To further research on rare diseases

As part of its mission to promote medical scientific research, the Air Liquide Foundation supports projects to improve respiratory function.

Particular attention is paid to choosing programs that help to advance research on rare diseases. We take a closer look at two projects supported by the Foundation.


Treating Ondine’s curse

Ondine’s curse is a respiratory disorder that affects around 1 in every 200,000 babies in France. The Air Liquide Foundation is supporting the French national institute for health and medical research (Inserm) and Robert Debré Hospital in Paris to develop a pharmacological treatment for this rare disease.

Ondine’s curse involves a partial or total inability to breath autonomously during periods of sleep and tiredness. « Its medical name is congenital central hypoventilation syndrome, » specifies project manager Dr. Jorge Gallego. In the vast majority of cases, the syndrome is diagnosed in the first few hours following birth. « People with Ondine’s curse do not feel the lack of oxygen in the blood and do not have the reflex to deepen their breathing in order to correct these imbalances. Parents are soon alerted because infants show symptoms of cyanosis when they fall asleep, » explains Dr. Gallego. The diagnosis is then confirmed by a series of tests, but no cure currently exists. The babies then require mechanical ventilation by tracheotomy or through a facial mask when asleep, or even permanently in more serious cases. They will need this equipment their whole lives. These patients also suffer from other symptoms, including cognitive disorders, probably linked to difficulty breathing.

As the project’s manager explains, research is progressing: « The condition’s genetic origin was discovered in 2003. Since then, we have been studying the gene responsible in genetically modified mice, which reproduce the disease. » Dr. Gallego’s team now wants to conduct in vivo trials, in these mice, of molecules that have proven to be effective in vitro in cultured cells. The expected effect is an improvement in the respiratory function of genetically modified mice. If one or more of these molecules turn out to be efficient in animals, a clinical trial in humans could be considered.

The Air Liquide Foundation is financing the acquisition of small mechanical ventilators specially designed for this study on mice, as well as medical sensors.


Preventing systemic scleroderma

Systemic scleroderma is an auto-immune disease. It is generally characterized by the appearance of a progressive fibrosis of the skin and several internal organs, including the lungs. It generally leads to a hardening of these organs, called sclerosis. The Air Liquide Foundation is supporting Cochin Hospital in Paris and Paris-Descartes University in their study of the detection of this disease.

Although we are familiar with the clinical signs and the progression of systemic scleroderma, its physio-pathological mechanisms remain poorly understood due to the difficulty of accessing human lung tissue.  There is currently no cure, » explains Professor Dinh-Xuan, who is in charge of the research project, « so this disease is a real challenge« . The prevalence of systemic scleroderma is on the increase. Specialists have noted a fall in the number of renal disorders, which were the most common cause of mortality in the 1980, whereas pulmonary disorders have become the main cause due to the absence of significant therapeutic progress in the last 30 years. “That has been a real challenge for us,” remembers Professor Dinh-Xuan. “The aim of our work is not to discover the origin of scleroderma but to identify when the lungs are affected, when the signs of fibrosis first appear and it is still reversible.”

In vivo studies in mice have shown that pulmonary inflammation is the first stage of fibrosis. It is possible to detect this inflammation either by analyzing the inflamed lung cells obtained by a fibroscopy, or just by analyzing the patient’s breath for traces of nitrogen monoxide. “The presence of this gas in exhaled air is evidence of pulmonary inflammation,” explains the project manager. The research team is now attempting to prove that treating the inflammation makes it possible to avoid the development of fibrosis. It is also studying the therapeutic role of enzymes in the transmission of nitrogen monoxide* in pulmonary disorders related to systemic scleroderma. The Air Liquide Foundation has funded the acquisition of a device for measuring nitrogen monoxide concentrations in exhaled air and the molecules required to carry out the research.


* System for information transmission between cells



These two extremely interesting and innovative projects concern rare and very incapacitating diseases. It is important to be able to support the scientific teams who work to facilitate the detection of, and develop treatments for, these diseases.

Marc Lemaire
International Senior Expert, R&D Air Liquide Healthcare International, Paris-Saclay Research Center