ReviewAnnals of neurology2023
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.
Review in Annals of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
17 citing papers in PubMed, 25 citations in OpenAlex.
- PXT3003: Lessons for therapeutic development in Charcot-Marie-Tooth disease type 1A and related neuropathies.iScience · 2026Review
- Bayesian Dynamic Borrowing to Enhance Evidence for New Therapies.PharmacoEconomics · 2026Review
- Clinical Development of Therapies for Charcot-Marie-Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways.Journal of the peripheral nervous system : JPNS · 2026Review
- Functional disease progression in children with inherited peripheral neuropathies: A prospective cohort study.Journal of neuromuscular diseases · 2026Article
- Article
- Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy.Brain : a journal of neurology · 2026Observational
- Leveraging machine learning for digital gait analysis in ataxia using sensor-free motion capture.Communications medicine · 2026Article
- Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026Review
- Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.Brain : a journal of neurology · 2025Article
- The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia.Neurology. Genetics · 2025Article
- Twelve-month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years.Annals of clinical and translational neurology · 2025Article
- Review
- Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.Neurology · 2024Article
- Peripheral Nervous System (PNS) Myelin Diseases.Cold Spring Harbor perspectives in biology · 2024Review
- Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.Annals of clinical and translational neurology · 2024Article
- Assessment of whole-exome sequencing results in neurogenetic diseases.Journal of human genetics · 2023Article
- Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy.Annals of neurology · 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
8 authors at 8 institutions in 4 countries.
Funding
Abstract
Heritable neurological disorders provide insights into disease mechanisms that permit development of novel therapeutic approaches including antisense oligonucleotides, RNA interference, and gene replacement. Many neurogenetic diseases are rare and slowly progressive making it challenging to measure disease progression within short time frames. We share our experience developing clinical outcome assessments and disease biomarkers in the inherited peripheral neuropathies. We posit that carefully developed biomarkers from imaging, plasma, or skin can predict meaningful progression in functional and patient reported outcome assessments such that clinical trials of less than 2 years will be feasible for these rare and ultra-rare disorders. ANN NEUROL 2023;93:906-910.
Indexed as
Identifiers
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.