Summary

for people ages 4-80 (full criteria)
healthy people welcome
at UCLA
study started
estimated completion:
Susan Perlman (ucla)

Description

Summary

This multicenter natural history study aims to expand the network of clinical research centers in FA, and to provide a framework for facilitating therapeutic interventions. In addition, this study will lead to the development of valid yet sensitive clinical measures crucial to outcome assessment of patients with Friedreich's Ataxia. This study will support genetic modifier studies, biomarker studies, and frataxin protein level assessments by building a sample repository.

Official Title

Clinical Outcome Measures in Friedreich's Ataxia

Details

Friedreich's ataxia (FA) is a rare autosomal recessive degenerative disorder characterized by ataxia, dysarthria, sensory loss, diabetes and cardiomyopathy. The discovery of the abnormal gene in FA and its product (frataxin) has provided insight into possible pathophysiological mechanisms and novel approaches to treatments in this disease. While such methods for assessing disease progression may be useful, evaluation in clinical trials will require specific clinical outcome measures.

This is a multicenter natural history study which aims to expand the network of clinical research centers specializing in Friedreich's Ataxia and to advance clinical care, research and therapeutic approaches in FA through the development and validation of clinical outcome measures. Study sites aim to collect quantitative serial clinical data on patients with FA and expand the existing research network. In addition, the study will support various genetic modifier studies, biomarker studies, and frataxin protein level assessments in patients with FA, in carriers, and in controls.

This study will recruit up to 1500 patients with Friedreich ataxia worldwide, to be assessed annually for up to 15 years. All individuals with a genetic or clinical diagnosis of FA can participate.

Study participation involves yearly assessments of a core set of clinical measures and quality of life assessment measures in addition to optional collection of a cheek swab and/or blood sample.

Keywords

Friedreich Ataxia Neuro-Degenerative Disease Ataxia Cerebellar Ataxia Neurodegenerative Diseases

Eligibility

You can join if…

Open to people ages 4-80

  1. Males or females age 4 to 80 years.
  2. Genetically confirmed diagnosis of FA (for carrier/control cheek swab and blood samples this is not required).
  3. Clinically confirmed diagnosis of FA, pending confirmatory genetic testing through a commercial or research laboratory (for carrier/control cheek swab and blood samples this is not required).
  4. Parental/guardian permission (informed consent) and if appropriate, child assent.

You CAN'T join if...

1) Signs or symptoms of severe cardiomyopathy (such as congestive heart failure)

Locations

  • UCLA Ataxia Center accepting new patients
    Los Angeles California 90095 United States
  • University of Iowa, Stead Family Children's Hospital accepting new patients
    Iowa City Iowa 52242 United States

Lead Scientist

  • Susan Perlman (ucla)
    Professor, Neurology. Authored (or co-authored) 89 research publications

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Children's Hospital of Philadelphia
ID
NCT03090789
Study Type
Observational [Patient Registry]
Last Updated