Clinical Patient Management System - an Update!

The first version of the Clinical Patient Management System (CPMS) was launched late last year and we are seeking several patients' consent once, we have these in place we will be able to register their details on the system. We are also now in the process of ensuring that a small number of ERN participants have their logins and access in place. Having both of these in place will allow us to register our very first cases. The number of both patients and ERN participants have been deliberately 'kept small' in these initially stages on the project to ensure maximum successful engagement. 

We will of course keep you all informed as to our progress and indeed any outcomes at this very exciting time for our network.

European Reference Networks and RD-ACTION are tackling challenges concerning Clinical Practice Guidelines

RD-ACTION, the European Joint Action for Rare Diseases, has dedicated considerable energies and resources to support the implementation and development of European Reference Networks (ERNs), particularly through its Policy and Integration Work Package.

The reason for this focus is simple: ERNs offer an unprecedented opportunity for the rare disease and specialised healthcare communities in Europe by concentrating expertise and resources across the many thousands of rare conditions, bringing patients a step closer to real equality in accessing the best possible care regardless of where they happen to live.

The responsibilities of ERNs are numerous and daunting: therefore, RD-ACTION set-out to add value by working with the new Networks to identify -and where possible, support the embedding of- good practices and resources, by drawing upon successes in the rare disease and rare cancer field in the pre-ERN era as well as cutting-edge developments in broader fields, and seeking to translate these to the Networks.

Updated Care Considerations for Duchenne have been published in The Lancet Neurology

We are delighted to announce that a significant update to the 2010 publications, ‘Diagnosis and management of Duchenne muscular dystrophy’1,2 has 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:

Part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management (http://www.thelancet.com/journals/laneur/article/PIIS1474-4422(18)30024-3/fulltext)

Part 2: respiratory, cardiac, bone health, and orthopaedic management (http://www.thelancet.com/journals/laneur/article/PIIS1474-4422(18)30025-5/fulltext)

Part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan (http://www.thelancet.com/journals/laneur/article/PIIS1474-4422(18)30026-7/fulltext)

Updated Family Guides will be available in the coming months.

Refs

1. Bushby, K, Finkel, R, Birnkrant, DJ..., and for the DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010; 9: 77–932. Bushby, K, Finkel, R, Birnkrant, DJ..., and for the DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010; 9: 177–189

Updated Standards of Care for SMA - Neuromuscular Disorders (Publication)

We are delighted to announce that 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:

1. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
2. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

TREAT-NMD are working with physiotherapists, nutritionists, clinicians and the following patient organisations, to begin work on updating the SMA family guide:

• SMA Support UK
• MDUK
• SMA Europe
• Cure SMA