Research projects supported by the registry
The registry has helped support a wide range of researchers since 2012 with recruitment to research projects, surveys and clinical trials. The registry has also enabled the sharing of de-identified data with interested researchers to understand more about specific aspects of myotonic dystrophy.
Please see below the range of projects that the registry has supported. We would like to thank all of the patients and caregivers for their involvement in these projects, and for continuing to support researchers by engaging in such projects.
Registry enquiries since 2012:
- University of Rochester Neuromuscular Disease survey. The aim of the survey was to understand the impact of COVID-19 on patients with neuromuscular diseases.
- The IMI project PREFER (‘Patient Preferences in Benefit and Risk Assessments during the Drug Life Cycle’) launched in 2016 with the overall aim of strengthening patient-centric decision making throughout the life cycle of medicinal products, by developing evidence and expert-based recommendations to inform stakeholders involved in the process (i.e. Regulatory Authorities, industry, HTA bodies, academia and health care professionals). A pilot survey was circulated by the registry in March 2020 with 17% of patients (69) recruited through the registry.
- Cure DM patient organisation survey. The registry circulated this survey which aimed to understand more about congenital or juvenile onset DM disease and its management on the registry and help direct more support to those areas in the UK. There were 220 patients from the registry that took part.
- European Reference Network (ERN) for Rare Neuromuscular Diseases COVID survey. The ERN aimed to collect data on the effects of COVID-19 in NMD patients. A survey was circulated in April 2020.
- University of Plymouth Stay COVID survey. The aim of the survey was to find out how the Stay Home advice during the pandemic has influenced parents’ decision making and care of sick or injured children. A survey was circulated in April 2020.
- University of Rochester Neuromuscular Disease survey. The aim of the survey was to understand the impact of COVID-19 on patients with neuromuscular diseases. A survey was circulated in May 2020.
- A confidential industry enquiry
- Share4Rare neuromuscular pilot and education/employment survey. The registry circulated a new neuromuscular platform and survey to over 900 patients.
- University College London NHS Foundation Trust dysphagia in neuromuscular disorders survey. The registry circulated this survey on swallowing difficulties to caregivers and patients, to help understand how service delivery in the UK may be optimised. Of the DM participants, 74% heard about the survey through the registry.
- Newcastle University Fertility and Pregnancy survey in Neuromuscular Diseases. A survey was developed by Newcastle University to understand more about fertility and pregnancy in neuromuscular diseases. This was circulated through the registry in July 2020 and 17% of participants (75) had DM and were from the registry.
- Genetic Alliance Patient and Caregiver Experience survey. A survey was developed by Genetic Alliance to understand the details of the rare disease patient and caregiver experience, so that they can detect future changes brought about by the new rare disease framework (formerly known as the UK Strategy for Rare Diseases). The was circulated through the registry in July 2020.
- Sysnav and Parent Project Muscular Dystrophy Digital Endpoint survey. A research survey was developed by Parent Project Muscular Dystrophy (PPMD) and Sysnav, for patients living with a neuromuscular disease, their families, and caregivers. This is an international survey collecting the opinion, expectations, and concerns regarding the use of a wearable device in clinical trials as well as the clinical meaningfulness of potential outputs. This was circulated through the registry in August 2020. There were 105 DM patients and 9 caregivers who took part from an international sample with the registry contributing to this.
- Support the TREAT-NMD Global Registry Network by providing some demographic on the registry to highlight the registries that are affiliated and full members and to explore the strengths and weaknesses of the collaboration.
- Recruitment for focus groups and interviews for the patient preference study, PREFER. There were 67 patients or carers who self-reported interest in this study with 72% coming from the registry. For the first phase of PREFER, 49 patients took part.
- University College London NHS Foundation Trust ran a DM patient/carer advisory group who could provide insight into swallowing disorders to help shape future research. There were 25 people with DM1 who registered their interest with 84% coming from the registry.
- UK National Confidential Enquiry into Patient Outcome and Death (NCEPOD) long term ventilation survey. This survey was circulated by the registry to relevant parents and caregivers.
- A PhD student at King’s College London was running a study measuring active and resting behaviours in people with progressive muscle weakness, and to test the quality of measurement. Study information was shared with the registry and there were over 100 participants from the registry who expressed interest to take part. Due to study capacity, only 5 patients were included from the registry.
- Loughborough University DM and autism inheritance film study of parent, with young adults who have DM and comorbid autism spectrum disorder.
- No registry enquiries
- No registry enquiries
- AMO Pharma recruitment for the phase II clinical trial of tideglusib in DM. The study was set up in Newcastle and 16 participants were recruited, with approximately 35% recruited through the registry.
- An international project involving the UK, France, Germany and the Netherlands created a multi-national survey about falls and complications in DM. The survey was sent to 510 patients on the registry and 49% responded.
- Newcastle University feasibility enquiry to explore bradyarrhythmia in childhood-onset DM1 and congenital DM.
- University of Aveiro semantic data integration study. The registry dataset was extracted to support this study.
- Recruitment for the international OPTIMISTIC clinical trial where 255 patients were recruited from four European sites. At Newcastle there were 52 participants recruited of which more than 50% were recruited through the registry.
- Nottingham University recruitment for deep molecular phenotyping of DM1 hiPSC cardiomyocytes, to facilitate risk stratification and drug evaluation. The registry helped recruit approximately 40% of participants.
- Recruitment for the study PHENO-DM1 where 213 participants were recruited across the London and Newcastle sites, of which approximately 40% were recruited through the registry.
- National Institute of Health survey distribution capturing tumour history and lifestyle information from 261 participants through the registry.
- Feasibility enquiry using the registry for AMO Pharma.
- Kings College Hospital NHS Foundation Trust feasibility enquiry to explore pregnancy in DM.
- Loughborough University recruitment for “Illuminating Loss”, a film study of siblings with DM. Out of 11 participants, 9 were recruited from the registry.
- Nottingham University recruitment for natural history study on the identification of potential biomarkers in DM1, for therapy development. Out of 60 participants, 22 were recruited through the registry.
- No registry enquiries