ArticleOrphanet journal of rare diseases2018
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT04003363 (The UK National Registry for Myotonic Dystrophy), which is not on this map. Cited by 11 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.
The UK National Registry for Myotonic Dystrophy
Who cites it
11 citing papers in PubMed, 26 citations in OpenAlex.
- Genotype-phenotype relationship in a cohort of 131 Chinese patients with myotonic dystrophy type 1.BMC neurology · 2026Article
- International collaboration to improve knowledge on myotonic dystrophy type 2.Journal of neuromuscular diseases · 2024Article
- Clinical score for early diagnosis of myotonic dystrophy type 2.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Rare diseases and space health: optimizing synergies from scientific questions to care.NPJ microgravity · 2022Review
- The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review.Orphanet journal of rare diseases · 2022Review
- Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome.Orphanet journal of rare diseases · 2022Review
- Myotonic Dystrophies: A Genetic Overview.Genes · 2022Review
- DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.International journal of molecular sciences · 2020Review
- Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.Orphanet journal of rare diseases · 2019Article
- The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.Orphanet journal of rare diseases · 2019Article
- Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by StabilizingFrontiers in genetics · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
39 authors at 20 institutions in 17 countries.
Funding
Abstract
backgroundMyotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess the proliferation and utility the dataset agreed in 2009. These registries represent over 10,000 myotonic dystrophy patients worldwide (Europe, North America, Asia and Oceania).
resultsThe registries use a variety of data collection methods (e.g. online patient surveys or clinician led) and have a variety of budgets (from being run by volunteers to annual budgets over €200,000). All registries collect at least some of the originally agreed data items, and a number of additional items have been suggested in particular items on cognitive impact.
conclusionsThe community should consider how to maximise this collective resource in future therapeutic programmes.
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.