The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

Abstract

Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the rarity and variability of the disease. The UK Myotonic Dystrophy Patient Registry is a patient self-enrolling online database collecting clinical and genetic information. For this cross-sectional “snapshot” analysis, 556 patients with a confirmed diagnosis of DM1 registered between May 2012 and July 2016 were included. An almost even distribution was seen between genders and a broad range of ages was present from 8 months to 78 years, with the largest proportion between 30 and 59 years. The two most frequent symptoms were fatigue and myotonia, reported by 79 and 78% of patients, respectively. The severity of myotonia correlated with the severity of fatigue as well as mobility impairment, and dysphagia occurred mostly in patients also reporting myotonia. Men reported significantly more frequent severe myotonia, whereas severe fatigue was more frequently reported by women. Cardiac abnormalities were diagnosed in 48% of patients and more than one-third of them needed a cardiac implant. Fifteen percent of patients used a non-invasive ventilation and cataracts were removed in 26% of patients, 65% of which before the age of 50 years. The registry’s primary aim was to facilitate and accelerate clinical research. However, these data also allow us to formulate questions for hypothesis-driven research that may lead to improvements in care and treatment.Electronic supplementary materialThe online version of this article (doi:10.1007/s00415-017-8483-2) contains supplementary material, which is available to authorized users.

Benign tumors in myotonic dystrophy type I target disease‐related cancer sites

“…To assess the robustness of our findings, we conducted several sensitivity analyses using more stringent definitions of DM1. We repeated the analysis using only: (1) DM1 patients diagnosed after their clinic's “up‐to‐standard” date (a CPRD practice‐level data quality metric); (2) DM1 patients diagnosed in 1995 or later (after DM1 gene discovery in 1992 and subsequent implementation of DM1 genetic testing in the UK); and (3) DM1 patients who had a DM1 record in at least two of the three data sources (CPRD primary care database, HES, and ONS). Additionally, we conducted a sensitivity analysis ending follow‐up at the maximum of three years (median follow‐up in the DM1‐free control group) for all patients, to assess whether differential follow‐up time for the DM1 and DM1‐free cohorts affected our results.…”

Benign and malignant tumors in the UK myotonic dystrophy patient registry

“…The UK DM Registry is a self‐enrollment registry targeting patients living with DM in the United Kingdom. It collects clinical and genetic information that are subsequently validated by medical professionals . In February 2015, we distributed a web‐based survey to adult (≥18 years old) UK DM Registry enrollees ( n = 409), followed by a mail survey to nonresponders.…”

Engineering Requirements of a Herpes Simplex Virus Patient Registry: Discovery Phase of a Real-World Evidence Platform to Advance Pharmacogenomics and Personalized Medicine

“…We investigated the current development frameworks employed by medical registries to understand their limitations and benefits. Patient-centred registry design was used in a number of registers including The UK Myotonic Dystrophy Patient Registry which is described as "an example of a novel, online-based, cost-effective, and patient-driven registry" [27]. This framework continuously monitors patient outcomes and experiences which is available in real-time to both clinicians and patients to facilitate their joint work [16].…”