The TEMPO cohort is a French longitudinal study initiated in 2009. Its objective is to investigate the influence of social and family determinants on the onset and evolution of psychological difficulties and addictive behaviors in young adults aged 22 to 35 years.

Participants had previously been surveyed in 1991 and 1999, enabling the reconstruction of long-term mental health trajectories from adolescence to adulthood.

• Understanding how social background and early psychological difficulties contribute to the development of mental health problems and addictive behaviors in adulthood.
• Documenting the mechanisms of social inequalities in mental health, which often emerge early in adult life.

The TEMPO cohort is coordinated within the Pierre Louis Institute of Epidemiology and Public Health (IPLESP), Inserm–Sorbonne Université.

• Scientific lead:
  • Maria Melchior, Inserm–Sorbonne Université, UMR-S 1136, Paris
• Main funding bodies:
  • French National Research Agency (ANR)
  • French Institute for Public Health Research (IRESP)
  • Interministerial Mission for the Fight Against Drugs and Addictive Behaviors / French National Cancer Institute (MILDT/INCA)
  • Foundation for Research in Psychiatry and Mental Health
  • Pfizer Foundation
  • British Academy
  • Institute of Social Psychiatry

Contact

cohorte.tempo@inserm.fr

• Web site (FR) : click here

FILOMENE is a nationwide pediatric cohort project in France, with prenatal recruitment, aiming to enroll 100,000 expectant parents during pregnancy and to monitor the health and development of their children into adulthood. It will establish a long-term research platform open to the scientific community, dedicated to the study of the exposome in its broadest sense (physical, chemical, biological, psychosocial, and behavioral factors, as well as endogenous factors) and its impact on health and development from the earliest stages of life. Implementing the FILOMENE cohort is part of France’s 2030 Health Innovation Plan.

• Characterize the role of early-life exposures on development and health throughout life
• Investigate the biological mechanisms underlying the effects of identified risk factors
• Address these issues among vulnerable populations (socially or medically) and in high-risk regions, thanks to the nationwide design of the cohort, including overseas departments and regions

Contribute to the development and enrichment of data on pregnancy and pediatric health, and improve how routinely collected data is Planned Data Collection Methodology

• Early maternal recruitment during pregnancy
• Active collection of data and biological samples from parents and children (urine, hair, teeth, blood, umbilical cord blood, placenta, stool, etc.) during pregnancy and up to two years after birth, covering the “first 1,000 days”
• Active, repeated collection of data and biological samples, combined with data from  national databases (the National Health Data System (SNDS), the national childhood cancer registry, other national disease registries, and regional hospital data warehouses, etc.) until early adulthood
• This methodology is inspired by existing French cohorts. You can consult their protocols and the types of data collected here:
  • EDEN
  • ELFE
  • Epipage2

Tentative Schedule

• A pilot phase will be launched in the first half of 2027 to consolidate recruitment and data collection methods
• The second phase, starting in 2028, will focus on nationwide recruitment deployment

The FILOMENE cohort is under the scientific leadership of Dr. Barbara Heude, epidemiologist and Research Director at CRESS, Inserm, and Prof. Romain Basmaci, Head of the General Pediatrics Department at Louis Mourier Hospital, in collaboration with a project team of epidemiologists and experts in mother-child cohorts.

Contact

cohorte.filomene@inserm.fr

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.

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.

• 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

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

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)

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.

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.

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.

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.

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

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.

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.”

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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.

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.

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.

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.

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.

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.