MD-NET disease/ translational resource services

Provided by MD-NET

Guidelines and advice for professionals and patients
Best Practice Guidelines on molecular diagnostics in Duchenne / Becker muscular dystrophies (2010)
Diagnosis and management of Duchenne muscular dystrophy
Consensus statement for standard of care in spinal muscular atrophy (2007)
Heart failure DEGAM guideline No. 9 (2006)
Diagnostics and therapeutic approaches for mitochondrial disease in children and adolescents – S2 guideline (2009)
Diagnosis of myopathies (2008)
Guidelines for the molecular genetic diagnosis of muscular dystrophies Duchenne and Becker (1999)
Consensus statement on standard of care for congenital muscular dystrophies (2010)

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MINDDS disease/ translational resource services

Provided by MINDDS

MINDDS will achieve its objectives by:

Design and develop of an approach for transnational patient recruitment, incorporating regulatory, legal and ethical requirements. These will include protocols for new clinical assessment, patient registration and data deposition.
Standardization of protocols and methodologies to maximize the utility
and quality of the resultant research data outputs. Standardized research protocols will encompass the major study regimes, including clinical phenotyping, brain imaging and patient-derived cell studies.
Delivery of data integration and sharing via linkage to relevant data platforms, supporting informatics protocols to enhance NDD patient research.
Place the study of rare NDD patients in the context of other neuroscience research by promoting a Convergent Neuroscience approach.
An education programme for enhanced training and knowledge exchange including research conferences, training schools and workshops.
Creation of standardized protocols, experimental methodologies and best practice for NDD research.
Knowledge exchange via its “Knowledge Nexus” to collate and share our expanding knowledge with researchers, clinicians and patients.

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SOLVE-RD disease/ translational resource services

Provided by SOLVE-RD

Clinical Patient Management System (CPMS) is a secure IT-Platform used by clinicians across Europe to discuss patient cases without the patients having to travel. The ERN Experts (from one or more ERNs) gather in multidisciplinary panels and use CPMS to carry out e-consultations of rare and complex cases. Patient medical documents can be safely uploaded to the CPMS after a consent form has been signed by the patient.
Integrated tools in CPMS allow peer-to-peer communication, viewing of digital documents and recording expert contributions. This promotes an active collaboration, sharing knowledge and experience within and across ERNs. The health professionals are ultimately aiming an outcome either as a diagnosis, treatment, clinical trial or other.

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