The tools and resources developed through TREAT-NMD have helped to advance translational research in the neuromuscular field. Below are some of the most recent publications on these tools and resources.
Global FKRP Registry: Observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin‐Related Protein (FKRP ) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital muscular dystrophies MDC1C, Muscle–Eye–Brain Disease and Walker–Warburg Syndrome. The registry seeks to further understand the natural history and prevalence of FKRP‐related conditions; aid the rapid identification of eligible patients for clinical studies; and provide a source of information to clinical and academic communities.
The paper has been published in the Wiley Online Library.
Updated Care Considerations for DMD – The Lancet Neurology
This is a significant update to the 2010 publications, ‘Diagnosis and management of Duchenne muscular dystrophy’ parts 1 and 2 have now been published in The Lancet Neurology.
A multidisciplinary committee of experts was established in 2014 with the task of updating the care considerations from 2010 in order to benefit patient care. The new care considerations address the needs of patients with prolonged survival, offer guidance on assessments and interventions, and consider the implications of emerging therapies for Duchenne Muscular Dystrophy (DMD). The committee identified three new topics to be addressed in addition to the eight from 2010. These are primary care and emergency management, endocrine management and transition of care across the lifespan. The care considerations are now published online as 3 papers:
Updated Standards of Care for SMA – Neuromuscular Disorders
This is an update of the standard of care recommendations for spinal muscular atrophy (SMA) published in 2007 (‘Consensus statement for standard of care in spinal muscular atrophy‘) is now available. The 2-part report is published in Neuromuscular Disorders:
- Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
- Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Limb-girdle muscular dystrophies— international collaborations fortranslational research
‘This review explores the international collaborations that are addressing these translationalresearch issues, and the lessons learned from large-scale LGMD sequencing programmes’ Straub, Thompson. Nature Reviews Neurology (2016)
The importance of genetic diagnosis for Duchenne muscular dystrophy.
‘This review discusses different mutations causing DMD, diagnostic techniques available for making a geneticdiagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD.’ Aartsma-Rus, Ginjaar, Bushby et al. Journal of Medical Genetics 2015, January
Recent developments in the management of Duchenne muscular dystrophy
‘This review is based on the internationally agreed care recommendations for DMD and aims to provide some guidelines to paediatricians for the management of these patients.’ Guglieri M, Bushby K. Paediatrics and Child Health, Volume 25, Issue 11, November 2015, Pages 505–514
Imperatives of DMD – academic paper
‘Imperatives for DUCHENNE MD: a Simplified Guide to Comprehensive Care for Duchenne Muscular Dystrophy’, Kinnett K et al. PLOS 2015, August.
TREAT-NMD Advisory Committee for Therapeutics
‘The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development‘, Heslop E et al. Orphanet Journal of Rare Diseases 2015, April
TREAT-NMD Advisory Committee for Therapeutics (TACT) was established to provide independent and objective guidance on the preclinical and development pathway of potential therapies (whether novel or repurposed) for NMD.
TREAT-NMD DMD Global database
‘The TREAT-NMD DMD Global database: Analysis of More Than 7000 Duchenne Muscular Dystrophy Mutations’, Bladen C et al. Human Mutation 2015, January
Analysing the type and frequency of patient specific mutations that give rise to Duchenne Muscular Dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning and improved clinical care. Locus specific databases (LSDBs) allow for the collection, organization, storage and analysis of genetic variants of disease.
DMD Adult Care
‘Adultcare for Duchenne muscular dystrophy in the UK’, Rodger S. et al. Journal of Neurology 2014, December
Survival in Duchenne muscular dystrophy (DMD) has increased in recent years due to iterative improvements in care. This paper describes the results of the CARE-NMD survey of care practices for adults with DMD in the UK in light of international consensus care guidelines. It also compares the UK experience of adult care with the care available to pediatric patients and adults in other European countries (Germany, Denmark, Bulgaria, Czech Republic, Hungary, and Poland).
Burden of Illness
‘The burden of Duchenne muscular dystrophy – An international, cross-sectional study’, Bushby K et al.
This paper estimates the total cost of illness and economic burden of Duchenne muscular dystrophy (DMD). Patients with DMD from Germany, Italy, United Kingdom, and United States were identified through TREAT-NMD registries and invited to complete a questionnaire online together with a caregiver. Data on health care use, quality of life, work status, informal care, and household expenses were collected to estimate costs of DMD from the perspective of society and caregiver households.
‘The TREAT-NMD Duchenne muscular dystrophy registries: conception, design and utilisation by industry and academia’, Bladen C.L. et al, Human Mutation 2013, 34(11):1449-1457
This publication describes the TREAT-NMD Global DMD Registry, which contains a harmonised set of data elements from national DMD registries and covers over 13,500 patients in 31 different countries. It describes how the TREAT-NMD national patient registries for DMD were established and how they contribute to the Global Registry, their continued growth, and their success in fostering collaboration between academia, patient organizations, and industry.
‘Mapping the differences in care for 5000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe’, Bladen C.L. et al, Journal of Neurology 2013, October
This paper describes the design, setup and utilisation of the TREAT-NMD national SMA patient registries. They are characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients. A selection of clinical items from the SMA registries is analysed, providing a snapshot of clinical data stratified by SMA subtype, and compare these results with published recommendations on standards of care.
Care and Trial Site Registry (CTSR)
‘The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases’, Rodger S. et al, Orphanet Journal of Rare Diseases 2013, 8:171
This paper describes the development of the TREAT-NMD Care and Trial Site Registry (CTSR), and its utility in providing an infrastructure for clinical trial feasibility, recruitment, and other studies. It permits the identification of particular specialist centres of expertise, and of medical professionals operating at such sites who may be competent to participate in trials. 285 CTSR-registered centres, reporting more than 35,000 neuromuscular patients, are described alongside an analysis of their provision for DMD.