Study of Inherited Neurological Disorders

Overview

Official title

Clinical and Molecular Manifestations of Inherited Neurological Disorders

Brief title

Study of Inherited Neurological Disorders

Registration type

ClinicalTrials.gov

NCT number

NCT00004568

Status

Recruiting

Study category

Observational, Genetic, Presymptomatic, Natural history, Biospecimen, Imaging

Sponsor / center

National Institute of Neurological Disorders and Stroke (NINDS)

Research center

Not stated in the official study record.

Collaborators

Not stated in the official study record.

Study type

Observational study

Phase

Not applicable / observational

Enrollment

3500

Start date

02-18-2000

Primary completion date

Not stated in the official study record.

Estimated / actual completion date

Not stated in the official study record.

Last source update

09-28-2026

What is being studied?

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 participants 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, cheek (buccal) swab, skin biopsy and muscle biopsy) will be obtained for future laboratory studies. STUDY POPULATION The number of participants to be enrolled will be set to 3,500 participants with neurological diseases and their unaffected relatives. DESIGN: This is an observational diagnostic study of multiple neurological diseases and their progression and 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.

Intervention(s)

Not stated in the official study record.

Who may be eligible?

This is a simplified summary. The official study team or research center determines eligibility.

Population / disease status

Presymptomatic gene carrier, Diagnosed ALS

Diagnosis / conditions

Motor Neuron Disease, Muscular Disease, Muscular Dystrophy, Peripheral Nervous System Disease

Age

2 Years to 120 Years

Disease duration

Not stated in the official study record.

Respiratory criteria

Not stated in the official study record.

ALSFRS-R criteria

Not stated in the official study record.

Genetic criteria

The official eligibility criteria include language relevant to this topic; review the full criteria below.

Medication requirements

Not stated in the official study record.

Major inclusion and exclusion criteria from the official record

* 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 3,500 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:

-Have a systemic disease that compromises the ability to provide adequate neurologic examination or diagnosis. An example of this would be a contagious disease that would compromise our ability to do an adequate neurological exam.

Genetics

Gene-specific study?

Yes

Gene or variant

Other specified ALS gene

Genetic test required?

Not stated in the official study record.

Known carrier required?

Not stated

Confirmed pathogenic variant required?

Not stated in the official study record.

Presymptomatic carriers eligible?

Yes

At-risk relative eligible?

Not stated

Genetic test provided?

Not stated in the official study record.

Genetic counseling provided?

Not stated in the official study record.

Results returned / offered?

Not stated

Family history required?

Yes

Study design

Randomized?

Not stated in the official study record.

Allocation

Not stated in the official study record.

Intervention model

Not stated in the official study record.

Masking

Not stated in the official study record.

Placebo

Not stated in the official study record.

Primary purpose

Not stated in the official study record.

Endpoints

Primary outcome measures

• Genetic disease identification; Deep phenotyping of rare genetic neurological disorders; Training of fellows and students

Secondary outcome measures

Not stated in the official study record.

A biomarker outcome should not automatically be interpreted as a clinical outcome.

Locations

Contact

Central contact: Alice B Schindler · schindlerab@mail.nih.gov · (301) 496-8969; A. Reghan Foley, M.D. · reghan.foley@nih.gov · (301) 402-2273

Study official: A. Reghan Foley, M.D. · National Institute of Neurological Disorders and Stroke (NINDS) · PRINCIPAL_INVESTIGATOR