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France’s assets

Highly structured care and clinical research sectors

France has made the fight against rare diseases a public health priority since 2004. A first dedicated national plan (PNMR1) has enabled the certification of expert centers in the diagnosis and monitoring of rare diseases, an approach of excellence based on various criteria: size of the active patient file, number of annual consultations, involvement in research and progress in treatment, etc.

The PNMR2 then structured the expert centers within 23 Rare Disease health sectors. Mitochondrial diseases fall within the scope of expertise of several of these sectors, starting with Filnemus, for rare neuromuscular diseases which has 14 expert centers dedicated to mitochondrial diseases.

The PNMR3 encouraged their coordination and focused, in particular, on reducing diagnostic error, a major problem for mitochondrial diseases.

Made public in February 2025, the PNMR4 is based on four priorities:

  • improving the life and care pathway,
  • facilitating and accelerating diagnosis,
  • developing databases and biobanks,
  • and promoting access to treatments (in particular Par supporting clinical research, accelerating the implementation of clinical trials and developing new economic models in rare diseases).

Well-targeted expertise

In France, the 14 expert centers in the diagnosis and monitoring of mitochondrial diseases in children and adults are all located in University Hospitals (CHU), rich in resources and diverse skills (technical platforms, research teams, capacity to deploy trials, etc.).


These centers are organized into two networks:

  • CARAMMEL(North of France), coordinated Par a center located in Paris, at the heart of the Necker-Enfants Malades University Hospital. To contact him
  • CALISSON(South of France), coordinated Par a center located at the NICE University Hospital.To contact him

Two other networks of expert centers are also involved: OPHTARA for mitochondrial diseases with ophthalmological expression, such as Leber hereditary optic neuropathy (LHON), and NEUROGENIC for Friedreich’s ataxia.

→ The heads of the centers of these networks are listed on our interactive map.

The Filnemus network for rare neuromuscular diseases has also opened a specific email address (ET.Filnemus@ap-hm.fr) to enable promoters to propose their therapeutic trials, in adult or pediatric populations.

A large and representative patient population

All mitochondrial diseases affect tens of thousands of people in France, involve dozens of genes and hundreds of variants, resulting in very diverse clinical pictures.

Would you like to speak with the patient associations that are members of the MitoGether consortium?

Early access to innovative medicines

France created, more than 30 years ago, an accelerated access to medicines system to meet needs that were not yet met, in the case of serious or disabling illnesses, with no alternatives, when it can be shown that waiting for standard access would cause patients to lose opportunities. On July 1, 2021, the former French temporary authorization for use (ATU) system was replaced Par early access and compassionate access, which are simpler and more attractive for pharmaceutical manufacturers, to the benefit of patients.