ArticleOrphanet journal of rare diseases2020
Onset features and time to diagnosis in Friedreich's Ataxia.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 4 registered trials, which are not on this map. Cited by 33 papers, 2 of them syntheses that pooled it.
What it found
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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.
Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Dose Exploration Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CTI-1601 in Adult Subjects With Friedreich's Ataxia
A Phase 1 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Subcutaneous Nomlabofusp in Adolescents and Children With Friedreich's Ataxia
A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects With Friedreich's Ataxia
Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Progressive scoliosis in a pediatric patient with cerebellar ataxia: surgical challenges and literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Pooled it
- Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements.Cerebellum (London, England) · 2024Pooled it
- Atypical Presentations at Risk for Diagnostic Errors in Internal Medicine: A Scoping Review.Journal of general internal medicine · 2026Article
- Friedreich's ataxia patient pathway in Europe.Frontiers in health services · 2026Article
- Recent developments in Friedreich's ataxia: a state-of-the-art review.Brain communications · 2026Review
- Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia.Biomedicines · 2025Article
- Characteristics of Adverse Events and Clinical Risks of Omaveloxolone Based on FAERS Data.Cerebellum (London, England) · 2025Article
- Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing.Journal of community genetics · 2025Article
- A global perspective on research advances and future challenges in Friedreich ataxia.Nature reviews. Neurology · 2025Review
- The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap.Nature reviews. Drug discovery · 2025Review
- Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review.Frontiers in neurology · 2025Review
- Case Report: Complex cardiac arrhythmia management in the ICU for an adolescent with Friedreich ataxia.Frontiers in pediatrics · 2025Article
- Brain microvascular endothelial cells differentiated from a Friedreich's Ataxia patient iPSC are deficient in tight junction protein expression and paracellularly permeable.Frontiers in molecular neuroscience · 2025Article
- The diagnostic journey of patients being investigated for myopathy in a tertiary centre in England.Journal of neurology · 2024Article
- Assessment of the Clinical Interactions of GAA Repeat Expansions inNeurology. Genetics · 2024Article
- Skeletal Muscle Involvement in Friedreich Ataxia.International journal of molecular sciences · 2024Review
- Approval of omaveloxolone for Friedreich ataxia.Nature reviews. Neurology · 2024Article
- Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich's ataxia.Human molecular genetics · 2023Article
- Diagnostic Delay of Hereditary Ataxias in Brazil: the Case of Machado-Joseph Disease.Cerebellum (London, England) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 11 institutions in 7 countries.
Funding
Abstract
backgroundIn rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich's Ataxia (FRDA), a genetic disorder usually caused by homozygous GAA-repeat expansions.
methodsSix hundred eleven genetically confirmed FRDA patients were recruited within a multicentric natural history study conducted by the EFACTS (European FRDA Consortium for Translational Studies, ClinicalTrials.gov -Identifier NCT02069509). Age at first symptoms as well as age at first suspicion of FRDA by a physician were collected retrospectively at the baseline visit.
resultsIn 554 of cases (90.7%), disease presented with gait or coordination disturbances. In the others (n = 57, 9.3%), non-neurological features such as scoliosis or cardiomyopathy predated ataxia. Before the discovery of the causal mutation in 1996, median time to diagnosis was 4(IQR = 2-9) years and it improved significantly after the introduction of genetic testing (2(IQR = 1-5) years, p < 0.001). Still, after 1996, time to diagnosis was longer in patients with a) non-neurological presentation (mean 6.7, 95%CI [5.5,7.9] vs 4.5, [4.2,5] years in those with neurological presentation, p = 0.001) as well as in b) patients with late-onset (3(IQR = 1-7) vs 2(IQR = 1-5) years compared to typical onset < 25 years of age, p = 0.03). Age at onset significantly correlated with the length of the shorter GAA repeat (GAA1) in case of neurological onset (r = - 0,6; p < 0,0001), but not in patients with non-neurological presentation (r = - 0,1; p = 0,4). Across 54 siblings' pairs, differences in age at onset did not correlate with differences in GAA-repeat length (r = - 0,14, p = 0,3).
conclusionsIn the genetic era, presentation with non-neurological features or in the adulthood still leads to a significant diagnostic delay in FRDA. Well-known correlations between GAA1 repeat length and disease milestones are not valid in case of atypical presentations or positive family history.
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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.