Insights into the French Registry of cystic fibrosis patients
Author: Michelle Leemans (WP2 contributor)
The REMEDIA methodological approach is comprised of three main steps: data integration, experimental work, and computational analyses. To achieve data integration, six carefully selected existing cohorts and population registries are utilized. In this article, the involvement of the French registry of cystic fibrosis (CF) patients is highlighted as an example.
CF is a genetic disorder that affects the respiratory, digestive, and reproductive systems. It is caused by a mutation in the CFTR gene, which produces a defective protein that affects the balance of salt and water in the body’s cells. This, in turn, causes the production of thick, sticky mucus in the lungs, pancreas, and intestines and may lead to malnutrition, poor growth, frequent respiratory infections, and chronic lung disease.
Vaincre la Mucoviscidose is a French non-profit organization that aims to improve the lives of people with CF and find a cure for the disease. The organization was founded in 1965 and has since become a leading force in France’s fight against CF. The association is structured based on four fundamental principles: promoting healing, delivering quality care, enhancing the quality of life, and raising awareness. The majority of the resources, up to 80%, are derived from the kind support of individuals and partners.
One of the key initiatives of Vaincre la Mucoviscidose is the establishment of a longitudinal cohort of patients with CF. Created in 1992 under the name of French Cystic Fibrosis Observatory (ONM), it became the French Cystic Fibrosis Patient Registry in 2006. A longitudinal cohort involves the follow-up of a group of individuals over an extended time period, often for years or even decades, to observe changes in their health status or other variables of interest. This design allows researchers to examine how factors such as lifestyle or genetic predisposition can influence the development of certain diseases or health outcomes over time. The French registry currently includes over 7500 people with CF (about 95% of the CF patients in France) including patients of all ages, from newborns to adults, and provides valuable information about the disease’s progression and treatment. The data collected includes medical history, treatments received, and health outcomes. The registry provides researchers with a unique exhaustive and high quality database to enable studies to be carried out and to advance research.
The registry serves several purposes, including:
- Provide descriptive and analytical epidemiology;
- Facilitate the identification of priority issues and assisting in the setup of clinical trials;
- Guide patients (and parents) in personal choices and institutional partners in strategic choices;
- Evaluate healthcare practices.
The data for the registry is collected in the form of a questionnaire once a year by the CF care centres, mainly via an online tool (the MucoRegistre), allowing direct and secure data entry. The data quality controls are ensured by Vaincre la Mucoviscidose.
The registry has generated multiple scientific publications encompassing a wide range of topics, including the effects of extended medication use, screening, and survival analysis. The environmental factors have been left unexploited so far. Considering the well-documented impact of air pollution on both healthy individuals and those with existing respiratory conditions, the REMEDIA project aims to advance our understanding of the link between environmental exposure and lung disease progression by employing data such as the French registry. Furthermore, descriptive analyses and unsupervised clustering approaches will be conducted to better characterize CF phenotypes.
In addition to research, Vaincre la Mucoviscidose provides support to patients and their families. The organization funds research and treatment centres throughout France and provides financial assistance to families to cover the cost of care. They also offer educational resources to help patients and their families better understand the disease and manage their symptoms.
Overall, Vaincre la Mucoviscidose is an essential organization in the fight against CF. Their commitment to research, advocacy, and patient support has led to significant advancements in the field and improved the lives of countless individuals with the disease.
For more information concerning the French CF registry and publications: www.registredelamuco.org