International Ataxia Rating Scale in Younger Patients

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.

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Key information

Conditions

Ataxia Telangiectasia Ataxia Brain Diseases Cardiovascular Diseases Central Nervous System Diseases Cerebellar Ataxia Cerebellar Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Dyskinesias Genetic Diseases, Inborn Immune System Diseases Immunologic Deficiency Syndromes Metabolic Diseases Nervous System Diseases Neurocutaneous Syndromes Neurologic Manifestations Nutritional and Metabolic Diseases Primary Immunodeficiency Diseases Spinocerebellar Ataxias Telangiectasis Vascular Diseases

Age range

6 year–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Jaslok Hospital, Mumbai, India

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

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.
Children aged 6-18 years with suspected AT (fulfilling partially the above criteria will be included)
Children aged 6-18 years with AT like disease, with or without proven mutation in the MRE11 gene will be included
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

Treatment and study plan

Primary outcomes

Correlation Analysis

Time frame: 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).

Sponsors and collaborators

Lead sponsor

Quince Therapeutics S.p.A.

Industry

Registry information

Official study title

APPLICABILITY OF THE INTERNATIONAL ATAXIA RATING SCALE (ICARS) IN YOUNGER PATIENTS AND DEVELOPMENT OF GLOBAL RATING INSTRUMENTS FOR PATIENTS WITH ATAXIA TELANGIECTASIA (AT)

Important dates

Study start: 2013
Primary completion: 2014
Study completion: 2014
First posted: Sep 16, 2013
Registry last updated: Dec 31, 2014

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.

Published trials that share one or more normalized conditions with this study.

Completed