DéfiScience, Filière de Santé Maladies Rares

What DéfiScience, Filière de Santé Maladies Rares does

DéfiScience is a French national rare disease coordination network (Filière de Santé Maladies Rares, FSMR) hosted by the Hospices Civils de Lyon under the joint supervision of the Ministry of Health (DGOS) and the Ministry of Research. Its mandate is to coordinate the prevention, diagnosis, treatment, and care pathway for patients with rare neurodevelopmental diseases — including intellectual disabilities of rare origin, autism of rare origin, and rare neurodevelopmental syndromes — affecting an estimated ~3 million people in France. The network federates 113 expert centres (42 Centres de Référence and 71 Centres de Compétence) across university hospital centres, supported by patient associations and research teams affiliated with Inserm and university laboratories.

Its core products and outputs are clinical and educational rather than commercial. These include 50+ Protocoles Nationaux de Diagnostic et de Soins (PNDS), approximately 20 Therapeutic Education Programmes (ETP), parent-training toolkits (Mallette FACILE Céto, RECUP'Pairs), digital training assets (MOOC, e-learning, webinars), and aggregated epidemiological data feeding the BNDMR/BaMaRa national rare disease registry. The organization also manages an annual research grant programme (AAP) typically disbursing ~€45,000 per cycle. In October 2024, DéfiScience obtained Qualiopi certification, formalizing its training activity into a certifiable revenue stream.

DéfiScience's business model is non-commercial and publicly funded. Its operating budget is allocated by the French Ministry of Health through the DGOS as part of the 4th National Rare Disease Plan (PNMR4, launched February 2025), with the mandate renewed in December 2023. There is no customer-facing pricing model in the conventional sense; coordinated centres and patient associations are the network beneficiaries rather than paying customers. The organization is positioned as a public-policy instrument: its "revenue" is the policy budget, and its "go-to-market" is ministerial designation rather than commercial sales.

Name

DéfiScience, Filière de Santé Maladies Rares

Legal name

Filière DéfiScience, Filière de Santé Maladies Rares du Neurodéveloppement

Website

https://defiscience.fr

Company type

Private

Operating status

Operating

Headcount range

1–10 employees

Short description

DéfiScience is the French national rare disease coordination network (FSMR) for rare neurodevelopmental diseases, hosted by Hospices Civils de Lyon and funded by the Ministry of Health. It federates 113 expert centres and produces clinical protocols, training programmes, and support toolkits for ~3 million affected patients.

Ownership category

akta.pro rank

Product category

Rare Disease Healthcare Coordination

NAICS

Public Administration (92), Voluntary Health Organizations (813212), Scientific Research and Development Services (5417)

SIC

Services-Health Services (8000), Services-Misc Health & Allied Services, Nec (8090)

akta.pro primary industry

Public Health Financing, Budgeting & Grants Management (HLAJAMAC)

Keywords

• Rare disease networks
• Neurodevelopmental disorders
• Healthcare coordination
• Medical training programs
• Patient education materials

Headquarters

HQ city

Bron

HQ country

France

HQ region

Europe

Offices1 record

Markets served

GTM type

B2B

Offering type

Services

Cost components

Personnel, Operations, Technology or R&D, Marketing or Sales

Pricing tiers

Distribution channels1 record

Marketing channels11 records

Core offering

DéfiScience is a national rare disease health network (Filière de Santé Maladies Rares) coordinating 113 expert centers across France to address rare neurodevelopmental diseases and rare epilepsies. It produces National Diagnostic and Care Protocols (PNDS), Therapeutic Patient Education (ETP) programs, FALC educational materials, emergency cards, and certified training, while supporting research projects and patient associations. The entity is hosted by Hospices Civils de Lyon and mandated by the French Ministry of Health.

Product overview

DéfiScience is a national healthcare network (Filière de Santé Maladies Rares) focused on rare neurodevelopmental diseases, operating as a coordination and resource-sharing structure rather than a traditional product company. The organization's core offerings include a Documentation Center providing clinical protocols (PNDS), educational tools (Mallette FACILE Céto, Mallette RECUP'Pairs), FALC accessibility resources, and emergency cards. The Organisme de Formation DéfiScience provides Qualiopi-certified training programs for professionals, patients, and caregivers. The network also supports research through annual funding calls (Appel à Projet Recherche) and disseminates knowledge via the DéfiCast podcast. These services are interconnected, with the documentation center feeding into training programs and research initiatives, all coordinated through the central Filière structure.

