International Ataxia Rating Scale in Younger Patients

Quince Therapeutics S.p.A.

Status: Completed

Conditions: Ataxia Telangiectasia

Study type: Observational

Funder types: Industry

Identifiers

NCT01942850

ICARS-CGI-Ery01-2013

Details and patient eligibility

About

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.

Enrollment: 63 patients

Sex: All

Ages: 6 to 18 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

63 participants in 1 patient group

No Treatment

Description:

Collect pilot data on the performance of the ICARS in patients younger than 10 years of age, as well as to introduce definitions for the various clinically defined stages of AT, and attempt to develop descriptors of change that could help in the assessment of patients longitudinally.