25/07/2025
  • Cohortes
  • News
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetic myopathies in adults. Its name reflects the muscles it primarily affects: the face (facio-), the shoulders (scapulo-), and the upper arms (humeral).

Professor Sacconi’s team at Nice University Hospital is currently collecting data from patients with the condition to build a database hosted within the France Cohortes information system. This data collection is expected to be completed by the end of the year, with analyses – including those using artificial intelligence tools – set to begin in 2026.

In addition, work led by Professor Sacconi’s team, focused on evaluating a new therapy targeting interleukin-6 in type 1 FSHD, has been selected as a finalist for a prestigious U.S. award dedicated to supporting projects that combat the effects of aging: the FSHD bonus of the XPRIZE Healthspan 2025 challenge (click the link for more information about this prize).

 

15/07/2025
  • Cohortes
  • News
The TransEAsome team is pleased to organized a workshop on "Advances in translational research in Esophageal Atresia" that will be held on October 7th from 10 am (Paris timezone) to 6 pm (Paris timezone).

This international workshop will be held both in Lille and on Teams. It will include several sessions : bioengineering, public and patient involvement, molecular mechanism, omics, and data learning. Updates on the TransEAsome project will also be shared. 

To register : https://events.teams.microsoft.com/event/cb6c5895-82f8-42d4-a362-bbf5af…

Long term outcome of esophageal atresia: transomics profiles in adolescence

Esophageal atresia (EA), a malformation of the esophagus present at birth, is characterized by the interruption of the continuity of the esophagus, which then terminates in a blind pouch. Food or saliva cannot be carried into the stomach. It affects an average of 150 births per year in France, making it a rare disease.

Surgery is necessary to reconnect the esophagus. Although this intervention allows the vast majority of children to survive the neonatal period, health problems such as gastroesophageal reflux, difficulty eating, respiratory issues, as well as growth problems may persist throughout life

Project objectives

The objective of the project is to create a prospective cohort of adolescents aged 13/14 years, nested within the national registry of esophageal atresia (EA). In addition to clinical data, a biobank of esophageal mucosa and plasma samples will be established.

Once the clinical data has been collected and omics data (derived from the analysis of biological samples from the biobank) generated, they will be analyzed by project partners to assess the long-term outcomes of EA and to establish multi-omics profiles.

Key elements

  • Project Duration: Spanning from 2022 to 2028, allowing for a comprehensive longitudinal study.
  • Largest Adolescent Cohort with Esophageal Atresia: Aimed at assembling the largest group of adolescents with esophageal atresia worldwide, enhancing the study's statistical power and generalizability.
  • First Large-scale Omics Analysis in this Population
  • Co-creation with Patients and Parents: Collaborating with individuals born with esophageal atresia as well as their parents in designing the project, ensuring their perspectives and experiences are integrated into the research process.

Octobre 21st 2024

Participating centers

Gouvernance

  • Steering committee

    It is composed of a cross-functional team responsible for monitoring and ensuring the smooth progress of the project. It consists of:

    • Professor Frédéric Gottrand, pediatric gastroenterologist at CHU Lille
    • Dr. Mélanie Leroy, project manager at CHU de Lille
    • A representative from the research management team at CHU de Lille
    • A representative from the data management team at CHU de Lille
    • A representative from the biological resource center at CHU de Lille
    • A representative from the biostatistics team at CHU de Lille
    • A representative from the medical team caring for patients with esophageal atresia at CHU de Lille
    • A representative from partner PRISM
    • A representative from partner Go@L
    • A representative from partner Bilille
    • A representative from partner PedStart
    • A representative from AFAO
  • Scientific advisory board

    It exercises an advisory role on academic strategy, in connection with its international scientific expertise. It consists of:

    • Professor Frédéric Gottrand, pediatric gastroenterologist at CHU Lille
    • Dr. Mélanie Leroy, project manager TransEAsome
    • Professor Usha Krishnan, pediatric gastroenterologist in Sydney
    • Professor Arnaud Droit, director of the bioinformatics platform in Québec
    • Professor Simon Eaton, researcher in pediatric surgery and metabolic biochemistry in London
  • Parents' committee

    Recruited from within the AFAO (Association Française de l'Atrésie de l'Œsophage), these are parents of children born with EA, who are willing volunteers actively participating in various stages of the project's development and implementation.

