Other initiatives

Partner of the RD-Connect Consortium

A unique global infrastructure project that links databases, registries, biobanks and clinical bioinformatics data used in rare disease research.

Member of the Executive Committee of the International Consortium for Rare Disease Research

This Consortium (IRDiRC) brings together national and international governmental and non-profit funding agencies, companies (including pharmaceutical and biotech companies), patient advocacy organizations and research scientists to promote international collaboration and advance rare disease research worldwide.

Erasmus + "The value of facing school: the inclusion of youth with neuromuscular diseases, muscular dystrophies and other rare diseases in education

As part of its mission to raise awareness of rare diseases on a European scale, the Foundation took part in the Erasmus + program "The value of facing school: the inclusion of youth with neuromuscular diseases, muscular dystrophies and other rare diseases in education" coordinated by the Fundación Isabel Gemio in 2022.

The main objective of this program is to create a cooperation of the institutions involved with the aim of changing the teaching methods to improve the care and integration at school of students with muscular dystrophies and, more generally, with a rare disease.

In this context, the Foundation is in charge of coordinating the PR2 "Facing muscular dystrophies and other rare diseases in school" which aims to provide content and exercises for teachers, parents and school children.

SIMPATHIC: Accelerating the repositioning of drugs for rare diseases

SIMPATHIC, an acronym for "Accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular disorders by exploiting SIMilarities in clinical and molecular PATHology", is a major initiative involving 22 international partners. Among them are renowned academic medical centers and patient organizations dedicated to rare diseases.

Project objective

SIMPATHIC aims to accelerate the repositioning of drugs for rare diseases by exploiting similarities in clinical and molecular pathology. This innovative project brings together patients, researchers and regulators with the aim of developing suitable treatments for those who currently have few or none.

Role of the Fondation Maladies Rares

Leader in WP1 (Patient empowerment, patient selection and outcome measures):

• Task 1 leadership: Patient training

• Task 2 leadership: Patient-reported outcome measures (PROMs)

As WP1 leader, the Foundation plays a crucial role in empowering patients, selecting participants and defining outcome measures, ensuring active and informed patient participation throughout the process.

Contributor to WP4 (Clinical trial design and execution) and WP6 (Coordination, data management, education, sustainability):

• Essential contribution to WP4 in the design and execution of clinical trials, aimed at ensuring efficient and ethical studies to test new therapeutic approaches.

• Commitment to WP6 for project coordination, data management, education and sustainability, ensuring effective implementation and long-term sustainability of the results achieved.

Expected impact

Through multidisciplinary collaboration and the use of innovative techniques, SIMPATHIC aims to transform the research and treatment of rare diseases, offering new hope to patients and their families worldwide.

To find out more about our involvement in the SIMPATHIC project and the latest advances, explore the project website here.