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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT01060371
Other study ID # IRB201700740
Secondary ID 505-2009OCR16458
Status Recruiting
Phase
First received
Last updated
Start date April 2010
Est. completion date May 19, 2024

Study information

Verified date May 2023
Source University of Florida
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2,3, and 6 (SCA 1, SCA 2, SCA 3 , also known as Machado-Joseph disease and SCA 6). The diseases are rare, slowly progressive, cause increasingly severe neurological difficulties and are variable across and within genotypes. The purpose of this research study is to bring together a group of experts in the field of SCA for the purpose of learning more about the disease. The research questions are: 1. How does your disease progress over time? 2. What are the best ways to measure the progression? 3. Do some genes, other than the gene that is abnormal in your disease, have any effect on the way the disease behaves? This is a nationwide study and we expect that 800 patients will participate all over the USA. The participants will be in the study for an indeterminate period of time. Study visits will be done every 6 or 12 months depending on the participating site.


Description:

If you decide to participate in this study, we will collect 1 tablespoon (15 milliliters) of blood during the first/screening visit in order to extract your DNA. The sample will be sent to the research laboratory of Dr Stefan Pulst at the University of Utah for the study of genetic factors that modify the course of your disease. As part of this study, we would like to put some of your blood in a tissue repository. Submission of your sample to the repository may give scientists valuable research material that can help them to develop new diagnostic tests, new treatments, and new ways to prevent diseases. Scientists will not use your sample, or material isolated from it, for commercial products or services. Your blood will be kept by Dr. Stefan Pulst. Your sample will not have your name or other personal information linked to it. Your sample may be shared with researchers at the University of Utah and at other institutions. The only information we will keep with the sample is your age, what disease you have, the age at onset of your disease and the duration of the disease. The principal investigator at your site will be the only person who can link the sample to you. You can have your sample removed from the bank later by written request to your PI. You do not have to participate in the genetic modifier study or the tissue repository to be in the remaining part of this study. You will also be asked to complete several assessments that include questionnaires, motor function test, a neurological exam and a physical exam.


Other known NCT identifiers
  • NCT01223417

Recruitment information / eligibility

Status Recruiting
Enrollment 800
Est. completion date May 19, 2024
Est. primary completion date May 19, 2024
Accepts healthy volunteers No
Gender All
Age group 6 Years and older
Eligibility Inclusion Criteria: - Presence of symptomatic ataxic disease - Definite molecular diagnosis of SCA 1, 2,3,or 6 either in the subject or another affected family member - Willingness to participate in the study and ability to give informed consent. - Age 6 years and above Exclusion Criteria: - Known recessive, X-linked and mitochondrial ataxias - Exclusion of SCA 1, 2, 3 and 6 by previous DNA testing, - A lack of willingness to participate in the study

Study Design


Intervention

Genetic:
All Participants
If you decide to participate in this study, we will collect 1 tablespoon (15 milliliters) of blood during the first/screening visit in order to extract your DNA.

Locations

Country Name City State
United States University of Michigan Ann Arbor Michigan
United States Emory University Atlanta Georgia
United States John Hopkins University Baltimore Maryland
United States Harvard University Boston Massachusetts
United States University of Chicago Chicago Illinois
United States University of Florida Gainesville Florida
United States University of California Los Angeles Los Angeles California
United States University of Minnesota Minneapolis Minnesota
United States Columbia University New York New York
United States University of Utah Salt Lake City Utah
United States University of California San Francisco San Francisco California
United States University of South Florida Tampa Florida

Sponsors (3)

Lead Sponsor Collaborator
University of Florida National Ataxia Foundation, University of California, Los Angeles

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary The disease's progression over time using clinical rating scales and timed performance measures. Indefinitely (for as long as the study is open and you wish to participate)
Primary Relation between the genetic modifiers and the age at onset of disease and disease progression rates. Indefinitely (for as long as the study is open and you wish to participate)
Secondary The effects of the disease on the Activities of Daily Living (ADL)in patients with Spinocerebellar Ataxias indefinitely
See also
  Status Clinical Trial Phase
Completed NCT00992771 - Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3 Phase 2
Completed NCT01096082 - Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3 Phase 2/Phase 3
Active, not recruiting NCT03701399 - Troriluzole in Adult Subjects With Spinocerebellar Ataxia Phase 3
Active, not recruiting NCT04229823 - Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of SCA3/MJD
Active, not recruiting NCT04419974 - Astrocytic Markers and the Pre-ataxic Period of SCA3/MJD - BIGPRO Study Astrocytes
Terminated NCT05490563 - STRIDES - a Clinical Research Study of an Investigational New Drug to Treat Spinocerebellar Ataxia Phase 2/Phase 3
Withdrawn NCT04301284 - Study of CAD-1883 for Spinocerebellar Ataxia Phase 2
Withdrawn NCT01096095 - Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3 Phase 2
Active, not recruiting NCT04268147 - Instrumented Data Exchange for Ataxia Study
Recruiting NCT01793168 - Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Active, not recruiting NCT05826171 - Priming Motor Learning Through Exercise in People With Spinocerebellar Ataxia N/A
Recruiting NCT04399265 - Efficacy Of Oral Trehalose In Spinocerebellar Ataxia 3 N/A
Completed NCT03885167 - Identification of Biomarkers in Spinocerebellar Ataxia 3
Terminated NCT05160558 - A Pharmacokinetics and Safety Study of BIIB132 in Adults With Spinocerebellar Ataxia 3 Phase 1
Recruiting NCT05822908 - A Safety and Pharmacokinetics Trial of VO659 in SCA1, SCA3 and HD Phase 1/Phase 2
Not yet recruiting NCT03378414 - Umbilical Cord Mesenchymal Stem Cells Therapy (19#iSCLife®-SA) for Patients With Spinocerebellar Ataxia Phase 2
Completed NCT05502432 - Repetitive Transcranial Magnetic Stimulation in SCA3 Patients N/A
Recruiting NCT04714307 - Neuropsychiatry and Cognition in SCA3/MJD
Recruiting NCT05557786 - Treatment of Transcranial Alternating Current Stimulation(tACS)on Cerebellar Ataxia

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