From the 1970s, patients with respiratory failure were diagnosed and cared for by mechanical ventilation in countries with a developed healthcare system, without the cause of the disease being identified. The disease is then called Central Congenital Alveolar Hypoventilation Syndrome, or CCHS for Central Congenital Hypoventilation Syndrome.
The incidence of Ondine syndrome is 1 / 200,000 births, and its prevalence (proportion of people affected) of 1 / 500,000. However, it is likely that the proportion of the population affected by Ondine syndrome is well. more important.
There are milder forms of the disease, sometimes mistakenly referred to as sleep apnea, which actually turn out to be undiagnosed undine syndromes. It is also likely that a number of sudden infant deaths are undiagnosed ondine syndromes.
Today around 120 people have this disease in France, and more than 2,000 people worldwide.
Ondine Syndrome was first described in 1970 by Robert Mellins, but it was not until 1992 that the first work was published.
In 2003, it was finally the team of Prof. Jeanne Amiel at Necker Hospital in Paris that identified the genetic cause of Ondine syndrome, namely the heterozygous mutation of the Phox2B gene. From that date, the research teams were able to set up reliable tests making it possible to diagnose several hundred patients suffering from Ondine syndrome around the world.
Several research teams around the world and in particular in France, Italy and the United States have taken an interest in the disease. In particular, a French team led by Prof. Jean-François Brunet within the Ecole Nationale Supérieure de Paris has developed a mouse model faithfully reflecting this pathology and allowing major advances in both the understanding of the disease and its mechanisms as well as in the tests of molecules capable of reversing the pathology process.
In 2010, the team of Prof. Christian Straus, at the Pitié Salpêtrière adult reference center in Paris, published completely new results proving the recovery of certain respiratory mechanisms in 2 Ondine patients under pharmacological treatment.
At the same time, French families, at the instigation of doctors and researchers, created the Association Française du Syndrome d’Ondine (AFSO) in 1997, whose vocation is to support families, raise awareness of the disease, and develop links between families but also with doctors and researchers, and support research. Among its many actions, AFSO collects funds which are donated each year to academic research teams working to improve patient care and the search for a therapeutic solution.
In every country in the world, parents’ associations have been created to help patients. Our association is part of this worldwide network of families.