  • Patients' committee

    X

  • Teenagers expert in clinical research committee

    X

Data availability

The raw data is not yet accessible but will be made available on the France Cohortes platform

This work received support from the Agence Nationale de la Recherche as part of France 2030 program under reference ANR-21-PMRB-0011, as well as funding from the IRCEM Foundation.

Foire aux questions
TransEAsome
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Foire aux questions

  • Pour les patients

    Un centre participant m'a proposé cette étude, quels sont mes droits ? 

    Vous êtes libre de refuser de participer à la recherche sans avoir à vous justifier et sans que la relation de soin existant avec l’équipe médicale ne soit altérée. 

    Vous n’êtes pas obligé de nous donner votre décision tout de suite ; vous disposez du temps que vous estimez nécessaire pour prendre votre décision. 

    En cas d’acceptation, vous pourrez revenir sur votre décision et retirer votre acceptation à tout moment, sans avoir à se justifier et sans que cela ne modifie la qualité des soins auxquels vous avez droit. Le traitement des données est basé sur le fondement de l’intérêt public.

    Dans le cadre de la recherche, un traitement de vos données personnelles sera mis en œuvre pour permettre d’analyser les résultats de l’étude au regard de l’objectif de cette dernière qui vous a été présenté. 

    A cette fin, les données médicales vous concernant ou tout autre type de données existantes pourront être transmises au Promoteur de la recherche ou aux personnes ou société agissant pour son compte ou menant des projets de recherche conjoints, en France ou à l’étranger, y compris en dehors de l’Union Européenne à condition que le pays de destination soit reconnu par les autorités françaises comme assurant un niveau de protection des données suffisant et approprié. Aucune donnée susceptible de vous identifier directement ne sera transmise. Vos données seront pseudonymisées, c’est-à-dire qu’elles seront identifiées par un numéro de code et vos initiales. Ces données pourront également, dans des conditions assurant leur confidentialité, être transmises aux autorités de santé françaises et étrangères.

    Conformément aux dispositions de la loi n° 78-17 du 6 janvier 1978 modifiée relative à l’informatique, aux fichiers et aux libertés, et au règlement européen sur la protection des données personnelles (2016/679), vous disposez des droits suivants :

    Droit d’accès : Vous pouvez à tout moment obtenir au cours ou à l’issue de la recherche, communication de vos données de santé détenues par l’investigateur ou, le cas échéant, par le médecin qui le représente. (article 12 RGPD).

    Droit à l'information : Vous disposez d'un droit d'information sur les données personnelles vous concernant collectées, traitées ou, le cas échéant, transmises à des tiers (article 15 RGPD).

    Droit à la rectification : Vous avez le droit de demander la correction des données personnelles incorrectes vous concernant (articles 16 et 19 RGPD).

    Droit d’effacement : Vous avez le droit de demander l’effacement des données personnelles vous concernant uniquement si ces données ne sont plus nécessaires aux fins pour lesquelles elles ont été collectées (articles 17 et 19 de la RGPD).

    Droit à la limitation du traitement : Sous certaines conditions, vous avez le droit de demander une limitation du traitement. Dans ce cas, vos données pourront uniquement être stockées mais pas utilisées dans le cadre du traitement.

    Droit d’opposition : Vous avez le droit de vous opposer à tout moment au traitement de vos données personnelles (article 21 RGPD). Le traitement est alors arrêté par le promoteur, sauf motifs légitimes et impérieux, ou pour la constatation, l'exercice ou la défense de droits en justice.

    Pour exercer l'un de ces droits, vous pouvez contacter le médecin investigateur de l’étude ou le délégué à la protection des données du promoteur (DPO).Vous avez également le droit de déposer une plainte auprès de la Commission Nationale Informatique et Libertés (CNIL) si vous estimez que le traitement de vos données personnelles est réalisé en violation de vos droits.

    Contact Délégué à la Protection des Données (DPO)

    CHU de Lille

    2 avenue Oscar Lambret

    59037 LILLECEDEX

    DPO@chru-lille.fr 

    Contact CNIL

    Commission Nationale de l'Informatique et des Libertés

    Adresse postale

    3 Place de Fontenoy

    TSA 80715 

    75334 PARIS CEDEX 07 

    https://www.cnil.fr/fr/plaintes 

     

    Si vous le souhaitez, vous obtiendrez communication des résultats globaux de l’étude à la fin de celle-ci, il vous suffira d’adresser un courrier précisant vos coordonnées au Docteur AUMAR, unité de gastroentérologie, hépatologie et nutrition pédiatrique, Hôpital Jeanne de Flandre, CHU de Lille, Avenue Eugène Avinée, 59037 Lille cedex.

