Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)

OBJECTIVES: I. Clinically evaluate members from families with a dominantly inherited ataxia and collect blood, skin and muscle samples for detailed molecular studies.

II. Perform detailed clinical evaluations on patients with recessively inherited ataxias.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Hereditary Ataxia Brain Diseases Central Nervous System Diseases Cerebellar Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Mental Disorders Nervous System Diseases Neurodegenerative Diseases Neurologic Manifestations Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases Signs and Symptoms Spinal Cord Diseases Spinocerebellar Degenerations

Age range

3 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Texas Medical Branch at Galveston

Galveston, Texas, 77555, United States

About this study

PROTOCOL OUTLINE: Participants undergo a comprehensive clinical and molecular evaluation. Studies include: neurologic evaluation, including magnetic resonance imaging and nerve conduction studies; ophthalmologic exam; audiologic exam, including auditory brain stem evoked response; DNA extraction from blood, skin and muscle; genotype phenotype correlation.

A neuropathologic evaluation is conducted postmortem, when possible.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Subjects who have the diagnosis of SCA10 and their immediate relatives.

Exclusion criteria

Children under 3 years of age, pregnant women, prisoners, mentally incapacitated subjects, and subjects who do not give consent.

Sponsors and collaborators

Lead sponsor

Office of Rare Diseases (ORD)

Nih

Collaborators

The University of Texas Medical Branch, Galveston

Registry information

Official study title

Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)

Important dates

Study start: 1999
Primary completion: 2009
Study completion: 2009
First posted: Oct 19, 1999
Registry last updated: Mar 6, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed