The PRISIS national reference center (Rare Diseases of Insulin Secretion and Insulin Sensitivity) is dedicated to the diagnosis of lipodystrophy and severe insulin resistance syndromes, the management and care of affected patients, and to translational research in the field.

The PRISIS-Saint Antoine team is affiliated to:

- Assistance Publique-Hôpitaux de Paris.Sorbonne University, Saint-Antoine Hospital, Endocrinology Department directed by Prof. Sophie Christin-Maitre, 184, Rue du Faubourg Saint-Antoine, 75012 Paris, France

- Saint-Antoine Research Centre, Inserm UMR_S938, Team “Lipodystrophy, metabolic and hormonal adaptations, and ageing” directed by Prof. Bruno Fève, Santé Sorbonne Université, Site Saint-Antoine, 27, rue Chaligny, 75012 Paris, France

Contact

Dr. Sonja Janmaat, project manager
Prof. Corinne Vigouroux, coordinator

 
Members

Medical team: Dr. Camille Vatier, Dr. Bruno Donadille, Dr. Sophie Lamothe, Prof. Corinne Vigouroux
Project manager: Dr. Sonja Janmaat
Data manager: Ms. Inès Belalem
Psychologist: Dr. Leïla Lecaque
Paramedical team from the Endocrinology Department

Website   https://endocrino-sat.aphp.fr/prisis/  

In addition to its on-site activities, our center coordinates a rare disease network which comprises 3 reference centers and 24 competence centers throughout the country aiming to decrease diagnosis delay and ensure high quality clinical care in the field of rare forms of diabetes and/or insulin resistance syndromes, from childhood to adulthood.

PRISIS is part of the French national Federation for Rare Endocrine diseases FIRENDO, and the European Endo-ERN rare disease network (MTG3).

The goals and objectives of the PRISIS reference center are:

1. To deliver high-quality clinical care for individuals with rare lipodystrophy, insulin resistance syndromes, or rare forms of diabetes. For molecular diagnosis, our team works with the Department of Genetics of Assistance Publique-Hôpitaux de Paris.Sorbonne University, Pitié-Salpêtrière Hospital, coordinated by Dr. Christine Bellanné-Chantelot.

2. To provide on-site patient training and support sessions, developed in collaboration with the French Lipodystrophy Patient Associations “AFLIP” and “Vaincre Dunnigan”, as well as expert centers from Lille, Paris-Robert Debré and La Réunion (Educational Program “Lipodystrophy from childhood to adulthood, ETP LIPEA, headed by Dr. Camille Vatier.

3. To organize national multidisciplinary concertation meetings dedicated to patient diagnosis, care, access to advanced molecular investigations including whole genome sequencing through national high output platforms (Plan France Medecine Genomique 2025), and orphan drug metreleptin indications and follow-up.

4. To develop translational research aimed at understanding the pathophysiological mechanisms of lipodystrophy/insulin resistance diseases within our research team “Lipodystrophy, metabolic and hormonal adaptations, and ageing” in Saint-Antoine Research Center, Inserm UMR_S 938. We develop cellular models for pathophysiological research through a translational approach, in conjunction with the study of patients’ collected samples.

5. To facilitate clinical care research and foster multidisciplinary partnerships aimed at improving patient care and support.

6. To disseminate knowledge to students, general practitioners, specialists, and patients; through for example publishing French National Diagnosis and Care Protocols, available on the French Health Authority website.

Publications

1.      Jachiet V, Vuillaume P, Hadjadj J, Abisror N, Auclair M, Fain O, Vigouroux C, Vatier C. New therapeutic perspectives in type B insulin resistance syndrome: efficacy of a multi-target therapy with obinutuzumab and mycophenolate mofetil in two patients with insulin-receptor autoantibodies and systemic lupus erythematosus. Diabetes Care. 2025.

2.      Lamothe S, Belalem I, Vantyghem MC, Nobecourt E, Mosbah H, Béliard S, Delemer B, Dupuis H, Vandenbroere P, Scheyer N, Amouyal C, Hadjadj S, Janmaat S, Vigouroux C, Vatier C. Safety and effectiveness in an uncontrolled setting of glucagon-like-peptide-1 receptor agonists in patients with familial partial lipodystrophy: Real-life experience from a national reference network. Diabetes Obes Metab. 2025 Jan 20. doi: 10.1111/dom.16175. Epub ahead of print. PMID: 39829337.

3.      Mosbah H, Vatier C, Andriss B, Belalem I, Delemer B, Janmaat S, Bouhnik AD, Le Collen L, Maiter D, Nobécourt E, Vantyghem MC, Vigouroux C, Dumas A. Health-related quality of life, social and psychological well-being of 109 adult patients with genetic lipodystrophy. J Clin Endocrinol Metab. 2024 Dec 5:dgae837. doi: 10.1210/clinem/dgae837. Epub ahead of print. PMID: 39657019.

