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.

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

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.

• Click here to access to the RaDiCo Program main page.

The aim of CDE.ai is to create, within the France Cohortes platform, a set of automatic language processing (ALP) algorithms that will enable clinical research forms to be completed semi-automatically, in particular the rare diseases minimal data set, which is currently completed manually for all patients followed up in rare disease expert centres.

Scientific and technical coordinators: Pr Guillaume ASSIÉ, Assistance Publique-Hôpitaux de Paris (APHP) Endocrinologie Cochin, University of Paris, Institut Cochin, Institut national de la santé et de la recherche médicale (INSERM), Centre national de la recherche scientifique (CNRS), and Dr Anne-Sophie JANNOT, APHP, Banque nationale des maladies rares (BNDMR), Paris.

This data management work, provided by France Cohortes, benefits from State aid managed by the Agence Nationale de la Recherche under the France 2030 programme, reference ANR-21-PMRB-0012.

BANCCO+ succeeds the BANCCO project (French National Bank of Constitutional CNVs), which aimed to create a national database of Copy Number Variations (CNVs) identified in patients through Chromosomal Microarray Analysis (CMA).
CNVs refer to gains or losses of chromosomal segments of varying sizes (from a few hundred to several million bases), which can be associated with disease.

The project focuses on diagnosing chromosomal imbalances in patients, particularly those with neurodevelopmental disorders (NDDs).

Today, the collection, annotation, and interpretation of CNVs remain challenging. BANCCO+, in connection with other international initiatives, will provide major support, especially for biologists and clinicians.

Ultimately hosted within the France Cohortes information system, BANCCO+ aims to become the most comprehensive French database on CNVs.

BANCCO+ Consortium

• Scientific Coordinator: Prof. Damien SANLAVILLE, Hospices Civils de Lyon (HCL), Lyon
• System Development Lead: Prof. Christophe BÉROUD, Aix-Marseille Université (AMU), Marseille
• Data Collection Lead: Dr. Frédéric BILAN, CHU de Poitiers, Poitiers

• https://bancco.fr/
• hcl.banccoplus-contact@chu-lyon.fr

Ce projet bénéficie d'une aide de l’État gérée par l'Agence Nationale de la Recherche au titre de France 2030 portant la référence ANR-21-PMRB-0012.

The research work carried out within the framework of MARIANNE should make it possible to identify new diagnostic and therapeutic biomarkers, develop earlier personalized care, better understand the mechanisms of autism spectrum disorder (ASD) and its various forms, and orient national policies for the care of this disorder.

• Inclusion and follow-up of 1200 families with a sibling with autism from the prenatal period (parent-baby) compared to 500 families from the general population
• Launched in July 2022 for a duration of 10 years
• Inclusion starting in March 2023

• To compare environmental exposure and development from birth to 6 years of age of children with autism spectrum disorder (ASD)/neurodevelopmental disorder (NDD) and those with normal development in a cohort study for which the data will be used to guide a large research infrastructure.
• To identify and clinically characterize cases of ASD and NDD.
• To describe the clinical course from birth to age 6 of ASD and NDD cases for different dimensions.
• To describe access to care and the care pathway of ASD and NDD cases and the modalities of management.
• To identify prenatal and perinatal risk factors for ASD and NDD related to the external exposome, such as parental health and lifestyle, socioeconomic characteristics, maternal diet during pregnancy, maternal medication use during pregnancy, pregnancy and delivery complications, and environmental chemical exposure
• To study the interactions between exposome risk factors and the genome in ASD and NDD
• To assess the medico-economic impact of ASD and NDD
• To study the impact of parental mental health, access to care and specialized interventions, socio-economic status, and education on child health and outcomes.

The project leaders are Prof. Amaria BAGHDADLI, professor of child psychiatry, head of the Center of Excellence on Autism and Neurodevelopmental Disorders in Montpellier (University and University Hospital) and also a researcher in epidemiology at the french National Institute of Health and Medical Research (Inserm) at the french Center for Research in Epidemiology and Population Health (CESP), and Dr Marie-Christine PICOT, epidemiologist (Montpellier University Hospital and Inserm CESP).

They both have recognized expertise in the setting up of cohorts and the clinical epidemiology of child development disorders. The governance bodies of the cohort include a Steering Committee, a Strategic Council, and a Scientific and Ethical Committee.

Partnership with industry, notably through its contribution to the scientific orientation, will be envisaged in a second phase of the project, after completion of the pilot study, with the support of Inserm transfert.

• MARIANNE's website

The E3N-Generation study is interested in the influence of the “exposome” - the environment in the broad sense and contemporary lifestyle on health, among people of the same family, over three generations.

• Generalist cohort - over three generations
• 140,000 participants
• Since 1990

The E3N-Generations study relies on a community of families, a family cohort that will eventually have 200,000 participants.

It extends the E3N study which has been actively following since 1990 (30 years!) 100,000 women, by inviting their children, the fathers of those children and their grandchildren to participate in turn.

E3N-E4N is one of only two epidemiological studies in the world of this magnitude bringing together families across three generations.

