Constitutional bone diseases

French national reference center for constitutional bone diseases (MOC)

Logo centre de référence des maladies osseuses MOC

Constitutional bone diseases (MOC) is linked to abnormalities in the formation and growth of the skeleton. They mainly lead to variable stature failure, possible pains and deformities. There are more than 460 constitutional bone diseases (International Classification: Mortier GR, Cohn DH, Cormier-Daire V et al, Am J Med Gen A, 2019, 179 (12): 2393-2419) some of which are more common such as achondroplasia, osteogenesis imperfecta or multiple exostoses disease.

The national rare diseases reference center (CRMR) for constitutional bone diseases (MOC) was labelled in 2004 as part of the first national rare diseases plan. It is based on multidisciplinary, medical, surgical and biological teams, historically largely involved in the diagnosis and care of these pathologies. Coordinated by professor Valérie Cormier-Daire, it was overhauled in 2017 when the CRMR was relabelled, with a new architecture. It brings together 3 activities, each with their own network: constitutional bone diseases (MOC), non-vascular Ehler-Danlos syndromes (SED NV) and fibrous dysplasia of the bones (DF).

This reference center is affiliated with the OSCAR (bone, calcium and cartilage) rare disease healthcare network and the BOND European reference network (ERN) for rare bone disorders.

Medical
team

Médecin responsable du centre de référence des maladies osseuses constitutionnelles (MOC)

Responsible physician
Pr Valérie Cormier-Daire
MD, PhD

Portrait du docteur Geneviève Baujat, médecin du centre de référence des maladie osseuses constitutionnelles

Dr Geneviève Baujat
MD

Contact us
 

Secretariat of Pr Valérie Cormier-Daire
Phone. +33 (0)1 42 19 27 13

Secretariat of Dr Geneviève Baujat
Phone. +33 (0)1 44 49 51 53
Fax : +33 (0)1 44 49 51 50

> Send an email

These numbers are also used to reach members of the CRMR during the day in case of emergency.

In case of emergency

The Necker site is a transverse unit without hospital beds. There is no emergency guard organization.

In the event of a medico-surgical emergency, we invite people to go to the Necker emergency and rapid diagnosis center (tel: +33 (0)1 44 49 42 90 / 91) or the closest medical emergency center to their place of residence.

For clinical research activity:

Investigating doctor:
Phone. +33 (0)7 85 98 09 46
ARC / TEC:
Phone. +33 (0)1 71 19 64 29 or 73
Fax +33 (0)1 44 49 51 50.

The MOC CRMR specializes in skeletal dysplasias.

It consists of 25 sites forming a network at the national level:

  • 1 coordinator site at Necker-Enfants malades hospital | Pr Valérie Cormier-Daire
  • 2 adult constituent sites:
    • Cochin hospital (AP-HP) | Pr Christian Roux
    • Lariboisière hospital (AP-HP) | Pr Martine Cohen-Solal
  • 22 competence centers

The specificity of the Necker-Enfants Malades hospital site is based on:

  • The wide range of medico-surgical and biological specialties and the technical platform of the hospital (orthopedics, neurosurgery, ENT, medical imaging, maxillofacial and stomatology surgery) allowing follow up and appropriate care.
  • A very large number of different pathologies: 236 pathologies seen over the past 12 years and more than 9,700 registered patients (BNDMR).
  • Strong diagnostic consultation and care activity: 1,489 (2017) and 1,592 (2018).
  • The hospital laboratory for molecular genetics and prenatal diagnosis (molecular genetics department, Pr Julie Steffann).
  • Close scientific cooperation in fundamental research on the molecular bases, physiopathology and therapeutic approaches of these pathologies thanks to the dedicated research team (Inserm UMR_S1163, Paris Descartes university-Sorbonne Paris Cité, institut Imagine) located in the Imagine institute and coordinated by Pr Valérie Cormier-Daire. This allows a symbiosis between clinical, therapeutic and research activity.
  • Significant clinical research activity since 2007 with, in 2018, 2 natural history studies, 6 international therapeutic trials and 1 post-marketing register.
  • A « transfer » consultation towards adulthood is organized with the two adult sites (Cochin and Lariboisière) and specific « transition » consultations at the Necker hospital with Dr Eugénie Koumakis for young people aged 15 to 18.