    Vous n’aurez à supporter aucune charge financière supplémentaire du fait de votre participation à cette étude.

  • Pour les investigateurs

    Est-ce que l’endoscopie à 13-14 ans est obligatoire pour inclure un patient ? 

    Non, elle ne l’est pas . Cependant, si vous réalisez une endoscopie dans les environs (10-14 ans) de la consultation dans le cadre du soin, nous sommes intéressés de récupérer 4 copeaux des blocs de biopsies œsophagienne. 

     

    J’ai un patient qui répond au critère d’inclusion, mais qui ne figure pas sur la liste fournie par l’équipe projet. Est-ce que je peux l’inclure ? 

    Oui tout à fait. Il faut néanmoins nous contacter pour connaitre son numéro d’inclusion dans le registre (qui sera aussi son numéro d’inclusion dans TransEAsome). 

     

    A l’inverse, j’ai un patient sur la liste fournie par l’équipe projet qui ne vient plus en consultation dans notre centre. Que faire ? 

    Prévenir l’équipe projet. En fonction des cas, nous essayerons de voir si ce patient a initié un suivi dans un autre centre et pourrait y être inclus. 

     

    J’ai des difficultés pour mettre en place l’étude, je manque de ressources humaines. Que faire ? 

    Nous contacter. Notre objectif est de lever tous les freins au recrutement. Si nécessaire, nous pouvons nous déplacer dans votre centre. D’une manière générale, si vous avez un soucis, contactez-nous, nous réfléchirons à une solution ensemble. 

     

    Quels sont les documents à renvoyer après la mise en place pour être autorisé à inclure ?  

    Il faut renvoyer à Coline Chaussier la page de signature du protocole, la liste de participants à la mise en place, la délégation des taches, les CV et certificats des bonnes pratiques cliniques des personnes y figurant (hormis ceux de l’investigateur principal que nous avons déjà) et la site training log où il faut indiquer que les personnes présentes à la mise en place ont été formées par Coline Chaussier en visio. 

Preclinical approaches for the treatment of RASopathy patients through a multi-omic study of their pathophysiology using a deeply phenotyped cohort in a dedicated European registry

RASopathies are a group of genetically-driven developmental disorders characterized by constitutive activation of the RAS/MAPK signaling pathway due to mutations in a pathway protein or its regulator.

Patients with these syndromes (e.g., Noonan, Costello, Cardio-Facio-Cutaneous, CBL syndromes) share common phenotypic features: growth retardation, cardiopathy, dysmorphia, intellectual disability, skin and lymphatic abnormalities, hemostasis disorders, and malignancies such as juvenile myelomonocytic leukemia (JMML). However, there is high inter-individual variability, which remains poorly understood.

The implementation of a unified data warehouse (RASORES) linked to a virtual biobank will enable the identification of new genotype–phenotype correlations in patients with RASopathies through a cohort study on the natural history of the disease, neuropsychological and social consequences, and preclinical pathophysiological investigations.

The data warehouse, hosted by France Cohortes, will be cloned as a sub-registry for RASopathies within the ILIAD EDS (the European registry of the ERN ITHACA dedicated to developmental and neurodevelopmental disorders) and will be interoperable with other European databases.

Project objectives

By enabling new genotype–phenotype correlations, RASores will improve patient management (diagnosis, monitoring, and information for patients and families) and support personalized medicine approaches for drug development.

RASores addresses two major challenges in RASopathies (prevalence 1:2,000):

  1. Clinical: delineating rare and late-onset complications, which require systematic cohort approaches to be reliably assessed, and evaluating their psychosocial impact.
  2. Fundamental/translational: through the virtual biobank linked to the EDS, the project seeks to elucidate pathogenic mechanisms underlying cardinal features of RASopathies—a longstanding priority of the project partners.

RASopathies are potential candidates for therapies targeting RAS/MAPK signaling, yet no targeted therapy currently exists.

Governance

  • Alain VERLOES – Head of Clinical Genetics Department, APHP – Université de Paris Cité, Robert DEBRE University Hospital, Paris
  • Hélène CAVÉ – Head of Molecular Genetics Department, APHP – Université de Paris Cité, Robert DEBRE University Hospital, Paris

Contact

Claudine CHARLES, PhD – Project Manager

claudine.charles@aphp.fr 

This data management work provided by France Cohortes benefits from government support administered by the French National Research Agency (ANR) under the France 2030 program, reference ANR-21-PMRB-0010.

