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

Libby Wood, Isabell Cordts, Antonio Atalaia, Chiara Marini-Bettolo, Paul Maddison, Margaret Phillips, Mark Roberts, Mark Rogers, Simon Hammans, Volker Straub, Richard Petty, Richard Orrell, Darren G Monckton, Nikoletta Nikolenko, Aura Cecilia Jimenez-Moreno, Rachel Thompson, David Hilton-Jones, Chris Turner, Hanns Lochmüller, Libby Wood, Isabell Cordts, Antonio Atalaia, Chiara Marini-Bettolo, Paul Maddison, Margaret Phillips, Mark Roberts, Mark Rogers, Simon Hammans, Volker Straub, Richard Petty, Richard Orrell, Darren G Monckton, Nikoletta Nikolenko, Aura Cecilia Jimenez-Moreno, Rachel Thompson, David Hilton-Jones, Chris Turner, Hanns Lochmüller

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.

Keywords: Clinical trials; Myotonic dystrophy; Patient Registries; Trial readiness.

Conflict of interest statement

Conflicts of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical approval

This work has received a favourable ethical opinion from Newcastle and North Tyneside 1 Research Ethics Committee (reference 11/NE/0179) and has therefore been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

Informed consent

All persons gave their informed consent prior to their inclusion in the study. Details that might disclose the identity of the subjects have been omitted.

Figures

Fig. 1
Fig. 1
Map of patients and doctors of the UK Muscular Dystrophy Patient Registry. Blue pins represent an individual patient and yellow pins a doctor providing data
Fig. 2
Fig. 2
Selection of patients for the UK Muscular Dystrophy Registry Study. Red rectangle highlights the patients selected for the study
Fig. 3
Fig. 3
Age range of patients at the time of registration stratified by gender. A broad range of ages was present from 8 months to 78 years with the largest proportion between 30 and 59 years
Fig. 4
Fig. 4
Association between myotonia and the other symptoms fatigue, dysphagia, and ambulatory status The correlation between myotonia and fatigue was statistically significant (ρ = 0.461, p < 0.001), with relatively more patients having mild fatigue among the patients with mild myotonia, and relatively more patients having severe fatigue among the patients with severe myotonia. Similarly, a correlation between myotonia and ambulatory status existed (ρ = 0.337, p < 0.001). Dysphagia occurred significantly more frequently in patients with myotonia (p < 0.001). Numbers refer to patients with available information for the respective symptoms

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