Hereditary AtaxiaNCT00004306
Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
An observational study of Hereditary Ataxia, run by Office of Rare Diseases (ORD) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 years and older
- Conditions the study is for
- Hereditary Ataxia
- How many people
- 18 participants
- Where
- 1 siteUnited States
- Study dates
- Nov 1999to Mar 2009
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with inherited ataxia
Who may be able to join
- Subjects who have the diagnosis of SCA10 and their immediate relatives.
Who cannot join
- Children under 3 years of age, pregnant women, prisoners, mentally incapacitated subjects, and subjects who do not give consent.
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Texas Medical Branch at Galveston
Galveston, Texas, 77555
About this study
Official title: Pathogenic Mechanism of 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.
Read the 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.
- Conditions
- Hereditary Ataxia
- Keywords
- hereditary ataxia, neurologic and psychiatric disorders, rare disease
- Medical subject headings
- Spinocerebellar Degenerations, Neurologic Manifestations, Mental Disorders, Rare Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 1999 (estimated)
- Study startNov 1999
- Primary completionMar 2009
- Study completionMar 2009
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary AtaxiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 18 participants (actual)
Sponsor and investigators
- Lead sponsor
- Office of Rare Diseases (ORD)
- Sponsor type
- US National Institutes of Health
- Collaborators
- The University of Texas Medical Branch, Galveston
- Responsible party
- Principal investigator, Tetsuo Ashizawa, Office of Rare Diseases (ORD)
- Investigators
- Tetsuo Ashizawa, MD, Principal investigator, University of Texas, Galveston
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00004306
- Sponsor's protocol ID
- 199/11796
- Status last verified
- Mar 2012
- First submitted
- 18 Oct 1999
- Last updated
- 6 Mar 2012
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)
- ClinicalTrials.gov ID
- NCT00004306
- Acronym / sponsor ID
- 199/11796
- Conditions
- Hereditary Ataxia
- Keywords
- hereditary ataxia, neurologic and psychiatric disorders, rare disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 18 participants (actual)
- Lead sponsor
- Office of Rare Diseases (ORD)US National Institutes of Health
- Collaborators
- The University of Texas Medical Branch, Galveston
- Study start
- Nov 1999
- Primary completion
- Mar 2009 (actual)
- Study completion
- Mar 2009 (actual)
- First posted
- 19 Oct 1999 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with inherited ataxia
Key inclusion criteria (1 listed)
- Subjects who have the diagnosis of SCA10 and their immediate relatives.
Key exclusion criteria (1 listed)
- Children under 3 years of age, pregnant women, prisoners, mentally incapacitated subjects, and subjects who do not give consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Mar 2012.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Tetsuo Ashizawa, MD principal investigator
University of Texas, Galveston
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Ataxia, run by Office of Rare Diseases (ORD) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Mar 2012. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Mar 2012.