Partners

Partenaire de RASores
Documentations
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Remote assessment and artificial intelligence to validate new measures, biomarkers, and therapeutic targets for facioscapulohumeral muscular dystrophy (FSHD)

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetic muscular diseases (myopathies) in adults. Its name reflects the main muscles affected: the face (facio-), shoulders (scapulo-), and upper arms (humeral). (Source: Orphanet)

Project objectives

By combining all data collected from patients with FSHD and analyzing them through artificial intelligence, the team aims to create a database within the France Cohortes information system containing all the necessary clinical and biological information.

This resource will enable the development and validation of new digital measures that can be used in clinical trials and real-world studies, as well as the identification of serum biomarkers and innovative therapeutic strategies.

Governance

Scientific and Technical Lead:
Prof. Sabrina SACCONI, Head of the "Peripheral Nervous System, Muscle" unit, Reference Center for Neuromuscular Diseases, Neurosciences/Rheumatology Department, Nice University Hospital.

PROGRESS FSHD
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Towards personalized medicine in a rare genetic vascular disease: Rendu-Osler disease

Rendu-Osler disease, also known as Hereditary Hemorrhagic Telangiectasia (HHT), is a rare genetic vascular disorder. Despite significant improvements in screening and management, the disease can still severely affect patients’ quality of life and prognosis.

Project objectives

The project aims to transfer data collected over the past 15 years into the France Cohortes information system and to enrich them with complementary datasets.

Their analysis, supported by machine learning tools, will help provide new methods to identify prognostic factors and to predict patient response to treatment.

Governance

Scientific and Technical Lead:
Dr. Sophie DUPUIS-GIROD, Department of Genetics – Hôpital Femme Mère Enfant – Hospices Civils de Lyon (HCL), Reference Center for Rendu-Osler Disease, Lyon

PAMPERO
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Mitochondrial Disease database: An integrated multi-OMICS approach

What is the MITOMICS research project?

MITOMICS represents the creation of France’s first nationwide database compiling genetic and clinical data from patients with mitochondrial diseases. The goal of this database is to enhance patient care and accelerate the diagnostic process.

The project is led by a multidisciplinary scientific team—including physicians, researchers, and engineers—who bring together expertise in genetics, bioinformatics, artificial intelligence, and the human and social sciences.

Project Objective

What are mitochondrial diseases (MDs)?

Each cell contains mitochondria, which provide the energy needed for the cell to function. Their number increases in organs with high energy demand (muscles, brain, nerves, etc.).

Mitochondrial diseases are rare genetic disorders caused by the malfunctioning of these mitochondria. They encompass a wide range of conditions that can vary significantly from one another — such as MELAS syndrome, MERRF syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia.

Diagnosing these rare diseases is challenging, and patients often experience a diagnostic odyssey that can last several years.

Why create a database?

Thanks to advances in molecular diagnostic techniques — particularly next-generation sequencing (NGS), which can analyze hundreds or even all genes in an individual — genetic diagnosis of MDs has significantly improved. However, due to the genetic complexity of these diseases, and despite these advanced technologies, around 50% of patients still do not receive a molecular diagnosis.

Other available “multi-OMICS” analyses such as protein analysis (proteomics) or metabolism (metabolomics), for example, also offer valuable insights.

The MITOMICS project aims to integrate all these genetic, biological, and clinical data into a centralized database named Mitomatcher. This large dataset will be analyzed using novel bioinformatics tools and artificial intelligence.

These new technologies open up promising avenues to better understand the relationship between a genetic abnormality and the symptoms observed in patients.

Who collects and uses the data?

Data collection is based on close collaboration between 11 French diagnostic laboratories specialized in mitochondrial diseases, working together as part of the MITODIAG network (www.mitodiag.fr). Each laboratory contributes patient-derived information to the database.

These data are then made available to healthcare professionals and researchers to improve patient diagnosis and advance research into mitochondrial diseases.

To facilitate access, a dedicated web interface, Cafe Variome, has been developed within the MITOMICS project in collaboration with Prof. A. Brookes’s team at the University of Leicester (UK). This tool allows professionals to explore the data contained in the Mitomatcher database.

What is the purpose of the database?