To this day, the main ones are:

En savoir +

The missions of the MOC reference center include the following main areas:

  • provide diagnostic expertise;
  • promote care actions and offer an adapted care path for patients and their families;
  • ensure and develop the teaching and dissemination of knowledge to the concerned health professionals ;
  • participate actively in fundamental research, clinical research and development of innovative therapies (in France and abroad);
  • promote information, communication and training for all the professionals concerned (medical, socio-educational and psychologists, health and administrative authorities) and families associations;
  • allow the link with the other CRMR, the animation and the coordination of the whole network of competence centers affiliated to the CRMR, with a very particular work in the coherence of the aforementioned missions and the missions of the OSCAR sector, in order to be in complementarity and optimization of missions;
  • promote collaborations at European level: European Reference Network on Bone Rare Diseases (ERN BOND) and International Skeletal Dysplasia Society (ISDS).
Image CRMR Moc, équipe à la une
  • Pr Valérie Cormier-Daire, head of clinical genetics and head of the reference center
  • Dr Geneviève Baujat
  • Stéphanie Philip, secretary to Prof. Cormier-Daire
  • Béatrice de Raucourt, secretary to Dr Baujat

Contact details for specialist consultations >>

The coordinating site of the reference center organizes a weekly multidisciplinary consultation meeting (RCP) within the site every Wednesday with the other sites of its national network.

To send them your request for an opinion, click here >> https://www.lestaff.com/oscar-moc

 

  1. Log in to your account or register
  2. Complete your patient’s form and submit your request
  3. You receive an email notification as soon as the notice is delivered

See the detailed tutorial (https://www.lestaff.com/tutoriel-avis-oscar)

There is a staff dedicated to requests for molecular studies in connection with the molecular genetics department every wednesday in the presence of doctor Dr Sophie Rondeau.

Other regular specific multidisciplinary consultation meetings are:

  • Monthly staff « Occipito-cervical hinge »
  • Monthly staff « MOC Radiology »
  • Quarterly staff « Fetal pathologies with skeletal disorders »

A RCP dedicated to the FMG2025 plan is also set up via the staff.

The national diagnostic and care protocols (PNDS) are good practice guidelines for rare diseases. The objective of a PNDS is to explain to the concerned professionals the optimal diagnostic and therapeutic care and the care pathway of a patient suffering from a given rare disease.

As provided for in the 2011-2014 second national rare disease plan , they are drawn up by the rare disease reference and competence centers using a method proposed by the Haute Autorité de Santé (HAS).

The PNDS include a “summary for the attending physician” section.

« Therapeutic patient education (…) aims to help patients (and their families) acquire or maintain the skills they need to best manage their lives with chronic disease » (WHO, 1998).

The Necker MOC site relies on the  « Molecular and physiopathological bases of osteochondrodysplasias » research team (Inserm UMR_S1163, Paris Descartes-Sorbonne Paris Cité university, Imagine Institute) led by Pr Valérie Cormier-Daire and dedicated to the study of the molecular mechanisms of constitutional bone diseases and the search for specific therapies.

Fundamental research

Since its creation in 1998, the research team has been working on various research projects. The main themes of the team are skeletal ciliopathies, acromelic dysplasias, multiple dislocations, osteogenesis imperfecta and bone fragility, and other pathologies of the extracellular matrix.

Other projects are also underway everywhere on different themes, including Cornelia de Lange syndrome, platyspondyl dwarfism and dyschondrosteosis.

The main research projects are funded by national public bodies (ANR, Inserm and European (EU FP7, H2020) and by the Rare Disease Foundation (FMR). Families associations also contribute to research on dedicated projects (the listing update is in progress).

>> Imagine Institute

Clinical research

The Necker MOC site has been carrying out significant clinical research activity since 2007 in the clinical genetics department of Pr Valérie Cormier-Daire. It initiates, participates and / or coordinates clinical research projects in partnership with academic institutions (PHRC, IARC) and with the pharmaceutical industries for innovative therapeutics and post-marketing registers.

