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Completed

NCT Number: NCT01037777

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

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.

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Key information

Conditions

Spinocerebellar Ataxias Ataxia Brain Diseases Central Nervous System Diseases Cerebellar Ataxia Cerebellar Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyskinesias Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Nervous System Diseases Neurodegenerative Diseases Neurologic Manifestations Spinal Cord Diseases Spinocerebellar Degenerations

Age range

18 year–70 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Pitié Salpêtrière Hospital

Paris, 75013, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Primary outcomes

  1. Determination of the incidence rate of ataxia onset among mutation carriers

    Time frame: Day 0

    Blood sample for a genetic test. Identification of individuals carrying a mutation for SCA types 1, 2, 3, 6, and 7

  2. Confidence Rating for Ataxia Assessment

    Time frame: Day 0, Month 24, Month 48, Month 72

    The invetigator must specify the degree of confidence in the presence of specific signs that may be associated with SCA ataxia . 90-100 % : investigator very confident in the diagnosis of ataxia, 70-89 % : high confidence, but with some uncertainty, 50-69 % : moderate confidence, <50 % : significant uncertainty.

  3. INAS scoring in ataxia (Inventory of Non-Ataxia Signs)

    Time frame: Day 0, Month 24, Month 48, Month 72

    Score range 0-16. 0 : No nonataxia signsdetected. Higher score : more non-ataxia neurological signs are present

  4. Assessmet of sleep quality in ataxia : PSQI (Pittsburg Sleep Quality Index)

    Time frame: Day 0, Month 24, Month 48, Month 72

    The global PSQI score ranges from 0 to 21. 0-5 : good sleep quality. >5 : Poor sleep quality / clinically significant slep disturbance. Higher scores : worse sleep quality

  5. Restless Legs Syndrome (RLS) assessment in Ataxia

    Time frame: Day 0, Month 24, Month 48, Month 72

    Total Score : 0-40 0 : No RLS symptoms, 1-10 : Mild, 11-20 : Moderate, 21-30 : Severe, 31-40 : Very severe.

  6. Assessment of depression by Patient's Health Questionnaire PHQ-9

    Time frame: Day 0, Month 24, Month 48, Month 72

    Used to evaluatethe severity of depressive symptoms, giving a total score rangong from 0 to 27. 0-4 : minimal or no deprssive symptoms, 5-9 : mild depression, 10-14 : moderate depression, 15-19 : moderately severe depression, 20-27 : severe depression

  7. Assessment of the disease's impact on quality of life based on EQ-5D index (EuroQoL-5 Dimensions)

    Time frame: Day 0, Month 24, Month 48, Month 72

    It generally ranges from less than 0 to 1 (perfect health). Higher scores indicate a better quality of life

  8. Assessment and Rating of Ataxia

    Time frame: Day 0, Month 24, Month 48, Month 72

    SARA (Scale of Assessment and Rating Ataxia) is an 8-item performance based scale, yielding a total score of 0 (no ataxia) to 40 (most severe ataxia).

  9. Functional assessment of the severity of ataxia

    Time frame: Day 0, Month 24, Month 48, Month 72

    Using CCFS (Composite Cerebellar Functional Severity Score) method for assessing cerebellar ataxia across a wide range of severity. =0,85 : average value in an individual without ataxia. 0,90-1,00 : very mild or early-stage cerebellar impairment. 1,00-1,20 : Mild to moderate cerebellar impairment. >1,2 : More pronounced cerebellar impairment.

  10. Upper Limb motor coordination assessment

    Time frame: Day 0, Month 24, Month 48, Month 72

    A device equipped with a pre-calibrated force sensor that measures grip strength and lifting capacity, and a Polhemus 3D position sensor that measures position along the -x, -y, and -z axes and the object's orientation to assess movement. Grip force variability coefficient is calculated : Lowe % (more stable greap force control) - Higher % (greater variability and poorer motor coordination)

  11. Finger tapping assessment

    Time frame: Day 0, Month 24, Month 48, Month 72

    Number of taps within 10 seconds (higher = better)

  12. GAITRite in an ataxia assessment

    Time frame: Day 0, Month 24, Month 48, Month 72

    The participant walks along a carpet equipped with sensors that record the time it takes to make a step as well as the position of the feet.

Secondary outcomes

  1. Functional performance assessment by 8MW test (8 meters walking time)

    Time frame: Day 0, Month 24, Month 48, Month 72

    Measure in seconds, the time needed to cover a distance of 8 meters as quickly and safely as possible

  2. Functional performance assessment by 9HPT : Nine Hole Peg Test

    Time frame: Day 0, Month 24, Month 48, Month 72

    The test consists of insertingand removing 9 wooden pegs from a board as quickly as possible, using only one hand. A healthy adult completes the test in about 10 to 20 seconds.

  3. Functional performance assessment by by PATA

    Time frame: Day 0, Month 24, Month 48, Month 72

    It involves counting the number of clear répétitions of the syllable or sentence " pa-ta " that a patient can produce in 10 seconds

  4. Assessment of retinal thickness

    Time frame: Day 0, Month 24, Month 48, Month 72

    By using Optical Coherence Tomography (OCT) scan

  5. Identification of slow saccades during eye tracking

    Time frame: Day 0, Month 24, Month 48, Month 72

    By recording of eye movements

  6. Evaluation of the functional connectivity

    Time frame: Day 0, Month 72

    Brain imaging will help determine whether functional connectivity between the cortex and the cerebellum is impaired

Sponsors and collaborators

Lead sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Other Gov

Registry information

Official study 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)

Acronym: RISCA

Important dates

Study start
2009
Primary completion
2017
Study completion
2017
First posted
Dec 23, 2009
Registry last updated
Aug 19, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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