4.      Vergès B, Vantyghem MC, Reznik Y, Duvillard L, Rouland A, Capel E, Vigouroux C. Hypertriglyceridemia Results From an Impaired Catabolism of Triglyceride-Rich Lipoproteins in PLIN1-Related Lipodystrophy. Arterioscler Thromb Vasc Biol. 2024 Aug;44(8):1873-1883. doi: 10.1161/ATVBAHA.124.320774. Epub 2024 Jun 20. PMID: 38899472.

5.      Donadille B, Janmaat S, Mosbah H, Belalem I, Lamothe S, Nedelcu M, Jannot AS, Christin-Maitre S, Fève B, Vatier C, Vigouroux C. Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center. Orphanet J Rare Dis. 2024 Apr 27;19(1):177. doi: 10.1186/s13023-024-03173-2. PMID: 38678257; PMCID: PMC11056061.

6.      Perge K, Capel E, Villanueva C, Gautheron J, Diallo S, Auclair M, Rondeau S, Morichon R, Brioude F, Jéru I, Rossi M, Nicolino M, Vigouroux C. Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling. Eur J Endocrinol. 2024 Feb 1;190(2):151-164. doi: 10.1093/ejendo/lvae009. PMID: 38245004.

7.      Mosbah H, Vatier C, Andriss B, Belalem I, Delemer B, Janmaat S, Jéru I, Le Collen L, Maiter D, Nobécourt E, Vantyghem MC; Network « Pathologies Rares de l’Insulino-Sécrétion et de l’Insulino-Sensibilité » (PRISIS); Vigouroux C, Dumas A. Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy. Eur J Endocrinol. 2024 Jan 3;190(1):23-33. doi: 10.1093/ejendo/lvad169. PMID: 38128113.

8.      Gosseaume C, Fournier T, Jéru I, Vignaud ML, Missotte I, Archambeaud F, Debussche X, Droumaguet C, Fève B, Grillot S, Guerci B, Hieronimus S, Horsmans Y, Nobécourt E, Pienkowski C, Poitou C, Thissen JP, Lascols O, Degrelle S, Tsatsaris V, Vigouroux C, Vatier C. Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy. Eur J Endocrinol. 2023 Mar 2;188(3):lvad023. doi: 10.1093/ejendo/lvad023. PMID: 36806620.

9.      Mosbah H, Vantyghem MC, Nobécourt E, Andreelli F, Archambeaud F, Bismuth E, Briet C, Cartigny M, Chevalier B, Donadille B, Daguenel A, Fichet M, Gautier JF, Janmaat S, Jéru I, Legagneur C, Leguier L, Maitre J, Mongeois E, Poitou C, Renard E, Reznik Y, Spiteri A, Travert F, Vergès B, Zammouri J, Vigouroux C, Vatier C. Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real-life experience from a national reference network. Diabetes Obes Metab. 2022 Aug;24(8):1565-1577. doi: 10.1111/dom.14726. Epub 2022 May 12. PMID: 35445532; PMCID: PMC9541305.

10.   Mosbah H, Donadille B, Vatier C, Janmaat S, Atlan M, Badens C, Barat P, Béliard S, Beltrand J, Ben Yaou R, Bismuth E, Boccara F, Cariou B, Chaouat M, Charriot G, Christin-Maitre S, De Kerdanet M, Delemer B, Disse E, Dubois N, Eymard B, Fève B, Lascols O, Mathurin P, Nobécourt E, Poujol-Robert A, Prevost G, Richard P, Sellam J, Tauveron I, Treboz D, Vergès B, Vermot-Desroches V, Wahbi K, Jéru I, Vantyghem MC, Vigouroux C. Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins). Orphanet J Rare Dis. 2022 Apr 19;17(Suppl 1):170. doi: 10.1186/s13023-022-02308-7. PMID: 35440056; PMCID: PMC9019936.

11.   Zammouri J, Vatier C, Capel E, Auclair M, Storey-London C, Bismuth E, Mosbah H, Donadille B, Janmaat S, Fève B, Jéru I, Vigouroux C. Molecular and Cellular Bases of Lipodystrophy Syndromes. Front Endocrinol (Lausanne). 2022 Jan 3;12:803189. doi: 10.3389/fendo.2021.803189. PMID: 35046902; PMCID: PMC8763341.

12.   Karhan AN, Zammouri J, Auclair M, Capel E, Apaydin FD, Ates F, Verpont MC, Magré J, Fève B, Lascols O, Usta Y, Jéru I, Vigouroux C. Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia. Eur J Endocrinol. 2021 Nov 10;185(6):841-854. doi: 10.1530/EJE-21-0915. PMID: 34643546.

Photo: The PRISIS rare disease reference center team of the Saint-Antoine Hospital in Paris