ReviewOrphanet journal of rare diseases2014
Consensus clinical management guidelines for Friedreich ataxia.
Review in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 120 citations in OpenAlex.
- Treatment for dysphagia (swallowing difficulties) in hereditary ataxia.The Cochrane database of systematic reviews · 2015Pooled it
- Serial assessment of echocardiographic measures in Friedreich ataxia.American heart journal plus : cardiology research and practice · 2026Article
- Ataxia patient care pathway and associated healthcare costs in Italy: a cross-sectional survey.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Assessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak cough flow.Journal of neuromuscular diseases · 2026Article
- Slowing the curve: a single-arm meta-analysis of mFARS outcomes following omaveloxolone treatment in Friedreich ataxia.BMJ neurology open · 2026Review
- Early onset development of hypertrophic cardiomyopathy in less than 1 year in a patient with familial Friedrich's ataxia: Case report.Radiology case reports · 2025Article
- All hands on deck: The multidisciplinary rehabilitation assessment and management of hand function in persons with neuromuscular disorders.Muscle & nerve · 2025Review
- Article
- Muscle Endurance Training in a Person with Friedreich's Ataxia.Muscles (Basel, Switzerland) · 2025Article
- Case Report: Complex cardiac arrhythmia management in the ICU for an adolescent with Friedreich ataxia.Frontiers in pediatrics · 2025Article
- Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review.Frontiers in neurology · 2025Review
- Drug Treatments for Neurodevelopmental Disorders: Targeting Signaling Pathways and Homeostasis.Current neurology and neuroscience reports · 2024Review
- Article
- Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal muscle.Experimental physiology · 2024Review
- Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.Annals of clinical and translational neurology · 2024Article
- Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?BMC medical genomics · 2023Article
- Patient pathways for rare diseases in Europe: ataxia as an example.Orphanet journal of rare diseases · 2023Article
- Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.Orphanet journal of rare diseases · 2022Article
- Friedreich ataxia: clinical features and new developments.Neurodegenerative disease management · 2022Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Friedreich ataxia (FRDA), a multisystem autosomal recessive condition, is the most common inherited ataxia in Caucasians, affecting approximately 1 in 29,000 individuals. The hallmark clinical features of FRDA include progressive afferent and cerebellar ataxia, dysarthria, impaired vibration sense and proprioception, absent tendon reflexes in lower limbs, pyramidal weakness, scoliosis, foot deformity and cardiomyopathy. Despite significant progress in the search for disease modifying agents, the chronic progressive nature of FRDA continues to have a profound impact on the health and well-being of people with FRDA. At present there is no proven treatment that can slow the progression or eventual outcome of this life-shortening condition. Thirty-nine expert clinicians located in Europe, Australia, Canada and USA critically appraised the published evidence related to FRDA clinical care and provided this evidence in a concise manner. Where no published data specific to FRDA existed, recommendations were based on data related to similar conditions and/or expert consensus. There were 146 recommendations developed to ensure best practice in the delivery of health services to people with FRDA. Sixty-two percent of recommendations are based on expert opinion or good practice indicating the paucity of high-level quality clinical studies in this area. Whilst the development of these guidelines provides a critical first step in the provision of appropriate clinical care for people with FRDA, it also highlights the urgency of undertaking high-quality clinical studies that will ensure the delivery of optimum clinical management and intervention for people with FRDA.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.