Ataxia Telangiectasia
Conditions
Brief summary
The project will collect information on the mapping of clinical ratings on a number of scales that are used in the assessment of patients with ataxias.
Interventions
None listed
Sponsors
Quince Therapeutics S.p.A.
Study design
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to 18 Years
Healthy volunteers
No
Inclusion criteria
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Correlation Analysis | single visit | The primary outcome is validity of ICARS in children younger than 10 years of age (by comparing the mean scores and subscores between children aged 6-10 years of age to those aged 10-18 years of age). |
Countries
India, Israel, Italy, United States
Outcome results
None listed