International Ataxia Rating Scale in Younger Patients

NCT01942850 | Completed

• 1 other identifier: ICARS-CGI-Ery01-2013
• Study Type: observational
• Target: 63
• Locations: 4 countries
• Sites: 5

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.

Conditions

Ataxia Telangiectasia

Outcome Measures

Primary Outcomes (1)

• Correlation Analysis

  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).

  single visit

Study Arms (1)

No Treatment

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.

Eligibility Criteria

• Age: 6 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Known patients with ataxia/ataxia telangiectasia

You may qualify if:

• 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

Sponsors & Collaborators

• Quince Therapeutics S.p.A.: lead

Study Sites (5)

Carol Morsani USF Health Center

Tampa, Florida, United States

Location

Jaslok Hospital

Mumbai, India

Location

Edmond and Lilly Safra Childrens Hospital Pediatric Unit

Tel Litwinsky, Israel

Location

Università La Sapienza

Roma, Italy, 00100, Italy

Location

A.O Spedalli Civilli Brescia

Brescia, Italy

Location

MeSH Terms

Conditions

Ataxia Telangiectasia

Condition Hierarchy (Ancestors)

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

Study Officials

• Luca Benatti, MD

  Quince Therapeutics S.p.A.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 6, 2013
• First Posted: September 16, 2013
• Study Start: August 1, 2013
• Primary Completion: May 1, 2014
• Study Completion: May 1, 2014
• Last Updated: December 31, 2014

Record last verified: 2014-12

Locations

IN (1); IT (2); IL (1); US (1)