The studies are coordinated by Dr Kim-Hanh Le Quan Sang (MCF, Paris-Descartes university) and URC / CIC of Necker (AP-HP).

Clinical studies with academic promotion

The MOC CRMR participates in clinical studies at European level:

  • Schmid-type metaphyseal chondrodysplasia (MCDS Therapy), Horizon 2020 project, (international collaboration).
  • Osteogenesis imperfecta (OI), European PEDSTART Network. The  MOC CRMR is the French coordinating center, C4C program (conect4children consortium).

The opening of the Necker site for these two pediatric clinical studies is scheduled for 2020.

Registers and databases

The Necker MOC site, in partnership with the Imagine Institute, develops cohorts of patients with very rare skeletal pathologies (general MOC database, OI databases, cranial cleido dysplasia (DCC), pycnodysostosis, acromelic dysplasias, skeletal ciliopathies, dwarfism platyspondylic, SATB2, transition).

It participates in national academic registers (RADICO-MPS on Morquio A syndrome, register of the French consortium on hypophosphatasia (HPP), Phenodent study on HPP) and international (IFOPA –International Fibrodysplasia Ossificans Progressiva Association).

University degree in constitutional bone diseases
Paris-Descartes university

  • Calendar: December to June
  • Pace: 3 x one-week modules in December, January and March
  • Location: Paris 15th
  • Program
    • Module 1: Introduction and diagnosis of chondrodysplasias
    • Module 2: Osteochondrodysplasias
    • Module 3: Care for MOCs and news conferences

2019

2018

2016

2014

  • XYLT1 mutations in Desbuquois dysplasia type 2.
    Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V.
    Am J Hum Genet, 2014 Mar 6, PMID: 24581741 PMCID: PMC3951945 DOI: 10.1016/j.ajhg.2014.01.020
  • Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
    Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V.
    Eur J Hum Genet, 2014 Nov, PMID: 24424121 PMCID: PMC4200423 DOI: 10.1038/ejhg.2013.288

2013

  • Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
    Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V.
    J Med Genet, 2013 Feb, PMID: 23339108 DOI: 10.1136/jmedgenet-2012-101282
  • Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
    Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, Cavalcanti DP,  Frigo A, Nitschke P, Roume J, Santos HG, Shalev SA, Superti-Furga A, Delezoide AL, Le Merrer M, Munnich A, Cormier-Daire V.
    Am J Hum Genet, 2013 Jan 10, PMID: 23273569 PMCID: PMC3542463 DOI: 10.1016/j.ajhg.2012.11.015

2012

Coordinating center

Necker-Enfants malades university hospital (AP-HP)
149 rue de Sèvres, 75015 Paris
Pr Valérie Cormier-Daire – coordinator
Dr Geneviève Baujat – PH
Clinical Genetics Department
Phone. +33 (0)1 42 19 27 13/ (0)1 44 49 51 53

2 constituent sites

Cochin hospital (AP-HP)
27, rue du Faubourg Saint-Jacques, 75014 Paris
Professor Christian Roux
Rheumatology Department
Phone. +33 (0)1 58 41 25 62

Lariboisière hospital (AP-HP)
2, rue Ambroise Paré, 75010 Paris
Pr Martine Cohen-Solal
Rheumatology Department
Phone. +33 (0)1 48 74 02 50

22 competence centers

Amiens-Picardie university hospital – South Site
1, Rond Point du Professeur Christian Cabrol, 80054 Amiens Cedex
Dr Gilles Morin
Clinical genetics and oncogenetics department
Phone. +33 (0)3 22 08 75 80

Bordeaux university hospital – GH Pellegrin
Place Amélie Raba-Léon, 33076 Bordeaux Cedex
Dr Julien Van Gils
Department of medical genetics
Phone. +33 (0)5 57 82 03 63

Caen university hospital: Côte de Nacre hospital
avenue de la Côte de Nacre, 14033 Caen Cedex 9
Dr Alexandra Desdoits
Pediatric orthopedic surgery department
Phone. +33 (0)2 31 06 44 86