The database is designed to be continuously maintained and updated to expand scientific knowledge and to:

  • Simplify the interpretation of genetic testing results
  • Improve patient care
  • Increase access to clinical trials
  • Optimize diagnostic strategies
  • Provide new leads for therapeutic solutions

 

However, these emerging technological strategies raise significant ethical, economic, environmental, legal, and social challenges, which may lead to complex societal transformations. These dimensions have been studied by the human and social sciences team led by Prof. S. Tirard at the University of Nantes, resulting in the publication of a 2025 (article in Médecine/Sciences) dedicated to the concept of “mitochondrial medicine.”

Mitodiag network

11 diagnostic laboratories:

  • Angers University Hospital
  • Bordeaux University Hospital
  • Caen University Hospital
  • Grenoble University Hospital
  • Lille University Hospital
  • Lyon University Hospital
  • Nice University Hospital
  • Bicêtre University Hospital - AP-HP
  • La Pitié-Salpêtrière University Hospital - AP-HP
  • Necker University Hospital - AP-HP
  • Reims University Hospital

Partners

.

Reference centers for mitochondrial diseases from childhood to adulthood

Affiliated with the rare diseases health network Filnemus and the European Reference Network (ERN) Euro-NMD.

CALISSON

 

CARAMMEL

FILNEMUS

EURO-NMD

                  Rare Diseases Health Network                                     

    

European Reference Network for the thematic grouping of rare neuromuscular diseases

Patient associations

 

Academics

 

 

 

Governance

Scientific and Technical Coordinators:

  • Prof. Vincent PROCACCIO, University of Angers and Angers University Hospital
  • Prof. Sylvie BANNWARTH, Nice University Hospital

This data management work provided by France Cohortes is supported by State funding managed by the French National Research Agency under the France 2030 program, reference ANR-21-PMRB-0012.

La « médecine mitochondriale » à l’aune du quatrième plan national maladies rares (PNMR4) L’exemple du projet MITOMICS. Clémence Guillermain, Stéphane Tirard, Sylvie Bannwarth, Vincent Procaccio médecine/sciences 2025 ; 41 : 000-000 

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Franco-German cohort study on factors associated with weight loss in amyotrophic lateral sclerosis (ALS)

Background

Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease in adults. It is highly variable in terms of clinical presentation, genetics, and neuropathology. ALS is a fatal disease that progresses inexorably within a few years of onset.

Weight loss in ALS

Extensive data have demonstrated the importance of weight loss at diagnosis and during disease progression. Recent studies have shown that weight loss is a central mechanism, occurring very early—even before motor symptoms appear.

Between one-third and two-thirds of patients experience weight loss, which is negatively associated with survival. High-calorie diets have been shown to slow weight loss and extend survival in patients with rapidly progressing ALS.

However, the pathophysiological mechanisms underlying weight loss remain unknown. Identifying these mechanisms could lead to effective therapeutic strategies to combat weight loss, thereby improving survival and quality of life in ALS patients.

FG-CoALS is an innovative, multidisciplinary project aiming to establish a large Franco-German cohort to identify markers associated with weight loss in ALS.

Study objectives

The primary objective of this study is to identify biological, genetic, and imaging markers associated with weight loss in ALS patients, and to analyze their correlations with clinical presentation.

French data from the project will be transferred to the secure France Cohortes information system, ensuring information sharing with researchers at both national and international levels, in accordance with FAIR principles.

Study design

This is an academic, prospective, multicenter study including 7 ALS reference centers in France and 2 in Germany.

  • At least 1,000 patients will be included.
  • A sub-cohort of 400 patients will undergo additional investigations.
  • Patients will be stratified into four groups according to their percentage of weight loss:
    1. No weight loss
    2. <5% weight loss
    3. 5–10% weight loss
    4. 10% weight loss

Each patient may be included in both the main cohort and the sub-cohort.

Eligibility

  • Inclusion: Any new patient diagnosed with ALS, aged over 18, managed and followed at one of the 9 participating ALS centers in France and Germany.
  • Exclusion: Patients with significant cognitive impairment or those who refuse riluzole treatment.
  • All participants must be covered by a national health insurance scheme.

