Clinical Trials

Title of Study: The Friedreich's Ataxia Health Index Study

Principal Investigator: Chad Heatwole, MD, MS-CI

Institutional Affiliation: University of Rochester, Department of Neurology

Study Description: This study aims to identify the symptoms that have the greatest impact on quality-of-life for individuals with FA. The results of the study will help guide future research involving FA patients through the development of a patient-reported measure of health.

The study involves completing a survey to include questions on demographics and symptoms of FA.

WHO CAN PARTICIPATE?

• U.S. residents
• Participants with a confirmed diagnosis of FA
• Adults, ages 18 or older
• Children, ages 8-17, with parental consent; if the child is age 13-17, only the child should complete the survey
• Parents of children age 0-12; both parent and child can complete the survey for children ages 8-12.

Please see this Recruitment flyer to access the survey links.
 

Participants are needed for a Phase I research study to test an investigational medication in individuals with Friedreich's ataxia.

You May Be Eligible if You:

• are 18 years of age or older,
• have genetically confirmed Friedreich’s Ataxia with a copy of the genetic result (homozygous GAA repeat expansions), and
• are able to go the distance of 25 feet with or without an assistive device or pushing oneself using a manual wheelchair.

Individuals should also be able to transfer from a bed to a chair with minimal assistance (e.g., being able to stand with support during a transfer) and perform basic daily care, such as feeding themselves and personal hygiene, with minimal assistance.

Please see this Recruitment Flyer for other Key Inclusion Criteria and contact information.

More information can also be found at Clinicaltrials.gov https://clinicaltrials.gov/ct2/show/NCT04176991.

The Retrotope RT001-006 trial involves the study drug RT001, which may protect against lipid peroxidation, the process that is believed to cause disability in many neurodegenerative diseases, including Friedreich’s ataxia.

This study will involve five visits to a research clinic over a 12-month period. Each site visit can be done over multiple days. If you should decide to participate, you will be reimbursed for reasonable travel expenses.

To qualify, you must:

• Have been diagnosed with Friedreich's ataxia
• Be between 12 and 50 years old
• Be able to walk at least 25-feet within 1 minute, with or without an assistive device
• Not be actively enrolled in another clinical trial
• Not have participated in the previous RT001 trial

 
For enrollment at Children's Hospital of Philadelphia only -
Please see this flyer to contact the study coordinator at CHOP.

For enrollment at our Long Beach, CA site -
Please see this flyer to contact the study coordinator.

For enrollment at our UCLA site -
Please see this flyer to contact the study coordinator.

For enrollment at other sites -
Please see this flyer to contact the study coordinator.

Volunteers, ages 6‐40 needed for Research Study

• Brief neurological exam
• Sensory testing
• Photograph a small area of your hand & foot, using a microscope that can look into the skin
• Skin biopsy – optional for some subjects