Our reference centers

An expert center in the genetics of obesity, its objective is to recognize and manage forms of obesity linked to rare diseases or genetic factors.

The adult PRADORT CRMR at Pitié-Salpêtrière, coordinated by Pr Poitou-Bernert, provides multidisciplinary management of severe or complicated obesity and rare forms of obesity for patients in Île-de-France, based on the adult and pediatric nutrition teams. He is in close contact with the endocrinology services of the IE3M, in particular within the framework of the TransEnd transition program.

The center also ensures the organization of medical and non-medical care in Ile-de-France as part of the management of these types of obesity.

At the national level, it coordinates the management of rare genetic forms of obesity through Disciplinary Consultation Meetings and its active participation in the DéfiScience sector.

The team coordinated the drafting of a Generic National Obesity Diagnosis and Care Program (PNDS) for rare causes ( https://www.has-sante.fr/jcms/p_3280217/fr/generique-obesites-de- rare-causes ).

She has developed a web-based tool to help clinicians guide genetic diagnosis Obsgen ( http://obsgen.nutriomics.org/ ).

A specific therapeutic education program for the patient (ETP) and his entourage was recently submitted to the ARS. A database of phenotypes, promoted by the AP-HP has been in place since 2020 (ClinicalTrials.gov Identifier: NCT04604626).

Pathologies monitored

• Prader-Willi syndrome and other syndromic obesity
• Monogenic obesity

Number of patients followed

The CRMR’s active file is approximately 600 adult patients

Lines of research

• New drug treatments
• Phenotyping in particular of eating behavior

The Reference Center for hereditary or rare heart diseases has been labeled since 2014 by the Ministry of Health as a center of excellence in clinical management, research and training (http://www.cardiogen.aphp. Fr). It concerns more particularly Cardiomyopathies on the one hand and Rhythm/conduction Disorders on the other hand. Collectively, these are the main causes of sudden death and heart failure in young people. The center is structured in the form of a multidisciplinary network and a technical platform to ensure optimal overall medical care. It is backed by strong research activity, particularly in connection with UMR1166_SU/Inserm.

Pathologies monitored

Number of patients followed

The Pitié-Salpêtrière coordinating site represents more than 3000 patients seen per year in consultation or hospitalization and more than 3000 genetic tests carried out per year on the diseases concerned.

The site is the co-author of treatment recommendations at a national level (National Diagnostic and Care Protocols, expert consensus) and international level (recommendations of the European Society of Cardiology, the European Society of Human Genetics).

Lines of research

Our teams coordinate and participate in numerous national and international research programs , in particular on the clinical characterization of these diseases, prognostic stratification, identification of the genetic factors involved, understanding of the physiopathology, development of new therapeutic strategies.

These programs have enabled the recruitment of large cohorts of patients (with phenotypic and genetic data), among the largest in Europe and in the world. The CRMR has also developed a collection of bioresources, in particular to generate cardiomyocytes from iPS cells.

The PRISIS network includes the Rare Diseases Reference Center (Endocrinology, Saint-Antoine Hospital, AP-HP) and 21 competence centers spread over the national territory. Its scope of expertise includes severe insulin resistance syndromes, including lipodystrophic syndromes and accelerated aging syndromes, neonatal diabetes, monogenic diabetes and syndromic diabetes in children and adults. The PRISIS network has a mission of recourse, research, expertise, teaching, training, and coordination of care in connection with the rare endocrine diseases sector (FIRENDO) and patient associations.

Number of patients followed

Active file of 150 patients followed at the Reference Center (severe insulin resistance syndromes and/or adult lipodystrophy)

Lines of research

• Clinical and metabolic characterization of severe insulin resistance and/or lipodystrophy syndromes and diagnostic aid
• Molecular bases and cellular modeling of severe insulin resistance syndromes and/or lipodystrophy
• Care pathway and patient quality of life
• Therapeutic innovation

The “Inflammatory Biliary Tract Diseases (MIVB)-H” rare disease reference center of the FILFOIE sector and the ERN Rare-Liver coordinates 31 reference or competence centres. It has a single-center database of 1,500 patients with primary biliary cholangitis, primary sclerosing cholangitis, genetic intrahepatic cholelithiasis (LPAC) or autoimmune hepatitis. It participates in major international collaborative projects in the field and has industrial partners.

This reference center brings together 5 constituent centers including that of Pitié Salpêtrière, but also centers of competence throughout France. Today, more than 2,000 patients are included in the Pitié center with rare pathologies of pituitary development or rare tumors of the hypothalamic-pituitary zone such as craniopharyngioma, but also adrenal enzymatic deficits causing congenital adrenal hyperplasia, abnormalities of sexual development or acquired ovarian pathologies such as primary ovarian insufficiency.

The center brings together 4 constituent centers including that of Pitié Salpêtrière, but also centers of competence throughout France. Nearly 2,000 patients are included in the Pitié center today, with anomalies of vaginouterine development, gynecological complications of coagulation diseases, patients with special gynecological follow-up in the context of system like lupus or histiocytosis; but also patients at the center for rare endocrine diseases of growth and development requiring special gynecological follow-up; finally, patients with rare benign breast pathologies. This center has just obtained funding for the drafting of a PNDS (National Care Program) and for the implementation of therapeutic education programs.