Rare disease consulting for pharmaceutical companies

The Challenge

In France, more than 3 million people live with a rare disease. The diagnostic odyssey lasts an average of 4 to 5 years (4.7 years in Europe according to the EURORDIS Rare Barometer survey, published in 2024) and 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. The Alliance Maladies Rares resources are the French reference point, and the RADAR call for expressions of interest supports projects that use AI and health data for rare diseases.

Early access and regulatory strategy. We support teams in setting up early access (AAP) and compassionate access (AAC) schemes, which replaced the French ATUs on 1 July 2021, 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.