Validation of International Cooperative Ataxia Rating Assesment Scale in younger age group of patients with ataxia and to develop a rating scale for patients with Ataxia Telangiectasia
- Conditions
- Health Condition 1: null- Ataxia (including Ataxia Telangiectasia)
- Registration Number
- CTRI/2013/10/004088
- Lead Sponsor
- Erydel SPA
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Open to Recruitment
- Sex
- Not specified
- Target Recruitment
- 80
1.Patients aged 6-18 years with diagnosed with ataxia, preferably AT will be included. The diagnosis of AT will be made based on the criteria: typical clinical picture plus one of the following: 1. a proven mutation in the ATM gene 2. Deficient ATM protein proven by Western blotting 3. Elevated α-fetoprotein, cerebellar atrophy on MRI and immune deficiency/ chromosomal breakage/ T- cell lymphoreticular malignancy.
2.Children aged 6-18 years with suspected AT (fulfilling partially the above criteria will be included)
3.Children aged 6-18 years with AT like disease, with or without proven mutation in the MRE11 gene will be included
4.Children aged 6-18 years of age with ataxia of other known or unknown etiologies might be included, but their total number should not exceed 20% of the cohort in each site
None
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Validity & reliability of ICARS in young age group of Ataxia & Ataxia Telangiectasia patientsTimepoint: None
- Secondary Outcome Measures
Name Time Method 1. Total scores comparison in the ages 6-10 and 10-18 years. <br/ ><br>2. Correlation of ICARS scores with Clinical Global Impression of Severity (CGI-S) of the disease. <br/ ><br>3. The Scale for the Assessment and Rating of Ataxia (SARA) by Clinical Global Impression of Severity (CGI-S) <br/ ><br>4. The Brief Ataxia Rating Scale (BARS) by Clinical Global Impression of Severity (CGI-S)Timepoint: None