The Department for Neuropediatrics and Muscular Disorders (Interim Chair: Applicant Dr. Langer) and the Section of HealthCare Research and Rehabilitation Research within the Full proposal application form EJP RD JTC 2021 

Faculty of Medicine (Director Prof. Farin-Glattacker) have collaborated closely in a number of projects combining clinical excellence in rare neuromuscular diseases with methodological expertise in qualitative and quantitative methods, particularly the evaluation of complex interventions.

Examples related to this proposal are listed below:

• Comparative international survey of care practices in DMD in 2011 (care-nme.eu).
• Comparative analysis of intervention policies and social security in case of reduced working capacity in the Netherlands, Finland and Germany.
• Development and evaluation of case management to improve care integration in Spinal Muscular Atrophy (SMA).
• Analyzing the decision-making process regarding mechanical ventilation in patients with Spinal Muscular Atrophy (SMA) from the parents‘ and physicians‘ perspectives.
• Development of a Patient and Family Advisory Board for the healthcare research group since 2020 (publication in preparation).

With more than 9600 members the DGM is the largest self-help organization in Germany for people with neuromuscular disorders.

The organization offers comprehensive advice, support and the opportunity to exchange experience for affected people and their families. The DGM is committed to the interests of those affected in the health policy area and specifically promotes research in the field of neuromuscular diseases.

Gudrun Reeskau is part of the professional social consulting team. She is engaged in the Grow DMD project to improve the transition process for young people with muscle dystrophy Duchenne.

www.dgm.org

CanChild is housed within the School of Rehabilitation Science at McMaster University and is the hub of an academic network of international scientists who conduct applied clinical and health services research. CanChild research efforts focus on children and youth with disabilities and their families. We will rely on:

• our vast experience and strong network of parents participating in research(22); we established a dedicated “Parents Participating in Research Group” with about 200 members across Canada and beyond, as well as establishing the first “Family Engagement in Research Course” in collaboration with Kids Brain Health Network Canada and McMaster University Department for Continuing Education.
• our experience in Transition research (15, 23) with currently 3 transition studies underway (˝Transition˝, ˝TRUST Study˝ and ˝MyStory˝).
• our capacity to implement knowledge gained into the Canadian healthcare system as evidenced by our status as one of the co-founders of the Canadian Transition Hub with representation of stakeholders from across the whole country.

The Neurological Institute Besta with its Units is strongly translational and its research contributes to defining functioning and disability profiles with the development and implementation of new measurement tools and the use of the Patient-Reported Outcome Measures (PROMs) both of patients and of their caregivers. Our specific experience includes:

• developing and implementing the Questionnaire Transition Besta (QTB) with chronic patients within a national project on models for managing follow-up of patients living with complex pathological conditions during the transition from childhood into adulthood (CCM COTEAM)
• investigating functioning and disability measures of AGEing in people with Down syndrome. The project developed an instrument for a national and European implementation, analyzed age-related transitions in people with Down syndrome and their caregivers and evaluated policies and future plans (Project DOSAGE).(25)
• evaluating the burden on and needs of caregivers of people with disorders of consciousness and developing guidelines for policy and services development (Project PRECIOUS).

Parent Project aps is a non-profit organization of patients and parents with children affected by Duchenne and Becker Muscular Dystrophy (DMD/BMD).  Since 1996, Parent Project has been working to improve the treatment, quality of life and long-term prospects of children and young men living with the disease through research, education, training and awareness. Our goals are: to sustain families who face DMD/BMD through a network of counselling centres with the professional help of psychologists and social workers; to promote and support scientific research on the disease through fundraising activities and campaigns; to develop a collaborative network in order to share and disseminate key information.

www.parentproject.it