NCT00001667

Brief Summary

The purpose of this protocol is to identify families with inherited neurologic conditions, especially movement disorders, to evaluate affected and unaffected individuals clinically, and to obtain blood samples for genetic analysis.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
300

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Mar 1997

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 1, 1997

Completed
2.7 years until next milestone

First Submitted

Initial submission to the registry

November 3, 1999

Completed
5 months until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2000

Completed
2.7 years until next milestone

First Posted

Study publicly available on registry

December 10, 2002

Completed
Last Updated

March 4, 2008

Status Verified

February 1, 1999

First QC Date

November 3, 1999

Last Update Submit

March 3, 2008

Conditions

Movement DisordersMyoclonusNervous System DiseasesTic DisordersTremor

Keywords

Family StudiesGeneticMyoclonusTicsTremorMovement DisordersNeurological Disease

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Neurologic disease or movement disorders affecting 2 or more family members. No conditions in which phlebotomy is contra-indicated.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

National Institute of Neurological Disorders and Stroke (NINDS)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

  • Higgins JJ, Nee LE, Vasconcelos O, Ide SE, Lavedan C, Goldfarb LG, Polymeropoulos MH. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology. 1996 Jan;46(1):208-13. doi: 10.1212/wnl.46.1.208.

    PMID: 8559377BACKGROUND

  • Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W, Steiner CE, Pinto-Junior W, Maciel JA, Jerin S, Sack G, Andermann E, Sudarsky L, Rosenberg R, MacLeod P, Chitayat D, Babul R, Sequeiros J, Rouleau GA. Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology. 1996 Jan;46(1):214-8. doi: 10.1212/wnl.46.1.214.

    PMID: 8559378BACKGROUND

  • Ichinose H, Ohye T, Matsuda Y, Hori T, Blau N, Burlina A, Rouse B, Matalon R, Fujita K, Nagatsu T. Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem. 1995 Apr 28;270(17):10062-71. doi: 10.1074/jbc.270.17.10062.

    PMID: 7730309BACKGROUND

MeSH Terms

Conditions

Movement DisordersMyoclonusNervous System DiseasesTic DisordersTremorTics

Condition Hierarchy (Ancestors)

Central Nervous System DiseasesDyskinesiasNeurologic ManifestationsSigns and SymptomsPathological Conditions, Signs and SymptomsNeurodevelopmental DisordersMental Disorders

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

November 3, 1999

First Posted

December 10, 2002

Study Start

March 1, 1997

Study Completion

April 1, 2000

Last Updated

March 4, 2008

Record last verified: 1999-02

Locations

US(1)