Key Interventions in Friedreich’s Ataxia and Their Impact on Patient Outcomes: A Systematic Review

AI Summary

Omaveloxolone, rehabilitation, and cardiac interventions demonstrated the greatest effectiveness among studied treatments for Friedreich's ataxia.
Pharmacological trials often showed biomarker or biological improvements without consistent clinical or patient-reported benefit.
Evidence gaps include mental health, caregiver burden, economic outcomes; larger holistic studies with combined interventions and patient and caregiver reported outcomes are needed.

AI Summary

This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient-centered care domains, as well as their impact on these domains.

Studies were included if they met predefined eligibility criteria (FA population/pharmacological or nonpharmacological interventions/use of comparator/any outcomes, especially patient reported).

Pharmacological interventions (66.7%), mainly disease modifying (93.5%), were more common than nonpharmacological interventions, with the most effective interventions being omaveloxolone (pharmacological), as well as rehabilitation and heart interventions (nonpharmacological).

Basic summary

Mov Disord. 2026 Jul 6. doi: 10.1002/mds.70423. Online ahead of print.

ABSTRACT

Friedreich’s ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient-centered care domains, as well as their impact on these domains. The publication search was conducted in three databases (PubMed, Embase, Cochrane Library) from 2010 to 2025 for human studies. Studies were included if they met predefined eligibility criteria (FA population/pharmacological or nonpharmacological interventions/use of comparator/any outcomes, especially patient reported). All study designs were included. Risk of bias assessment was performed by two reviewers using Cochrane RoB-2 for randomized controlled trials and JBI Critical Appraisal Tools for case reports, case series, and quasi-experimental studies. Results were synthesized narratively. Ninety studies (69 FA only, 21 mixed ataxia) were included. FA-only studies included randomized controlled trials (32%), quasi-experimental studies (35%), and case reports (33%), mostly with small samples (<100) and low-to-moderate bias. Pharmacological interventions (66.7%), mainly disease modifying (93.5%), were more common than nonpharmacological interventions, with the most effective interventions being omaveloxolone (pharmacological), as well as rehabilitation and heart interventions (nonpharmacological). Pharmacological studies often showed biological improvements without clear clinical benefit, whereas nonpharmacological therapies yielded more consistent patient-relevant gains, although evidence was limited. Physical health was the most frequently addressed domain (42.3%), whereas mental health and caregiver aspects were rarely studied (1.8% and 1.4%). No study investigated caregiver burden or economic outcomes. More holistic studies are needed, integrating patient- and caregiver-reported outcomes and combining multiple treatment approaches in larger cohorts. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

PMID:42410955 | DOI:10.1002/mds.70423

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