Clermont-Ferrand university hospital: Estaing hospital
1, place Lucie Aubrac, 63003 Clermont-Ferrand Cedex 1
Dr Christine Francannet
Department of medical genetics
Phone. +33 (0)4 73 75 06 53

Dijon Burgundy CHU: François Mitterrand hospital
2, bd Maréchal de Lattre de Tassigny, 21000 Dijon
Dr Sébastien Moutton
Genetics center, Children’s hospital
Phone. +33 (0)3 80 29 53 13

Grenoble university hospital: North site, couple-child hospital
Quai Yermolof – Cs 10217 – 38043 GRENOBLE CEDEX 9
Professor Julien Thevenon
Clinical genetics unit
Phone. +33 (0)4 76 76 72 85

Reunion university hospital: Félix Guyon hospital, children’s pole
Allée des Topazes CS 11 021, 97405 Saint-Denis Cedex
Dr Jean-Luc Alessandri
Phone. +33 (0)2 62 90 58 31

Lille CHRU: Jeanne de Flandre hospital
Avenue Eugène Avinée, 59037 Lille Cedex
Dr Anne Dieux-Coeslier
Genetics clinic « Guy Fontaine »
Phone. +33 (0)3 20 44 49 11

Hospices civils de Lyon: GH Est, woman mother child hospital
59, Boulevard Pinel, 69677 Bron Cedex
Dr Massimiliano Rossi
Genetics department
Phone. +33 (0)4 27 85 55 73

Marseille university hospital: Timone hospital
264, rue Saint-Pierre, 13385 Marseille Cedex 5
Dr Sabine Sigaudy
Department of medical genetics
Phone. +33 (0)4 94 38 67 49

Montpellier university hospital: Arnaud de Villeneuve hospital
371, avenue du Doyen Gaston Giraud, 34295 Montpellier Cedex 5
Dr Marjolaine Willems
Medical genetics, rare diseases and personalized medicine
Phone. +33 (0)4 67 33 65 64

Nancy CHU: Brabois children’s hospital
Rue du Morvan, 54511 Vandoeuvre-Lès-Nancy cedex
Pr Pierre Journeau
Pediatric orthopedic surgery Department
Phone. +33 (0)3 83 15 47 07

Nantes university hospital: Hôtel-Dieu hospital
1, place Alexis Ricordeau, 44093 Nantes Cedex 1
Dr Bertrand Isidor
Department of medical genetics – Clinical genetics unit
Phone. +33 (0)2 40 08 32 45

Nice university hospital: Arcet hospital
151, Route de Saint-Antoine, 06200 Nice
Dr Damien Haye
Phone. +33 (0)4 92 03 62 43

CHU Paris Est – Trousseau children’s hospital (AP-HP)
26, avenue du Docteur Arnold Netter, 75012 Paris Cedex 12
Dr Véronique Forin
Pediatric physical medicine and functional rehabilitation
Phone. +33 (0)1 44 73 68 51

Poitiers CHU: Milétrie hospital
2, Rue de la Milétrie – CS 90577, 86000 Poitiers
Prof. Françoise Debiais
Rheumatology department
Phone. +33 (0)5 49 44 49 48

Rennes university hospital: South hospital
16, Boulevard de Bulgaria, 35203 Rennes Cedex 2
Dr Mélanie Fradin
Clinical genetics department
Phone. +33 (0)2 99 26 67 44

Rouen university hospital: Charles Nicolle hospital
1, Rue de Germont, 76031 Rouen Cedex
Dr Alice Goldenberg
Department of genetics – Clinical genetics unit
Phone. +33 (0)2 32 88 87 47

Saint-Etienne CHU: Bellevue hospital
25, boulevard Pasteur, 42055 Saint-Etienne Cedex 2
Dr Isabelle Courtois
Adult physical and rehabilitation medicine – spine unit
Phone. +33 (0)4 77 12 76 76

Strasbourg university hospital: Hautepierre hospital
1, Avenue Molière, 67200 Strasbourg
Dr Elise Schaeffer
Department of medical genetics
Phone. +33 (0)3 88 12 81 20

