Training and capacity buildling of the rare disease research and care community

Provided by European Joint Programme on Rare Diseases (EJP RD)


The EJP RD Training and Empowerment program aims to develop knowledge and build capacity of the rare disease (RD) research and care community through the delivery of training programs on a wide range of relevant topics thereby providing opportunities to a large panel of stakeholders, including:
The main objectives of the training activities on data management & quality are to decrease rare disease data fragmentation and increase data quality by raising the level of capacities and help data sharing in a FAIR ecosystem. The training activities cover a variety of topics including but not limited to variant interpretation, data management, registries, FAIRfication processes, Orphacodes, biobanking, and undiagnosed cases.
The overall objective of this training module is to improve rare disease research and innovation and to enhance the uptake of research results by building the capacity of the patient community and other key stakeholders. Moreover, dedicated educational activities will be aimed to train “expert” paediatric patients on rare diseases, paediatric medicines development and clinical research.

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EURORDIS promotes the implementation of services adapted to the needs of people living with a rare disease and provides:
* Specialised Social Services are instrumental to the empowerment of people living with rare diseases and essential to the improvement of their well-being and health.
*, the online network for rare disease communities, brings together patients, families, and groups from around the world who might otherwise be isolated
* Patient Community Advisory Boards (CABs) are groups established by patient advocates to discuss the latest developments, challenges and issues related to medical research in their disease area.
* Rare disease help lines offer social, psychological and information solutions to people living with a rare disease.

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Mechanism of Coordinated Access to orphan medicinal products (MoCA)



* Mechanism of Coordinated Access to orphan medicinal products (MoCA): is a platform where companies’ issues around reimbursement or financing schemes can be discussed with a variety of jurisdictions and societal perspectives. It provides a mechanism for European countries to collaborate on coordinated access to orphan medicines in a voluntary, dialogue-based approach, intended to create a fluid set of interactions between key stakeholders, across all aspects of a product.

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Clinical Outcome Assessments support services

Provided by Mapi Trust

MAPI trust

Mapi Research Trust’s PROVIDE services are a unique resource for the scientific community. This full-range support is critical for anyone involved in the field of Clinical Outcomes Assessments (COAs).
PROVIDE, which is available on an ad-hoc basis or within the context of annual subscriptions, includes the following in-house easily accessible services (non-exhaustive list):

Copyright for measures (who owns the measure)
Available translated versions & methodology to translate
Translation Certificates
Providing of scoring manuals
Licensing process / permission to use measures
Find measures in a specific therapeutic indication/on-going clinical trials
Original and review copies of thousands of COAs and translations
List of COA concepts
List of recommended COAs from guidelines
PRO Claims: a study of competitor products and COA Labeling claims
Provide reports that come from PROQOLID / PROLabels
Developer contact (for conditions of use, scoring, translation, etc.)
Bibliographic references
See content validity documentation, availability, psychometric properties, etc.

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Computational model of biological systems

Provided by ISBE NL

Make Me My Model ( 4M 4U): Non modellers can obtain (assistance with) the making of a computational model of their biological system. If we can, we shall make you your model such that you can run it, use it to make predictions of the schemes you have in mind and compare that with your experimental results. Contact isbe@nl to make you a model of an experimental biological or medical system you are researching. In this way we can establish whether we have the modelling expertise to help you or can refer you to other isbe nodes

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MD-NET – Network for Muscular Dystrophy

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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M4 – Make Me My Model- Flux Balance Analysis

Provided by SYSBIO – Centre of Systems Biology


M4 – MAKE ME MY MODEL consultancy service – Flux Balance Analysis
M4 – Make Me My Model is an initiative of ISBE light, the starting pilot of ISBE. At SYSBIO, you can contact us to develop a metabolic math model specific for your research. This constraint-based model approach, called Flux Balance Analysis, could be of great usefulness to understand your data and improve the impact of your publication (i.e. better journal, wider and multidisciplinary approach, etc.). Different approaches can be provided, thanks to ISBE partners.

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EPTRI integrated services

Provided by EPTRI


EPTRI provides integrated services for research developments through its five Thematic Research Platforms according to their specific research area of expertise:
1. PAEDIATRIC MEDICINES DISCOVERY, which relates to the early-stage discovery and development of druggable molecular targets specific to paediatric disease, as well as discovery of new drugs specific for the paediatric population.
2. PAEDIATRIC BIOMARKERS, performing research to identify, characterise and validate new biomarkers for diagnosis, prognosis and personalised therapy in paediatric diseases; provide access to/deposit of annotated paediatric biological samples.
3. DEVELOPMENTAL PHARMACOLOGY, concerning studies on the pharmacological characteristics of drugs and related body response, based on the knowledge of growth and development/maturation of the organs and functions
4. PAEDIATRIC MEDICINES FORMULATIONS, which develops appropriate age-specific formulations and adequate delivery systems for preterm neonates, infants, toddlers, children and adolescents.
5. PAEDIATRIC MEDICAL DEVICES to cover the gap in medical devices tailored for children addressing the changes in growth and psychosocial maturation, physiology, and pathophysiology, and avoid inappropriate repurposing of adult technologies.

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Paediatric clinical trial management

Provided by PedCRIN


PedCRIN developed a series of tools (WP3) and procedures to support the setup and the management of multinational neonatal and paediatric clinical trials in Europe. These tools are developed to train and support researchers and clinicians so they can establish, run, and manage both paediatric and neonatal multinational clinical trials in a more effective and easier way. The removal of barriers to trial management will speed up the evaluation of new and improved therapies.

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EPTRI centralised services

Provided by EPTRI


The EPTRI centralised services are provided by experts involved in the EPTRI Central Hub:
1. Paediatric ELSI (Ethical-Legal-Societal Issues) Advice
2. Advice on the design and requirements of not clinical specific studies/experiments
3. Advice on regulatory issues
4. Advice on translation into clinical phases

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