ArticleContemporary clinical trials2012
If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).
Article in Contemporary clinical trials, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 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
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Impact of biobanks on research outcomes in rare diseases: a systematic review.Orphanet journal of rare diseases · 2018Pooled it
- Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular Dystrophy.Neurology. Genetics · 2025Article
- DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy.Skeletal muscle · 2025Review
- A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance.Orphanet journal of rare diseases · 2023Review
- Milestones of progression in myotonic dystrophy type 1 and type 2.Muscle & nerve · 2022Article
- The ongoing French BaMaRa-BNDMR cohort: implementation and deployment of a nationwide information system on rare disease.Journal of the American Medical Informatics Association : JAMIA · 2022Article
- Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7.EMBO molecular medicine · 2021Review
- The facioscapulohumeral muscular dystrophy Rasch-built overall disability scale (FSHD-RODS).European journal of neurology · 2021Article
- Characterization of individuals with selected muscular dystrophies from the expanded pilot of the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) in the United States.Birth defects research · 2021Article
- Current Therapeutic Approaches in FSHD.Journal of neuromuscular diseases · 2021Review
- Preferences for Accessing Electronic Health Records for Research Purposes: Views of Parents Who Have a Child With a Known or Suspected Genetic Condition.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2020Article
- Patient-reported study of the impact of pediatric-onset myotonic dystrophy.Muscle & nerve · 2019Article
- Article
- Survival patterns and cancer determinants in families with myotonic dystrophy type 1.European journal of neurology · 2019Article
- Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries.Frontiers in neurology · 2019Article
- The French National Registry of patients with Facioscapulohumeral muscular dystrophy.Orphanet journal of rare diseases · 2018Article
- 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 · 2018Article
- An overview of the impact of rare disease characteristics on research methodology.Orphanet journal of rare diseases · 2018Review
- High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2.Neurology · 2017Article
- The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.Journal of neurology · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
introductionRegistries are becoming increasingly important for rare diseases as experimental therapies develop. This report describes the methodology behind the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) Patients and Family Members to facilitate the development of other rare disease registries. We also highlight data about the pathophysiology and select burdens of DM and FSHD reported at baseline and longitudinally.
methodsThe Registry consists of de-identified, patient reported information collected at baseline and annually and information from review of medical records. Investigators can use the Registry to analyze de-identified data and to facilitate recruitment into clinical studies.
resultsTo date, the Registry has enrolled 1611 members, facilitated 24 studies, and collected data annually for up to 8 years. Genetic test results were obtained in 56.2% of enrollees. Approximately one-third of members used assistive devices and another one-third reported psychological problems at baseline. Wheelchair use was reported for both short and long distances by 7.0% of DM and 18.1% of FSHD members. Approximately 60% of members reported their employment was affected by their disease.
conclusionsStrengths of the Registry include large sample sizes, stringent review of clinical and molecular data, annually updated information, and regular interactions between patients and investigators. Registry data provide new insights into the burdens of DM and FSHD, such as, psychological problems and reduced employment. Opportunities abound for investigators to utilize Registry resources to assess the impact of these and other burdens on health care costs, progression of symptoms, and quality of life.
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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.