Toulouse university hospital: Children’s hospital
330, avenue de Grande Bretagne – TSA 70034, 31059 TOULOUSE CEDEX 9
Dr Thomas Edouard
Pediatrics – endocrinology, genetics and medical gynecology
Phone. +33 (0)5 34 55 85 46/56

Tours CHRU: Clocheville hospital
49, boulevard Béranger, 37044 Tours Cedex 9
Pr Thierry Odent
Department of orthopedic and trauma surgery
Phone. +33 (0)2 47 47 38 22

2021

Disease: the hope of a new treatment against dwarfism
France 3 | 05.03.2021
A new hope for people suffering from dwarfism. This is the case of Amandine, 9 years old, the first patient to benefit from a promising treatment against this genetic disease.
> Read more

Suffering from dwarfism, a 9 year old child will test a new treatment in France
Ouest France | 04.09.2021
A 9-year-old child suffering from achondroplasia will be the first person in France to use a new treatment for dwarfism.
> Read more

Affected by dwarfism, Amandine, 9 years old, will be able to grow up a little thanks to a new treatment
Au Féminin | 04.09.2021
Suffering from achondroplasia, a 9-year-old girl was able to benefit from a treatment against dwarfism, within the framework of a clinical trial led by the Necker Hospital and the Imagine Genetic Diseases Institute.
> Read more

Dwarfism: Amandine, 9 years old, tests a new treatment
Sud Ouest | 04.09.2021
Young Amandine, 9 years old, is the first child to benefit from a treatment to fight against achondroplasia, the most common form of dwarfism.
> Read more

Dwarfism: a little girl is going to test a new treatment to « grow a few centimeters ».
Midi Libre | 04.09.2021
A 9-year-old girl suffering from achondroplasia, the most common form of dwarfism, is testing for the first time in France a protocol that could allow her to grow up. The treatment is composed of infigranitig, a molecule that the child is only the thirteenth in the world to test.
> Read more

A new treatment for dwarfism tested on a child in France
Le Point | 04.09.2021
Suffering from achondroplasia, Amandine, 9 years old, is the first French child and the thirteenth in the world to benefit from this treatment, says « Le Parisien ».
> Read more

Achondroplasia: 25 years of French research to give hope to grow up
Le Parisien | 04.09.2021 | Dr Geneviève Baujat and Laurence Legeai-Mallet
At 9 years old, Amandine is the first child in France to receive a new drug against achondroplasia, the most common form of dwarfism. The discovery of the gene responsible for this disease and the molecule tested is the result of French research at the Necker Parisian hospital .
> Read more

The hope of Amandine, 9 years old, first child in France to test a new treatment against dwarfism
Le Parisien | 04.09.2021 | Laurence Legeai-Mallet
This little girl, who suffers from achondroplasia, the most common form of dwarfism, is receiving a drug designed to « break » the action of her defective gene as part of a clinical trial conducted by the Necker hospital and the Imagine Institute. She hopes to grow a few more centimeters.
> Read more

2020

Disability: experimental drug shows encouraging results in treating people with short stature
Sciences et Avenir | 12.04.2020
While a new treatment promises to lessen the impact of achondroplasia in future generations, changing the way we look at dwarfism is essential to improving the quality of life for the current generation.
> Read more

Drug makes children with dwarfism grow taller
Le Figaro | 09.21.2020
Vosoritide generated a significant growth jump in young patients treated for one year.
> Read more

People of short stature
RFI | 09.15.2020 | Pr Valérie Cormier-Daire
What are the different types of dwarfism? Are prenatal diagnoses reliable? What complications can arise? What types of care currently exist?
> Listen to the podcast

2019

New hope in the fight against dwarfism
L’Express | 06.04.2019
The achondroplasia gene was discovered in 1994. Twenty-five years later, treatments finally seem to be within reach. Visit to the Imagine Institute, in Paris.
> Read more

Contact information

Necker-Enfants malades university hospital
> Clinical genetics department

149 rue de Sèvres
75743 PARIS Cedex 15

> Pediatric welcome booklet

In Necker, the reference center for constitutional bone diseases (MOC) in brief …

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* data valid for 2019