Clinical and Molecular Correlations in Spinocerebellar At... | NCT00004306

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

NCT00004306

Sponsor

Office of Rare Diseases (ORD)

Status

Completed

Last Update Posted

Mar 6, 2012Estimated

Enrollment

18Actual

Phase

Not provided

Conditions

Hereditary Ataxia

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2012

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Nov 1999

Primary Completion Date

Mar 2009Actual

Completion Date

Mar 2009Actual

First Submitted Date

Oct 18, 1999

First Submission Date that Met QC Criteria

Oct 18, 1999

First Posted Date

Oct 19, 1999Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 5, 2012

Last Update Posted Date

Mar 6, 2012Estimated

Sponsor/Collaborators Module

Responsible Party, by Official Title

Tetsuo Ashizawa, Professor and Chair, Department of Neurology, The University of Texas Medical Branch, Office of Rare Diseases (ORD)Principal Investigator

Lead Sponsor

Office of Rare Diseases (ORD)NIH

Collaborators

Name	Class
The University of Texas Medical Branch, Galveston	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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.

Detailed Description

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

18Actual

Eligibility Module

Eligibility Criteria

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

3 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Patients with inherited ataxia

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Tetsuo Ashizawa, MD	University of Texas, Galveston	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University of Texas Medical Branch at Galveston		Galveston	Texas	77555	United States

Condition Browse Module

MeSH Terms

ID	Term
D013132	Spinocerebellar Degenerations
D009461	Neurologic Manifestations
D001523	Mental Disorders
D035583	Rare Diseases

Ancestor Terms

ID	Term
D002526	Cerebellar Diseases
D001927	Brain Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases

Browse Leaves

Not provided

Browse Branches

Not provided