Objective: The presented systematic review summarizes available pharmacological and non‑pharmacological interventions for patients with Friedreich’s ataxia, their outcomes, and alignment with patient‑centered health domains as well as their impact on these domains.

Background: Friedreich’s ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms (e.g. ataxia, dysarthria, sensory loss, muscle weakness, cardiomyopathy, diabetes mellitus, scoliosis, pes cavus) that requires multidisciplinary care.

Method: The literature search was conducted in three databases (PubMed, Embase, and Cochrane Library) for human studies published between 2010 and 2025. Studies which met the predefined eligibility criteria were included [FA patients/pharmacological or non-pharmacological intervention/comparator/any outcomes, particularly patient-reported]. All study designs with the intervention were eligible. Risk of bias was assessed independently by two reviewers using the Cochrane Risk of Bias 2 tool for randomized controlled trials (RCTs) and relevant JBI Critical Appraisal Tools for other study designs. Results were synthesized narratively.

Results: Ninety studies (69 FA-only, 21 mixed ataxia) were included. FA-only studies comprised RCTs (32%), quasi-experimental studies (35%), and case reports (33%), mostly small (<100 participants) with low to moderate bias. Pharmacological interventions (66.7%) predominated and were largely disease-modifying (93.5%). The most effective interventions were omaveloxolone (pharmacological) and rehabilitation and heart interventions (non-pharmacological). Pharmacological studies often demonstrated biological improvements without clear clinical benefit, whereas non-pharmacological therapies yielded more consistent patient-relevant effects addressing the symptoms, though evidence was limited. Physical health was the most studied domain (42.3%), while mental health and caregiver outcomes were rarely addressed (1.8% and 1.4%), with no studies on caregiver burden or economic impact.

Conclusion: More interventional studies, with a wide variety of outcome measures, a multidisciplinary approach and involvement of patients and their caregivers are needed, which can lead to translation of the research into effective therapies for FA patients to improve all the health domains.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/interventions-in-friedreichs-ataxia-and-their-influence-on-patient-centric-outcomes-a-systematic-review/