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History of Changes for Study: NCT01060371
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Latest version (submitted May 4, 2022) on ClinicalTrials.gov
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Study Record Versions
Version A B Submitted Date Changes
1 January 29, 2010 None (earliest Version on record)
2 April 23, 2010 Recruitment Status, Study Status and Contacts/Locations
3 August 10, 2010 Study Status and Contacts/Locations
4 October 14, 2010 Study Status and Contacts/Locations
5 January 27, 2011 Contacts/Locations and Study Status
6 January 31, 2011 Contacts/Locations and Study Status
7 April 25, 2011 Contacts/Locations and Study Status
8 September 21, 2011 Sponsor/Collaborators and Study Status
9 February 28, 2012 Contacts/Locations and Study Status
10 September 11, 2012 Study Status and Study Description
11 September 14, 2012 Sponsor/Collaborators and Study Status
12 August 2, 2013 Study Status
13 March 4, 2014 Contacts/Locations, Groups and Interventions, Study Status and Outcome Measures
14 May 20, 2014 Study Status
15 January 8, 2015 Study Status
16 April 30, 2015 Study Status, Contacts/Locations, Study Description and Eligibility
17 December 2, 2015 Contacts/Locations and Study Status
18 June 17, 2016 Contacts/Locations, Study Status, Study Description and Sponsor/Collaborators
19 December 5, 2016 Study Status and Study Identification
20 August 16, 2017 Study Status and Study Identification
21 June 21, 2018 Study Status and Contacts/Locations
22 December 27, 2018 Study Status and Study Identification
23 June 21, 2019 Study Status
24 July 19, 2019 Contacts/Locations and Study Status
25 May 27, 2020 Study Status
26 June 4, 2021 Study Status
27 May 4, 2022 Contacts/Locations and Study Status
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Study NCT01060371
Submitted Date:  January 29, 2010 (v1)

Open or close this module Study Identification
Unique Protocol ID: RC1NS068897
Brief Title: Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Official Title: Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Secondary IDs:
Open or close this module Study Status
Record Verification: January 2010
Overall Status: Not yet recruiting
Study Start: January 2010
Primary Completion: January 2015 [Anticipated]
Study Completion: January 2018 [Anticipated]
First Submitted: January 29, 2010
First Submitted that
Met QC Criteria:
January 29, 2010
First Posted: February 2, 2010 [Estimate]
Last Update Submitted that
Met QC Criteria:
January 29, 2010
Last Update Posted: February 2, 2010 [Estimate]
Open or close this module Sponsor/Collaborators
Sponsor: University of Florida
Responsible Party:
Collaborators: National Institute of Neurological Disorders and Stroke (NINDS)
Open or close this module Oversight
U.S. FDA-regulated Drug:
U.S. FDA-regulated Device:
Data Monitoring: Yes
Open or close this module Study Description
Brief 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 2 years and have a total of 4 study related visits done every 6 months.

Detailed Description:
Open or close this module Conditions
Conditions: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 3
Spinocerebellar Ataxia Type 6
Keywords: Spinocerebellar Ataxia
Natural History
Genetic Modifiers
DNA testing
Open or close this module Study Design
Study Type: Observational
Observational Study Model: Cohort
Time Perspective: Prospective
Biospecimen Retention: Samples With DNA
Biospecimen Description: Blood samples collection for DNA analysis and genetic modifier study
Enrollment: 800 [Anticipated]
Number of Groups/Cohorts 4
Open or close this module Groups and Interventions
Groups/Cohorts Interventions
Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 2
Spinocerebellar Ataxia 3
Spinocerebellar Ataxia 6
Open or close this module Outcome Measures
Primary Outcome Measures:
1. The disease's progression over time using clinical rating scales and timed performance measures.
[ Time Frame: 2 years ]

2. Relation between the genetic modifiers and the age at onset of disease and disease progression rates.
[ Time Frame: 2 years ]

Secondary Outcome Measures:
1. The effects of the disease on the Activities of Daily Living (ADL)in patients with Spinocerebellar Ataxias
[ Time Frame: 2 years ]

Open or close this module Eligibility
Study Population:

The Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) is seeking subjects to participate in a clinical research study of patients with SCA 1, 2 3 and 6.

Potential participants should have symptoms of ataxia with a diagnosis of SCA 1,2,3 or 6 established by DNA tests either on the patient himself or herself or another affected family member and be between 18 and 80 years of age. In addition, patients who have ataxia with a dominant inheritance pattern but who do not yet know what type of SCA they have can also be screened for this project.

Sampling Method: Non-Probability Sample
Minimum Age: 6 Years
Maximum Age:
Sex: All
Gender Based:
Accepts Healthy Volunteers: No
Criteria:

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
Open or close this module Contacts/Locations
Study Officials: Tetsuo Ashizawa, MD
Study Chair
University of Florida
Locations: United States, Florida
University of Florida
Gainesville, Florida, United States, 32610
Contact:Contact: Phuong Deleyrolle, Nurse 352-273-9194 phuong.deleyrolle@neurology.ufl.edu
Contact:Principal Investigator: Tetsuo Ashizawa, MD
Contact:Sub-Investigator: S H Subramony, MD
Open or close this module IPDSharing
Plan to Share IPD:
Open or close this module References
Citations:
Links: Description: National Ataxia Foundation
Available IPD/Information:

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