Differentiator

Problem solved

Functional benefit

Brands

• OF DéfiScience (Organisme de Formation): The training organization of DéfiScience, certified Qualiopi, providing training for healthcare professionals, patients, and caregivers in the field of rare neurodevelopmental diseases.

Products and services

• Centre de Documentation Centralized documentation and resource center for rare neurodevelopmental diseases and rare epilepsies, providing healthcare professionals, patients, and families with access to reference materials, protocols, and educational content.
• OF DéfiScience (Organisme de Formation) Qualiopi-certified training organization delivering continuing education programs to healthcare professionals, patient associations, and other stakeholders involved in rare disease care.
• PNDS (Protocoles Nationaux de Diagnostic et de Soins) National Diagnostic and Care Protocols produced by the network to standardize diagnosis and treatment of rare neurodevelopmental diseases and rare epilepsies across France.
• Programmes ETP (Éducation Thérapeutique du Patient) Therapeutic Patient Education programs designed to help patients and families better understand and manage rare neurodevelopmental diseases and rare epilepsies.
• Cartes d'Urgence Emergency cards issued to rare disease patients to provide first responders and emergency medical staff with critical medical information in urgent situations.
• Documents FALC (Facile à Lire et à Comprendre) Easy-to-Read-and-Understand documents designed to make complex medical information accessible to patients, families, and individuals with cognitive disabilities.
• DéfiCast Podcast Podcast series produced by DéfiScience to share knowledge, research updates, and expert interviews on rare neurodevelopmental diseases and rare epilepsies.
• Mallette FACILE Céto Educational toolkit designed to support patients and families managing ketogenic dietary therapies for rare epilepsies, providing practical guidance and accessible resources.
• Mallette RECUP'Pairs Educational toolkit supporting patients and families in recovery and self-management of rare neurodevelopmental conditions.
• Appel à Projet Recherche Research funding calls coordinated by DéfiScience to support academic and clinical research projects in rare neurodevelopmental diseases and rare epilepsies.
• Colloques et Événements Professionnels Professional symposia and conferences (e.g., Colloque de la Transition) organized by the network to bring together clinicians, researchers, and patient associations around rare disease themes.

Quantifiable outcome

• 113 expert centres coordinated nationally across 6 thematic networks, covering all regions of France
• +4 more outcomes

Segments3 records

Ideal customer profiles3 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature5 records

Partnerships

17 partnerships are on record, tiered core, notable and minor.

