Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
Quince Therapeutics S.p.A.
Age
6–18
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
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
Clareo Health | International Ataxia Rating Scale in Younger Patients