Lille’s University Hospital



Lille’s University Hospital is a designated and active reference centre for inherited metabolic diseases, recognized by the French Rare Disease National plan (2005-2008). Reference centres are nationally recognised scientific & clinical expert institutions in order to optimise healthcare in the field of rare diseases. Each reference centre produces an annual activity report and undergoes regular internal and external audit. A permanent working group monitors the annual activity and external evaluation reports, and advises the French Ministry of Health on the renewal of the designation of reference centres. It also monitors the “national networks for rare diseases” which have been set up to enable coordination between the national IMD centres with the aim to improve innovation, efficiency and sustainability of services for IMD patients in France.
Jeanne de Flandre and Claude Huriez Hospitals are 2 of the 10 specialized hospitals of the University Campus of Lille (CHRU) for the Région Hauts de France, covering more than 8% of the French population. The CHRU of Lille contributes to the development of the regional healthcare system and is devoted to the care of patients with severe pathologies, in collaboration with the other healthcare partners of the area. Lille’s CHRU is one of the main players in the field of rare diseases. It counts with a strong technical biochemical platform, with a background in biological research and the participation in multiple local, national and international research programmes. Lille’s CHRU brings together multidisciplinary competences, including transplantation, imaging, paramedical skills, social services, rehabilitation and palliative care for patients with inherited metabolic diseases.


Lille Hospital provides the following specific treatments and interventions, resulting from the discovery of new therapies:
– Specific dietary treatment: Specialised culinary sessions are led by metabolic dieticians, according to the specific inherited metabolic disease,
– Treatment with co-factors or vitamins,
– Hematopoietic cell transplantation,
– Enzyme replacement therapy: currently available for the treatment of all kind of several lysosomal diseases. Lille’s Hospital provides the structure for i.v. administration of Aldurazyme® for the treatment of MPS I, Elaprase® for MPS II, Naglazyme® for MPS VI, Replagal® and Fabrazyme® for Fabry disease, etc…
– Organ transplantation: liver, kidney, bone marrow and/or stem cells
– Therapy by depletion of accumulated substrates (Substrate Reduction Therapy)
– Scavenger therapy
– Supplementation therapy
– Stimulation therapy
– Hemodialysis and hemodiafiltration
– Small molecules
– Home medical care
– Talk groups led by psychologists and/or clinicians
– Patient tailored orthopaedic and reeducation programs
– Psychosocial accompaniment
Key resources:
• Access to Specialized metabolic diagnostic laboratories for screening of metabolites in blood/urine/cerebrospinal fluid, enzyme diagnostics and DNA analysis
• Access to Clinical units or day care facilities providing, amongst others, enzyme replacement therapy.
• Access to Medium Care and Intensive Care units familiar with the specific pathophysiology of metabolic disorders and their management under guidance/supervision of the members of the reference centre
• Access to Specialized Diagnostics: (neuro)radiology (CT, MRI/MRS), echocardiography, neurophysiology (EEG, EMG, VEP, SEP, AEP, NCV, BERA) sleep study, behavioural study and neuropsychiatry, ophthalmology, cardiology, gastroenterology, nephrology, urology, neurology, PED audiology, swallowing study, etc
• Access to the ALD (Affections de longue durée) created by the French Ministry of Health, allowing a 100% reimbursement of the patient’s care, access to the MDPH (Maison de Personnes Handicappés) allowing supplements for daily care and third person care.

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    Dries Dobbelaere

    Lille's University Hospital

    Karine Mention-Mulliez