Trial record 2 of 4 for:    SPINOCEREBELLAR ATAXIA 6

RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7

The recruitment status of this study is unknown because the information has not been verified recently.
Verified January 2012 by Institut National de la Santé Et de la Recherche Médicale, France.
Recruitment status was  Active, not recruiting
Sponsor:
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier:
NCT01037777
First received: December 21, 2009
Last updated: January 27, 2012
Last verified: January 2012
  Purpose

The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of autosomal dominantly inherited progressive ataxia disorders. It is estimated that there are 30,000 individuals in the European Community that directly descend from individuals affected by a SCA disorder and thus carry a 50% risk of having inherited an SCA mutation. These at risk individuals provide a unique research opportunity to prospectively study the presymptomatic phase of SCA disorders and to identify the earliest and most sensitive clinical signs and biological markers that herald the onset of the illness. This information is of critical importance for the development of future therapeutic interventions aimed at postponing the clinical onset of ataxia.

We therefore propose to perform a prospective observational study of individuals at risk for the most common SCA disorders, SCA1, SCA2, SCA3 and SCA6 (RISCA). It is our aim to answer the following questions: (1) What is the incidence of disease manifestation in mutation carriers? (2) Which clinical signs precede the onset of manifest ataxia in SCA1, SCA2, SCA3 and SCA6? (3) What are the prevalence and incidence of preceding signs? (4) Are the prevalence and incidence of preceding signs affected by genotype, gender, age, estimated time until disease manifestation and repeat length? (5) Does the presence of certain preceding signs predict the manifestation of ataxia ? (6) Are there MRI alterations that precede the onset of ataxia? It is planned to enroll 480 study participants and to follow them at regular intervals over six years. At each visit, study participants are asked in a structured interview for a number of predefined clinical signs that potentially precede the onset of ataxia. In addition, the following self-assessment scales will be applied: Pittsburgh Sleep Quality Index (PSQI), Diagnostic Criteria for Restless Legs Syndrome, Patient´s Health Questionnaire (PHQ-9). All study participants will undergo a physical examination including the Scale for the Assessment and Rating of Ataxia (SARA). Study participants will further perform the SCA Functional Composite (SCA-FC) which is a comprehensive measure of functional capacity based on results in quantitative tests related to gait (8m timed walk), speech (PATA rate) and hand function (9 hole pegboard). In a subset of study participants, we will record eye movements and obtain volumetric MRIs. The study will also be used to collect and store blood and urine samples for proteomic and gene expression studies.

RISCA is conducted by the Ataxia Study Group (ASG). It relies on the network structure created by the EUROSCA project.


Condition
Spinocerebellar Ataxias

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Prospective Study of Individuals at Risk for Spinocerebellar Ataxia Type 1, Type 2, Type 3, Type 6 and Type 7 (SCA1, SCA2, SCA3, SCA6, SCA7)

Resource links provided by NLM:


Further study details as provided by Institut National de la Santé Et de la Recherche Médicale, France:

Estimated Enrollment: 60
Study Start Date: May 2009
Groups/Cohorts
presymptomatic carriers
non carrier relatives

  Eligibility

Ages Eligible for Study:   18 Years to 70 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

French population

Criteria

Inclusion Criteria:

  • individuals at risk for spinocerebellar ataxia type 1, type 2, type 3, type 6 and type 7 (SCA1, SCA2, SCA3, SCA6 and SCA7)
  • age between 18 and 50 years old for SCA1, SCA2, SCA3 or SCA7
  • age between 35 and 70 years old for SCA6
  • no clinical sign of ataxia (SARA < 3)

Exclusion Criteria:

  • no writing consent
  • no family members affected
  • presence of clinical sign of ataxia (SARA > 3)
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01037777

Locations
France
Pitié Salpêtrière Hospital
Paris, France, 75013
Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
  More Information

No publications provided by Institut National de la Santé Et de la Recherche Médicale, France

Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier: NCT01037777     History of Changes
Other Study ID Numbers: C08-37
Study First Received: December 21, 2009
Last Updated: January 27, 2012
Health Authority: France: Direction Générale de la Santé

Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
individuals at risk for SCA1, SCA2, SCA3, SCA6 and SCA7

Additional relevant MeSH terms:
Ataxia
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Cerebellar Ataxia
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on September 14, 2014