The members of the same family have genes, habits and living places in common. This vast community of families is a powerful research tool for unraveling what is genetic, lifestyle or environmental in our health.

The study will provide a better understanding of what exposes us to chronic diseases or protects us from them, by comparing the evolution of the health of different groups within the cohort. Researchers are interested in cancers, cardiovascular diseases, inflammatory bowel diseases, diabetes, asthma, Parkinson's disease, depression, anxiety, endometriosis, but also aging well.

The study is involved with other cohorts in research consortia to analyze such topics on a larger scale. That is the case of the European EPIC consortium on cancer (more than 500,000 subjects) and the French SAPRIS study on Covid19 (139,000 participants from 5 cohorts).

This research will make it possible to drive future public health policies and refine prevention messages.

The E3N-Generation study is led by Gianluca Severi, research director at the National Institute of Health and Medical Research (Inserm U1018-CESP). Its governance is ensured by the founding partners: Inserm, the University of Paris-Saclay, the Gustave Roussy Institute, the National League Against Cancer and the National Education General Mutual Benefit Society (MGEN).

• E3N-Generations website (EN)
• Portail Épidémiologie France (EN/FR)

Constances monitors 220,000 volunteers using an annual questionnaire, a health examination every 4 years and by annual matching with the old-age insurance and the national health data system (SNDS) databases. Creation of a biobank of 80,000 volunteers. A cohort of 400,000 persons is strictly representative of the eligible population followed in the administrative databases and makes it possible to study the effects of selection.

• Launched in 2012
• “Generalist” population cohort
• Representative sample of 220,000 adults affiliated with the general social security scheme, aged 18 to 69 at enrollment
• Open to the research and public health community

Constances is a tool for epidemiological research, due to its size, the particularly comprehensive nature of the system for monitoring and collecting highly diversified information, using several data sources, it is on the scale of the largest cohorts in the world.

Constances is a tool for public health and monitoring, designed to support the public health objectives of the National Health Insurance Fund (CNAM) and the State, in particular through a partnership with Santé Publique France (French Public Health Agency).

Constances is managed within the framework of the Joint Service Unit (UMS) 11, resulting from a partnership between Inserm, Paris Cité University (UPC), Paris-Saclay University (UPS), and Versailles Saint-Quentin-en-Yvelines University (UVSQ).

The Constances project is carried out thanks to the participation of Health Examination Centers, and with additional support from the National Health Insurance Fund (CNAM), the National Old Age Insurance Fund (Cnav), and the french Ministry of Health (General Directorate of Health). 

It is coordinated by Marie Zins, epidemiologist, research professor at UPC.

PSY-COH is a research project dedicated to the creation of a national cohort on bipolar disorders and schizophrenia. Its aim is to follow people with bipolar disorder or schizophrenia for several years, in order to characterise the stages of the disease and the associated biological markers.

• Launched in 2014
• 1,452 patients with psychotic disorders (bipolar disorders and schizophrenia)

The main aims of the PSY-COH project are:

• Identify the clinical forms (age of onset, cognitive decline, somatic comorbidities, etc.) of the diseases and validate the different stages in the evolution of the pathology (staging).
• Characterisation of patient trajectories and their evolution through the different stages of the disease, and through behavioural indicators, predictive and prognostic biomarkers.
• Estimating the use of healthcare services, the cost to society and the quality of life of patients suffering from these diseases.
• Improving early diagnosis and prevention of the mental disorders studied by identifying valid biomarkers and biosignatures (construction of bio-banks enabling ancillary research projects to be set up).
• Enable national or international academic collaborators, or industrial partners, to access the cohort or the data collected, and accelerate scientific progress in the study of these pathologies.

PSY-CO is divided into several programmes:

• PSY-COHorte-BP for monitoring patients with bipolar disorder
• PSY-COHorte-SZ for monitoring patients suffering from schizophrenia

PSY-COH is a programme run by the FondaMental Foundation, a scientific cooperation foundation which relies on the national network of FondaMental Expert Centres and a network of research laboratories (Inserm (Institut National de la Santé et de la Recherche Médicale), CEA (Commissariat à l'Energie Atomique et aux Energies), CNRS (Centre National de la Recherche Scientifique), Institut Pasteur, etc.). ), under the direction of Professor Marion Leboyer, Université Paris Est Créteil, AP-HP (Assistance Publique Hôpitaux de Paris), Inserm and the FondaMental Foundation.

• Psy-Coh website
• Portail Épidémiologie France

RaDiCo hosts 13 rare disease cohorts selected by an international jury.

These cohorts cover 67 diseases with the following objectives:

1. Describe the natural history of rare diseases
2. Identify the genes involved
3. Establish phenotype–genotype correlations
4. Elucidate pathophysiological mechanisms
5. Identify new therapeutic approaches
6. Assess societal and medico-economic impact
7. Identify patients eligible for innovative therapies

RaDiCo also provides a national operational platform. Comparable to a research infrastructure, it supports the development of rare disease e-cohorts meeting strict excellence criteria. Processes are standardized, monitored by quality indicators, and designed for scalability.

