Rare Diseases
Accelerating diagnosis, structuring care pathways, and building the partnerships that change the lives of patients with rare diseases.
industry × startup collaborations
patients impacted
Who is it for? Pharmaceutical companies, medtechs, institutions and patient associations committed to rare diseases who want to reduce the diagnostic odyssey and structure high-impact AI projects.
The Challenge
In France, more than 3 million people live with a rare disease. Diagnostic odyssey — which lasts an average of 4 to 5 years — remains one of the most painful challenges for patients and their families. Beyond diagnosis, the hurdles are multiple: developing therapies for small patient populations, complex economic models, early access to treatments, and navigating a highly fragmented ecosystem of stakeholders (patient associations, reference centers, regulatory agencies, payers).
For companies that commit to this space, rare diseases represent both a major ethical responsibility and a field of genuine therapeutic and organizational innovation.
Our Approach
We work across every stage of the patient journey and the orphan therapy development cycle.
Reducing the diagnostic odyssey. We help organizations design diagnostic support tools (early detection algorithms, awareness tools for general practitioners) and structure appropriate care pathways in coordination with rare disease reference centers (CRMR) and rare disease health networks (FSMR).
Partnerships with patient associations. Patient associations play a central role in accelerating research and improving quality of life. We facilitate the building of sustainable partnerships between pharmaceutical companies and associations — co-developing registries, involving patients in trial protocols, and supporting HTA processes.
Early access and regulatory strategy. We support teams in setting up early access schemes (AAP), assembling cohort ATU dossiers, and managing early dialogue with health authorities, while anticipating the specific health-economic requirements for rare disease indications.
Our Results
Through more than 90 collaborations with ecosystem partners — diagnostic startups, patient associations, public institutions — we have helped accelerate the availability of solutions targeting populations who, without these collective efforts, would have waited far longer. These partnerships have contributed to meaningfully improving care for tens of thousands of patients.
Frequently asked questions
Why is artificial intelligence relevant to rare diseases?
AI addresses several key challenges: the diagnostic odyssey, fragmented data, lack of coordination between stakeholders, and slow access to innovation. It accelerates patient identification, improves their care, and enables precision medicine.
What are the main challenges for pharmaceutical companies?
Identifying the right AI use cases with real impact, accessing high-quality health data, coordinating partners (startups, university hospitals, institutions), meeting regulatory requirements, and maximizing the return on investment of AI projects.
Why work with Digital Pharma Lab?
Deep expertise in AI, data and digital transformation in healthcare, secure project governance at every stage, a unique ability to connect pharma, startups and university hospitals, and a clear roadmap: from intent to impact in 12 months.