• European Union (clinical trials platform)coreOthers · 5 June 2025DéfiScience publishes and maintains an interactive European clinical trials cartography, covering ongoing trials in the EU relevant to rare neurodevelopmental diseases. This tool, developed with EU-level data, enables professionals and patient associations to identify active studies by disease, population, or country and to facilitate patient referral to appropriate clinical protocols.
• BNDMR / BaMaRa (Banque Nationale de Données Maladies Rares)coreTechnology or Integration · 25 January 2024DéfiScience collaborates with the BNDMR (Banque Nationale de Données Maladies Rares) and its BaMaRa application for structured data collection on rare disease patients. The network manages data convergence projects and publishes clinical trial calls and compassionate prescription frameworks through the BNDMR system. DéfiScience published a cartography of its Clinical Investigation Centres (CIC) in 2025.
• AnDDI-Rares (Filière de santé maladies rares anomalie du développement)notableStrategic or Co-development Partner · 14 November 2023AnDDI-Rares (the French FSMR for developmental anomalies) co-organised with DéfiScience a series of 7 webinars on 'Vie affective et sexuelle des personnes vivant avec un TDI' (affective and sexual life of people living with rare NDD-associated intellectual disability), held from November 2023 to May 2024, with expert speakers from both networks and partner patient associations (ASTB, Génération 22, Fragile X France, Alliance Syndrome de Dravet, Valentin APAC, Prader-Willi France).
• Ecole des Arts Décoratifs de ParisnotableStrategic or Co-development Partner · 10 January 2023Initiated by the Centre de référence Déficience Intellectuelle de Causes Rares of Hôpital Pitié-Salpêtrière, DéfiScience partnered with 4th-year Design students at the Ecole des Arts Décoratifs de Paris to create tools facilitating the understanding of genetic mechanisms, both for consultations and patient education (ETP workshops). Students were hosted by professionals from multiple CRMR centres and met with patient association members. Restitution took place on 10 January 2023.
• ERN ITHACA (European Reference Network for Rare Intellectual Disability, Neurodevelopmental Disorders, and Congenital Malformations)coreStrategic or Co-development PartnerDéfiScience is connected to ERN ITHACA, the European Reference Network for rare intellectual disability, neurodevelopmental disorders, and congenital malformations. This partnership enables European-level collaboration on rare neurodevelopmental diseases, co-organisation of events (e.g., EuroNDD 2024 workshop in Lisbon), patient data sharing, and cross-border knowledge exchange. DéfiScience participated in the EuroNDD 2024 multidisciplinary workshop co-organised by ERN ITHACA in Lisbon.
• Patient associations (numerous)coreStrategic or Co-development PartnerDéfiScience partners with multiple patient associations including Fragile X France, Trisomie 21 France, BPAN France, ASTB (Sclérose Tubéreuse de Bourneville), Génération 22, Alliance Syndrome de Dravet, Valentin APAC, Prader-Willi France, and others. Patient associations participate in ETP programmes, research projects, awareness campaigns, training events, and governance of the network. The partnership is formalised through a Charte de partenariat document and includes representation in DéfiScience's strategic and operational activities.
• HAS (Haute Autorité de Santé)coreOthersDéfiScience works with HAS (Haute Autorité de Santé) to publish PNDS (National Diagnostic and Care Protocols) documents on the HAS website. These protocols undergo HAS review before publication and dissemination. DéfiScience also participated in translating HAS recommendations into FALC (accessible reading) format, such as the HAS recommendation on 'Engagement des usagers'.
• Alliance Maladies RaresnotableStrategic or Co-development PartnerThe Alliance Maladies Rares is the national collective of rare disease patient associations in France. DéfiScience works with the Alliance to offer 'Formation Ecouter et Soutenir' (listening and support training) to patient association volunteers, and participates in Alliance-led initiatives such as Maladies Rares Info Services and joint publications.
• Filnemus (Filière de santé maladies neuromusculaires)notableStrategic or Co-development PartnerDéfiScience collaborated with Filnemus (the French FSMR for neuromuscular diseases) on a PNDS for 'Epilepsie, stroke-like et maladies mitochondriales', jointly led by a centre from Filnemus and the Centre de référence des épilepsies rares at Necker (AP-HP).
• AnDDI-Rares (inter-filière PNDS collaboration)notableStrategic or Co-development PartnerDéfiScience partnered with AnDDI-Rares on a joint PNDS for 'Syndrome d'atrophie optique de Bosh-Boonstra-Schaaf (NR2F1)', led by the Déficiences intellectuelles de causes rares centre in Dijon (CRMR DéfiScience) in partnership with AnDDI-Rares.
• Réseau LuciolesnotableImplementation/ SI/ Consulting PartnerRéseau Lucioles provides 'Formation-action' training programmes offered through the DéfiScience documentation centre, covering 'Comportements-problèmes (CP) et handicap' and 'Troubles alimentaires et/ou de l'alimentation et handicap'. These are 2-3 day action-based training sessions for professionals in medico-social structures.
• MEEX (Ecole d'intégration neurosensorielle)minorChannel Partner/ Reseller/ DistributorMEEX (Ecole d'intégration neurosensorielle) offers a training course on neurosensory integration deployed through the DéfiScience documentation centre. The training is designed to help professionals and parents understand neurosensory integration and its impact on behaviour and learning.
• ADAO (Association de Démocratisation de l'Art Oratoire)minorChannel Partner/ Reseller/ DistributorADAO provides public speaking training offered through the DéfiScience documentation centre. The training helps association volunteers and representatives improve their presentation skills for pitching to hospitals, elected officials, media, and specialised conferences.
• EmPatientminorChannel Partner/ Reseller/ DistributorEmPatient delivers the 'Formation Ecouter et Soutenir' (listening and support training) programme proposed by Alliance Maladies Rares and offered through DéfiScience's platform. The training teaches active listening skills and support techniques for patient association volunteers.
• Institut LejeuneminorChannel Partner/ Reseller/ DistributorInstitut Lejeune provides a training course on 'Prise en charge orthophonique de l'enfant et du jeune avec DI' (speech therapy for children with intellectual disability), referenced and disseminated through the DéfiScience documentation centre for the benefit of speech therapists and related professionals.
• Hospices Civils de Lyon (HCL)coreOthersDéfiScience operates as a healthcare pathway under the administrative and structural umbrella of the Hospices Civils de Lyon (HCL), one of France's largest hospital systems. The operational team is hosted at HCL's Bâtiment Les Tilleuls site in Bron. This institutional relationship provides the structural, legal, and financial framework within which DéfiScience operates.
• Maladies Rares Info ServicesnotableStrategic or Co-development PartnerMaladies Rares Info Services is a national information and support service for rare diseases, newly equipped with a green number (numéro vert) for free access from all of France. DéfiScience participates in and promotes this service and coordinates with it for patient information dissemination. Launched on Rare Disease Day 2023 (28 February).