The platform enables pooling of expertise and tools necessary to build a shared database. This interoperable, cloud-based, GDPR-compliant database ensures continuous monitoring of data quality and consistency. It is also compatible with the French National Health Data System (SNDS) and the Health Data Hub (HDH).

• RaDiCo-AC-ŒIL (Profs. P. Calvas & N. Chassaing)
  National cohort on congenital eye anomalies: natural history, genetic determinants, and improvement of ocular and extra-ocular prognosis for better patient care.
• RaDiCo-COLPAC (Dr. C. Corpechot)
  National cohort on the epidemiology and clinical/genetic heterogeneity of the Low Phospholipid-Associated Cholelithiasis (LPAC) syndrome.
• RaDiCo-ECYSCO (Dr. A. Servais & Prof. P. Niaudet)
  National and European cohort on cystinosis.
• RaDiCo-DCP (Profs. B. Maitre & E. Escudier)
  Primary ciliary dyskinesias: identification of specific severity criteria and investigation of genotype–phenotype correlations.
• RaDiCo-EURBIO-Alport (Dr. L. Heidet & Prof. B. Knebelmann)
  Alport syndrome: European cohort and database for the identification of prognostic biomarkers.
• RaDiCo-GenIDA (Prof. J.-L. Mandel)
  International social network for collecting information on the natural history of rare monogenic forms of intellectual disability and/or autism.
• RaDiCo-IDMet (Profs. A. Linglart & I. Netchine)
  National and European cohort on imprinting disorders and their metabolic consequences.
• RaDiCo-MPS (Dr. B. Héron)
  National cohort on mucopolysaccharidoses in the era of specific treatments.
• RaDiCo-PID (Profs. A. Clement & V. Cottin)
  National cohort on interstitial lung diseases in children and adults.
• RaDiCo-SEDVasc (Prof. X. Jeunemaître)
  National cohort on vascular Ehlers-Danlos syndrome.

The RaDiCo research program is coordinated by Inserm (French National Institute of Health and Medical Research).

It is led by Dr. Sonia Gueguen, Unit UMR-S 933 "Genetic Diseases with Pediatric Expression", Armand Trousseau Hospital, Assistance Publique–Hôpitaux de Paris (AP-HP), Sorbonne Université.

• Portail Epidémiologie France

The Childhood Cancer Observation Platform is an infrastructure based on the National Childhood Cancer Registry. Its objective is to contribute to research on the causes and origins of pediatric cancers and on the long-term future of adults who have had cancer in childhood.

• Cohort based on the National Childhood Cancer Registry
• Includes 40,000 people who had cancer or certain benign tumors before the age of 18
• Since 2000

More specifically, the cohort provides support for multidisciplinary research aimed at better understanding:

• The long-term effects of the treatments and the remote health of the initial tumor thanks to the data of the COHOPER cohort. It is based on data from questionnaires, medical-administrative data (SNDS) and data collected by the National Childhood Cancer Registry and the PEDIART component on radiation therapy doses.
• The role of the environment close to home on the risk of cancer in children, thanks to GEOCAP data (20,000 cases, 60,000 controls)

The CCOP also integrates the BIOCAP virtual biobank providing information on tumor and non-tumor samples stored in the anatomical pathology and biology departments or in the biological resource centers.

HOPE-EPI/CCOP is led by Jacqueline Clavel, epidemiologist doctor, senior investigator at the National Institute for Health and Medical Research (Inserm), head of the epidemiology team for childhood and adolescent cancer (EPICEA) from CRESS, UMRS-1153, Inserm, University of Paris

Management is also provided by Brigitte Lacour and Claire Poulalhon, epidemiologists, Valérie Bernier-Chastagner, radiotherapist, and Frédérique Dijoud, anatomical pathologist. The HOPE-EPI/CCOP project manager is Latifa Idbrik (latifa.idbrik[at]inserm.fr).

• HOPE-EPI / CCOP web site

• Launched in 2012
• For a period of 10 years
• 21,000 patients with chronic-stage or cured hepatitis B (6,000) or C (15,000)

The cohort aims to improve knowledge about viral hepatitis. 

Initiated in 2012, the ANRS CO22 HEPATHER cohort makes it possible to study the timecourse of liver disease of patients suffering from hepatitis C or B, in the chronic phase of the disease or cured, whether they have received treatment or not. The objective is to improve knowledge and improve patient care. These patients will be followed for approximately ten years.

It includes, to date, 20,918 patients with hepatitis B or C. More than 10,000 of them have started a new direct-acting antiviral treatment for hepatitis C under Temporary Authorizations for Use (ATU) or Marketing Authorizations (AMM).

The ANRS CO22 HEPATHER cohort is promoted by the ANRS-Emerging Infectious Diseases, and falls under scientific officer Pr. Fabrice Carrat, UMR-S 1136 (IPLESP), and coordinating investigators Pr. Stanislas Pol and Dr. Helene Fontaine, APHP, Paris. It brings together hepatologists from the French Association for the Study of the Liver (AFEF).

• HEPATHER web site (FR)
• Submit a research project here (FR)
• Catalog of clinical studies based on the cohort here (FR)
• Portail Épidémiologie France (EN/FR)