FACOMS: Friedreich’s Ataxia Clinical Outcome Measures Study

Brief Summary

The Collaborative Clinical Research Network in Friedreich's Ataxia (CCRN in FA) is an international network of clinical research centers. Through this network, physicians, researchers and patients work together to advance treatments and best practices for management and treatment of FA, a neurological disorder. St. Jude is one of the sites in this network. The CCRN in FA is funded by the Friedreich’s Ataxia Research Alliance. The research centers involved in this network run a study called Clinical Outcome Measures in Friedreich’s Ataxia (FACOMS).

Objectives

This is a natural history study with the following objectives:

• Collect data every year to understand progression of FA and be able to quantify change in progression over time
• Develop and validate outcome measures (timed walk tests, vision tests) that can be used in future clinical trials
• Expand the network of clinical research centers working on Friedreich’s ataxia
• Make design and implementation of clinical trials more efficient and effective
• Collect biological samples such as cheek swabs and blood to identify and study biomarkers involved with the disease process and quantify the change in these markers over time

Eligibility criteria

Inclusion criteria include:

• Patients with Friedreich’s Ataxia
• Birth to 22 years
• Parental permission and, if appropriate, child assent

Study Sites

St. Jude Children’s Research Hospital, Memphis, Tennessee
Collaborating sites globally

About this study

This is a long-term study to help scientists learn more about Friedreich’s ataxia (FA). Friedreich’s ataxia is a rare neurological disorder that affects movement. This study follows people living with FA over time and tracks different aspects of the disease.

This study takes place in many locations, and some of those treat adults. St. Jude focuses on children and young adults. If you choose to enroll in FACOMS, you are seen once a year at St. Jude. At this visit you complete various physical exams and testing. You may also donate tissue samples like blood and a cheek swab for research testing.

The purpose of the study is to gather data on those with Friedreich’s ataxia and create a clinical research network. This study also seeks to develop tests, such as timed walking tests and vision tests, that could be used in future clinical trials for this disorder.

Purpose of this clinical trial

This long-term study aims to better understand how Friedreich’s ataxia progresses. It also will develop tests that can be used in other clinical trials to measure changes in the disease over time.

Eligibility overview

• Patients with Friedreich’s ataxia
• Birth to 22 years
• Parental permission and, if appropriate, child assent