ArticleJournal of neurology, neurosurgery, and psychiatry2017
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.
Article in Journal of neurology, neurosurgery, and psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03386266 (Biomarkers and Validation of Selected Outcome Measures), which is not on this map. Cited by 15 papers.
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.
Biomarkers and Validation of Selected Outcome Measures (CMTBiomarker)
Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- Nerve Diameter and DTI Parameters Maybe Potential Markers for Clinical Trial in Patients With Charcot-Marie-Tooth Disease Type 1A.European journal of neurology · 2025Article
- Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.Annals of neurology · 2023Review
- NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.Brain : a journal of neurology · 2022Article
- A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.The Journal of clinical investigation · 2022Article
- Mechanisms and Treatments in Demyelinating CMT.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.Neurology · 2021Article
- AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A.Nature communications · 2021Article
- The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.International journal of molecular sciences · 2021Review
- Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.Cells · 2020Review
- Are we prepared for clinical trials in Charcot-Marie-Tooth disease?Brain research · 2020Review
- Intraepidermal nerve fibre density as biomarker in Charcot-Marie-Tooth disease type 1A.Brain communications · 2020Article
- Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.Molecular neurobiology · 2019Review
- Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies.Annals of neurology · 2019Article
- Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy.Nature communications · 2018Article
Corrections and comments
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Authors and funding
29 authors at 15 institutions in 8 countries.
Funding
Abstract
backgroundCharcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for the development of new therapies. Hence, there is a strong need for sensitive outcome measures such as disease and progression biomarkers, which would add powerful tools to monitor therapeutic effects in CMT1A.
methodsWe established a pan-European and American consortium comprising nine clinical centres including 311 patients with CMT1A in total. From all patients, the CMT neuropathy score and secondary outcome measures were obtained and a skin biopsy collected. In order to assess and validate disease severity and progression biomarkers, we performed qPCR on a set of 16 animal model-derived potential biomarkers in skin biopsy mRNA extracts.
resultsIn 266 patients with CMT1A, a cluster of eight cutaneous transcripts differentiates disease severity with a sensitivity and specificity of 90% and 76.1%, respectively. In an additional cohort of 45 patients with CMT1A, from whom a second skin biopsy was taken after 2-3 years, the cutaneous mRNA expression of GSTT2, CTSA, PPARG, CDA, ENPP1 and NRG1-Iis changing over time and correlates with disease progression.
conclusionsIn summary, we provide evidence that cutaneous transcripts in patients with CMT1A serve as disease severity and progression biomarkers and, if implemented into clinical trials, they could markedly accelerate the development of a therapy for CMT1A.
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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.