherited neurological disease, OR are an unaffected
relative (first-, second-, third, or higher degree relative) of a participant with a
genetic neurological disease.
- Have the ability to understand and sign an informed consent or have a parent/legal
guardian to do so if they are minor children or a legal guardian to provide consent
for adults without consent capacity.
- Aged 2 years and above.
EXCLUSION CRITERIA FOR MALI:
- Participants will not be eligible if they:
- Are unwilling or unable to be followed as clinically indicated.
- Have a systemic disease that compromises the ability to provide adequate neurologic
examination or diagnosis.
We found this trial at
2
sites
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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