FG-CoALS Consortium

ALS and motor neuron disease reference centers (France):

  • Prof. Philippe COURATIER – CHU Limoges
  • Prof. Gaelle BRUNETEAU – Pitié-Salpêtrière Hospital Group
  • Dr. Pierre-François PRADAT – Pitié-Salpêtrière Hospital Group
  • Prof. Philippe CORCIA – CHRU Tours
  • Dr. Véronique DANEL BRUNAUD – CHU Lille
  • Dr. Marie-Hélène SORIANI – CHU Nice
  • Dr. Elisa DE LA CRUZ – CHU Montpellier
  • Prof. Sharam ATTARIAN – CHU Marseille

ALS expert centers (Germany):

  • Prof. Albert LUDOLPH – University of Ulm
  • Prof. Susanne PETRI – Hannover Medical School

INSERM research teams:

  • Dr. Luc DUPUIS – U1329
  • Dr. Séverine BOILLÉE – U1127
  • Prof. Hélène BLASCO – U1253
  • Prof. Patrick VOURC’H – U1253

Governance

Sponsor: 

CHU de Limoges 

Coordinator:

  • Prof. Philippe COURATIER – Medical and Scientific Principal Investigator (ALS & Motor Neuron Diseases Reference Center, CHU Limoges)
  • Dr. Luc DUPUIS – Scientific Coordinator for biological analyses
  • Dr. Daniells ERAZO – Scientific and Methodological Lead

Steering Committee: 

Philippe COURATIER, Luc DUPUIS, Daniells ERAZO, Albert LUDOLPH, Sandra JUGE

Scientific Committee: 

Philippe COURATIER, Luc DUPUIS, Pierre-Marie PREUX, Daniells ERAZO, François SALACHAS, Séverine BOILLÉE, Pierre-François PRADAT, Patrick VOURC’H, Albert LUDOLPH, Hélène BLASCO

Contact

Sponsor : BMA- CHU DE LIMOGES  2 avenue Martin Luther King 87042 Limoges Cedex

Contact: FG-CoALS@chu-limoges.fr

This data management initiative, provided by France Cohortes, is supported by the French government through the National Research Agency (ANR) under the France 2030 program, reference ANR-21-PMRB-0012.

Incident ALS cases will be included in the participating centers in France and Germany. Patients will be stratified according to weight loss at the time of diagnosis. A prospective follow-up will be conducted every 3 months to assess disease progression and survival, with a total follow-up period of 18 months.

A minimal dataset will be collected within the cohort, including sociodemographic characteristics, neurological, respiratory, and cognitive-behavioral assessments, as well as genetic analyses (GWAS and ALS gene panel).

A sub-cohort will be established to identify additional factors, including metabolic and metabolomic markers, neurofilaments, inflammation, and imaging.

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A deep-phenotyping database using artificial intelligence to study craniofacial anomalies during development

Project objectives

FACE.S-4-KIDS is a database project focused on the scientific question of genetic heterogeneity and the variable expression of craniofacial malformations. Its goal is to enable optimal clinical management (diagnosis, prognosis) and to support personalized treatment plans, particularly surgical interventions.

Governance

Scientific and Technical Lead: Prof. Stanislas LYONNET, Imagine Institute of Genetic Diseases, Paris (IHU Imagine).

This data management initiative, provided by France Cohortes, is supported by the French government through the National Research Agency (ANR) under the France 2030 program, reference ANR-21-PMRB-0012.

FACE.S-4-KIDS
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European cystinosis cohort: new biomarkers and new therapeutic approaches

Cystinosis is a rare multisystemic disease caused by cystine accumulation, with an incidence of 1:180,000 births.
Specific treatment with cysteamine slows down renal and extra-renal complications and improves life expectancy. However, knowledge gaps remain concerning the long-term impact of therapy and follow-up.

Cohort objectives

Recently, new treatments have become available in Europe, including extended-release cysteamine and a new ophthalmic solution. Moreover, stem cell transplantation has emerged as a promising therapeutic option.

The ECYSCO cohort is a multicenter, longitudinal, non-interventional European study designed to collect homogeneous clinical and therapeutic data. It involves 27 centers in France and 4 in other European countries.

The migration and integration of the ECYSCO database into the France Cohortes information system will also make it possible to ensure interoperability with a European registry, enabling broader data sharing for research.

This well-characterized cohort is a major tool for:

  • Setting up clinical trials with innovative therapeutic strategies currently under development for cystinosis
  • Identifying eligible patients
  • Serving as a control group
  • Evaluating the efficacy and safety of treatments on disease complications

Governance

Scientific and Technical Leads:

  • Dr. Aude SERVAIS – Hôpital Necker, AP-HP, Paris
  • Prof. Patrick NIAUDET – Hôpital Necker, AP-HP, Paris
    European Reference Network (ERN) ERKNet

This data management initiative, provided by France Cohortes, is supported by the French government through the National Research Agency (ANR) under the France 2030 program, reference ANR-21-PMRB-0012.

RaDiCo - ECYSCO
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