Scale indicators6 records

Recent moves6 records

Expansion highlights6 records

Broad incumbents

• EURORDIS – Rare Diseases Europe: EURORDIS is the European umbrella organisation for rare disease patient associations. Comparable as a pan-European patient advocacy and policy coordination body, operating at a broader scope than DéfiScience but with shared rare disease policy, patient empowerment, and cross-border coordination missions.
• Orphanet: Orphanet is the broader European reference portal for rare diseases, providing nomenclature, classifications, and an encyclopaedia of rare conditions. Comparable as a complementary infrastructure provider in the rare disease ecosystem, with overlapping content but a wider scope than DéfiScience's neurodevelopmental focus.

Direct peers

• AnDDI-Rares: AnDDI-Rares is another of France's 23 rare disease FSMRs, focused on developmental anomalies. It is directly comparable to DéfiScience as a sister national coordination network under the same Ministry of Health labelling framework, and they co-organise webinars and joint PNDS work.
• Fimatho (Filière de santé maladies rares abdomino-thoraciques): Fimatho is another of the 23 French FSMRs, focused on rare abdomino-thoracic diseases. Directly comparable as a sister FSMR sharing the same governance, funding, and coordination framework under the French Ministry of Health.
• ERN ITHACA: ERN ITHACA is the European Reference Network for rare intellectual disability, neurodevelopmental disorders, and congenital malformations — the direct European-level counterpart to DéfiScience's scope, and an explicit partner for cross-border knowledge exchange.
• Alliance Maladies Rares: Alliance Maladies Rares is the national French collective of rare disease patient associations and an explicit partner of DéfiScience (co-delivering the 'Formation Ecouter et Soutenir' programme). It is a direct peer in patient-association coordination and policy advocacy within the French rare disease ecosystem.
• Filnemus: Filnemus is the French FSMR for rare neuromuscular diseases. Comparable as a sister national rare disease pathway sharing the same funding structure, governance model, and inter-FSMR collaboration patterns with DéfiScience, including joint PNDS publications.
• BNDMR (Banque Nationale de Données Maladies Rares): BNDMR is the national rare disease patient database, operating the BaMaRa application. DéfiScience is an explicit data-contribution partner, making BNDMR a direct peer in rare disease data infrastructure and harmonised coding across the FSMR network.
• MHANDI (Filière de santé maladies rares handicap neurologique): MHANDI is the French FSMR focused on rare neurological disabilities, with thematic proximity to DéfiScience's neurodevelopmental scope. It is directly comparable as a sister FSMR coordinating expert centres and producing PNDS protocols under the same national framework.

Regional players

• Maladies Rares Info Services: Maladies Rares Info Services is the French national information and support helpline for rare diseases (with a new green number since 2023). Comparable as a France-only service organisation directly partnered with DéfiScience for patient information dissemination.

Market position

Strengths4 records

Weaknesses5 records

Competitive moat5 records

Key risks5 records

Key highlights6 records

Customer concentration

• LinkedInlinkedin.com/company/d-fiscience-fili-re-de-sant-maladies-rares

Revenue estimate

Valuation estimate

Number of profiles

Profiles7 records

Funding overview

Funding rounds

Investors

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M&A

Investments

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Frequently asked questions about DéfiScience, Filière de Santé Maladies Rares