AtmosR, Medetia and Institut Imagine launch collaboration to develop a treatment for Ondine syndrome

Ondine syndrome is a rare and orphan disease that affects children from birth. The main symptom is a severe respiratory failure. The PHOX2B gene, at the origin of 90% of these syndromes, was discovered in 2003 by the team of Professor Jeanne Amiel. AtmosR and Medetia - two start-ups based at Institut Imagine (Inserm/Necker-Enfants malades Hospital AP-HP/University of Paris) - are joining forces with Imagine to accelerate basic research and rapidly develop a treatment for patients. The objective of this collaboration is to identify the most promising molecules for a future therapeutic solution.

Published on 03.06.2021


Ondine syndrome, a rare disease of the autonomic nervous system

We breathe without even thinking about it, automatically, especially when we sleep. Patients with Ondine syndrome, affected by a dysfunction of the central nervous control, are unable to breathe automatically and autonomously during periods of sleep, infectious periods, and sometimes in moments of fatigue, great concentration or loss of alertness.

There is no treatment to date. Mechanical ventilatory support is mandatory and vital for the life of the patient. The syndrome can be associated with Hirschsprung's disease (a neurological disorder of intestinal motility) and other central abnormalities (heart rate, temperature, blood sugar, vision, etc.). Management involves multidisciplinary medical follow-up.  

In the vast majority of cases, this congenital disease is revealed at birth, with an incidence of 1 per 200,000 births in France. Its genetic origin in 90% of cases was established in 2003 by the Inserm/Université de Paris team of Prof. Jeanne Amiel at Hôpital Necker-Enfants malades AP-HP, now director of the laboratory of genetics and embryology of malformations at Institut Imagine, following the discovery of mutations in the PHOX2B gene.

From basic research to hope for a cure thanks to an innovative ecosystem

Institut Imagine which has been awarded the IHU and Carnot Institute labels, is a unique setting in France, whose strength lies in the fact that it brings together unique expertise - basic research laboratories, clinical research teams, technological platforms, start-ups, and industrial partners - to develop translational research focused on new therapies. Within its Lab-in-labs, a platform dedicated to partners in the pharmaceutical and industrial sector whose aim is to bring together expert physicians, researchers, and to facilitate the emergence of ambitious partnerships, Imagine has been hosting the teams of the start-up Medetia since 2018.

In its research work, AtmosR, in collaboration with Medetia, is now relying on the entire collaborative and unique ecosystem offered by Imagine to accelerate its work and identify molecules that will be the basis of therapeutic solutions for patients.

These synergies are an opportunity for Imagine, AtmosR and Medetia, as they allow us to have a platform that brings together the best technical and scientific expertise to work on a future drug. It is also an opportunity for patients suffering from Ondine's syndrome who, for the first time, see the hope of a possible treatment capable of relieving their daily lives  

Xénia Proton de la Chapelle , Founder of AtmosR