Clinical Trials

Researchers at Vanderbilt University Medical Center are recruiting participants (male and female, children ages 7-17 years) with Friedreich’s Ataxia (FA) for a study to determine if there is a relationship between blood sugar abnormalities (risk of diabetes) and cardiac changes.

If your child is selected to participate in this study, your child may complete:

• blood testing
• oral glucose tolerance testing (with a non-FDA approved stable isotope product)
• placement of a continuous glucose monitor
• echocardiogram (ultrasound of the heart)
• dual-energy X-Ray absorptiometry (DXA, x-ray scan)

https://clinicaltrials.gov/ct2/show/NCT05168774

The Children’s Hospital of Philadelphia (CHOP) is recruiting patients with Friedreich ataxia (FRDA) in the United States for a Phase 1/2 clinical trial studying the safety and effects of Elamipretide in the treatment of advanced stage FRDA symptoms, specifically vision loss and cardiac disease in both adults and older children.

This study will include up to 18 patients to be enrolled at the Children’s Hospital of Philadelphia.

Eligibility criteria include:

Inclusion:

• Be 16 years of age or older
• Have genetic confirmation of your FRDA (point mutations allowed)
• Have been diagnosed with FRDA at age 18 years old or younger
• Have vision loss and/or cardiac disease
• Be willing to administer a daily injection (shot)
• Not be actively enrolled in any clinical trial

• Have any clinically relevant medical or surgical condition that could interfere with the administration of study drug, or compromise your safety or well-being
• Be pregnant, planning a pregnancy, or breastfeeding
• Have a history of substance abuse
• Have any other active cause of optic neuropathy or cardiac disease outside of FRDA
• Have a history of an uncontrolled arrhythmia

• Complete a phone pre-screening questionnaire to review eligibility criteria
• Receive a study drug (Elamipretide) as a daily shot (injection)
• Perform various vision testing
• Undergo heart function evaluations
• Have research blood tests at each study visit
• Complete questionnaires and speech testing
• Keep a subject dosing diary

Research clinicians at the Children’s Hospital of Philadelphia (CHOP) are enrolling 10 participants in a study to evaluate safety, tolerability, and effects on cardiac and skeletal muscle bioenergetics of compound MIB-626, which is an NAD+ precursor. This Phase 2 study will be enrolling 10 participants and is open label, meaning that all participants will be taking the compound.

NAD+, or nicotinamide adenine dinucleotide, has two general functions in the human body: helping to generate energy in mitochondria and working as a helper molecule for proteins that regulate other cellular functions.

The study investigators plan to complete enrollment by April 10, 2022.

Eligibility criteria include:

Inclusion:
-  Genetically confirmed diagnosis of FA
-  Age 18-64 years old

Exclusion:
-  Concurrent use of Vit B3 supplements
-  Cardiac ejection fraction less than 40%
-  Contraindication to MRI (e.g., spinal rods)
-  Involvement in another investigational drug study (must be >4 weeks out from another trial)

Participation is this study involves completion of two (2) in-person clinic visits, at the beginning and end of the 14-day study. At the clinic visits, you will be asked to complete blood testing and MRI scans.

If you are interested in learning more about this study, please contact Anna DeDio at Children’s Hospital of Philadelphia through email dedioa@email.chop.edu or by phone (267)-425-1998.

TRACK-FA is a natural history study to investigate brain and spinal cord changes in individuals with Friedreich ataxia. If imaging differences in the central nervous system are correlated with progression of FA, these differences could be used in future clinical trials to monitor treatment outcome.

• Neurologic and functional testing
• Blood draw
• Brain and spinal cord MRI scan

• Age >5 years with genetically confirmed diagnosis of FA.
• GAA repeat expansion >55 in length on both alleles of the FXN gene or GAA repeat expansion on one allele and another mutation type on the other allele (e.g., point mutation, gene deletion).
• Age of disease onset less than 25 years.
• Disease duration less than 25 years.
• Able to read and converse in English.

• MRI contraindications such as pacemaker, other metallic surgical implants, metallic braces.
• Pregnancy
• Other ongoing medical conditions, including psychiatric and neurological diagnoses (speak with the site investigator).