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Study of Inherited Neurological Disorders

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ClinicalTrials.gov Identifier: NCT00004568
Recruitment Status : Recruiting
First Posted : February 14, 2000
Last Update Posted : February 28, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )

Tracking Information
First Submitted Date February 11, 2000
First Posted Date February 14, 2000
Last Update Posted Date February 28, 2019
Study Start Date February 8, 2000
Primary Completion Date Not Provided
Current Primary Outcome Measures
 (submitted: January 31, 2019)
Genetic disease identification; deep phenotyping of rare genetic neurological disorders; training of fellows and students [ Time Frame: Outcome measures assessed at initial visit and ongoing until a genetic diagnosis made. Duration of study 15 years (per protocol) ]
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.
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00004568 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Study of Inherited Neurological Disorders
Official Title Clinical and Molecular Manifestations of Inherited Neurological Disorders
Brief Summary

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.

Detailed Description

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.

Study Type Observational
Study Design Observational Model: Other
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population general population
Condition
  • Motor Neuron Disease
  • Muscular Disease
  • Muscular Dystrophy
  • Peripheral Nervous System Disease
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: January 26, 2019)
3500
Original Enrollment
 (submitted: June 23, 2005)
1000
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility Criteria
  • 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.
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Years to 110 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Alice B Schindler (301) 496-8969 schindlerab@mail.nih.gov
Contact: Kenneth H Fischbeck, M.D. (301) 435-9318 kf@ninds.nih.gov
Listed Location Countries Mali,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00004568
Other Study ID Numbers 000043
00-N-0043
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) )
Study Sponsor National Institute of Neurological Disorders and Stroke (NINDS)
Collaborators Not Provided
Investigators
Principal Investigator: Kenneth H Fischbeck, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date January 25, 2019