FARA to FA Patients: Consider Enrolling in 3 Clinical Trials

People with Friedreich’s ataxia (FA) are encouraged to enroll in three clinical trials evaluating the effects of dietary supplements on exercise, the safety and efficacy of the experimental therapy vatiquinone, and the utility of wearing sensors to monitor the disease’s progression and severity.

The Friedreich’s Ataxia Research Alliance (FARA) listed the enrollment efforts for these studies, among other updates, in its monthly newsletter.

“The enrolling clinical studies and trials are only possible through the collaborative efforts of clinicians, pharma, and FA families,” Jen Farmer, FARA’s CEO, said in her newsletter message.

“Though the individuals in these groups are largely unknown to one another, they each need to fulfill their role of investigator, sponsor, or trial participant in order to successfully advance research,” Farmer wrote.

The newsletter notes that the Children’s Hospital of Philadelphia and the Hospital of the University of Pennsylvania are seeking up to 14 more participants, ages 10 to 40, for a study (NCT04192136) evaluating the effect of the dietary supplement nicotinamide riboside, called NR, and exercise on volunteers’ aerobic capacity.

The body converts NR into nicotinamide adenine dinucleotide (NAD+) within muscles. NAD+ is a key factor for the generation of energy, whose production is impaired in FA.

Preclinical studies in animals lacking frataxin — the missing protein in FA patients — in their skeletal and cardiac muscles showed that NAD+ precursors such as NR returned the animals’ cardiac function to near-normal levels. This suggests that an NR dietary supplement may help increase muscle mass during exercise, improving oxygen metabolism and energy production.

Participants will be randomly assigned into one of four groups: a group receiving NR only, one receiving a placebo only, one receiving exercise training with NR, and a fourth that will receive exercise training with a placebo.

The study’s main goal is to assess the change in participants’ aerobic capacity, as measured by VO2 max — the maximum amount of oxygen the body can consume during a period of increasing exercise. The study’s secondary goal is to assess changes in whole-body insulin sensitivity.

Enrollment information can be found here. The study, started in the fall of 2020, is expected to continue through December 2024.

Another trial seeking participants is the Phase 2/3 MOVE-FA study (NCT04577352), which is testing the safety and efficacy of vatiquinone (PTC743) in children and young adults with FA.

Launched late last year, the trial is recruiting at sites in the U.S., Canada, Australia, and Germany. Additional study sites are expected to open soon in Brazil, Italy, and Spain.

Vatiquinone is a compound that’s designed to limit neuroinflammation and nerve cell death by blocking the activity of an enzyme that helps to regulate oxidative stress within cells. Oxidative stress results from an imbalance between the production of free radicals (reactive oxygen species) and the body’s ability to eliminate them.

MOVE-FA will evaluate vatiquinone’s safety and effectiveness in approximately 126 FA patients ages 7 and older, who can walk at least 10 feet in one minute with or without assistance, and can swallow capsules.

The children and adults in this study will be randomly selected to receive either vatiquinone or a placebo three times daily for 72 weeks, or nearly 1.5 years.

The trial mainly aims to track changes in the patients’ scores on the Modified Friedreich Ataxia Rating Scale (mFARS), a measure of disease severity. Secondary measures include changes in the ability to perform activities of daily living, functional status, and the number of falls.

Upon completing the treatment period, participants will have the option of continuing in a long-term open-label extension study in which all will receive vatiquinone for 24 weeks (about six months).

Finally, the IDEA study (NCT04268147) is seeking applicants to test body-worn sensors that measure coordination. The goal is to assess the severity and progression of ataxia, or abnormal, uncoordinated movements.

Up to 144 people with FA or spinocerebellar ataxia are being recruited for this study, which is sponsored by the University of Chicago, in collaboration with Pfizer, Biogen, and APDM Wearable Technologies.

Eligible participants should be able to walk 10 feet independently without an assistive device. The study seeks FA patients ages 12–30, who were diagnosed between the ages of 5 and 25.

Investigators hope to close the study soon and participant recruitment is ongoing at all clinical trial sites in Baltimore, Boston, Chicago, Los Angeles, and Portland, Oregon.

The main goal is to measure how accurately the worn devices measure ataxia progression and severity, as evaluated by a physician. Measurements include the Scale for the Assessment and Rating of Ataxia, mFARS, several questionnaires, the timed 25-foot walk, and all data collected through an ataxia app. 

Participants will be compensated for travel expenses and for an Apple watch.

In the newsletter, Farmer noted that FARA and its collaborators had raised more than $100,000 for research, which funds clinical trials like these.

“The updates in this month’s newsletter reflect FARA’s core value of collaboration,” she wrote.