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NCT Number: NCT03090789

FA Clinical Outcome Measures

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.

This natural history study is no longer recruiting under this protocol NCT03090789 but remains actively recruiting under the harmonized study (UNIFAI) NCT06016946.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Friedreich Ataxia Brain Diseases Central Nervous System Diseases Cerebellar Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Metabolic Diseases Mitochondrial Diseases Nervous System Diseases Neuro-Degenerative Disease Neurodegenerative Diseases Nutritional and Metabolic Diseases Spinal Cord Diseases Spinocerebellar Degenerations

Age range

4 year–80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Murdoch Childrens Research Institute, Parkville, Victoria, Australia

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About this study

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 2000 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.

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

  • Males or females age 4 to 80 years.
  • Genetically confirmed diagnosis of FA (for carrier/control cheek swab and blood samples this is not required).
  • 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).
  • Parental/guardian permission (informed consent) and if appropriate, child assent.

Exclusion criteria

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

Treatment and study plan

Primary outcomes

  1. Friedreich Ataxia Rating Scale

    Time frame: once every 1 year

    rating scale based on clinical neurologic examination

Secondary outcomes

  1. 9-hole peg test

    Time frame: once every 1 year

    timed test of fine motor skills performed as a set of four trials (two trials per hand), for patients with FA who are able to complete this testing

  2. timed 25 foot walk

    Time frame: once every 1 year

    timed 25 foot walk is performed twice for patients with FA who are able to complete this testing. Assistive devices such as canes, service dogs, walkers, or crutches are permitted.

  3. Vision assessment

    Time frame: once every 1 year

    High and low contrast visual acuity tested on patients with FA who are able to perform this test. Glasses or contact lenses are permitted.

  4. Quality of Life Questionnaires

    Time frame: once every 1 year

    a set of quality of life questionnaires is administered for study participants with Friedreich ataxia. Questionnaires include items such as activities of daily living, overall opinion on health and function, and fatigue-related questions.

Other outcomes

  1. Optional sample collection

    Time frame: once every 1 year

    study participants will be asked to provide a cheek swab and/or blood sample for a variety of different measures including frataxin protein level assessments or other biomarker tests

Sponsors and collaborators

Lead sponsor

Friedreich's Ataxia Research Alliance

Other

Collaborators

  • Children's Hospital of Philadelphia
  • University of Rochester

Registry information

Official study title

Clinical Outcome Measures in Friedreich's Ataxia

Acronym: FA-COMS

Important dates

Study start
2001
Primary completion
2030
Study completion
2030
First posted
Mar 27, 2017
Registry last updated
Oct 4, 2024

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.

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