Assessment of Desogestrel in Ondine Syndrome

Summary

The congenital central hypoventilation syndrome (CCHS), also known as the Ondine syndrome, is a very rare genetic disorder. In contrast with healthy people, patients do not increase breathing in response to an excess of carbon dioxide (CO2). As a consequence, they do not breath sufficiently, or even stop breathing, during sleep. Their survival depends only on mechanical respiratory assistance, all life long. We have recently published two cases of recovery of a response to CO2 in patients taking desogestrel as a contraceptive pill. The goal of the study is therefore to assess the hypothesis that desogestrel will restore a respiratory response to CO2 in CCHS patients and allow them to breath sufficiently during sleep without mechanical assistance.

Timeline

Start

2011-04

Primary completion

2013-09

Completion

2013-09

Publications

• Sevoz-Couche C, Patout M, Charbit B, Similowski T, Straus C. Higher baseline heart rate variability in CCHS patients with progestin-associated recovery of hypercapnic ventilatory response. Respir Res. 2024 Feb 9;25(1):87. doi: 10.1186/s12931-023-02625-w.
• Sharman M, Gallea C, Lehongre K, Galanaud D, Nicolas N, Similowski T, Cohen L, Straus C, Naccache L. The cerebral cost of breathing: an FMRI case-study in congenital central hypoventilation syndrome. PLoS One. 2014 Sep 30;9(9):e107850. doi: 10.1371/journal.pone.0107850. eCollection 2014.
• Straus C, Similowski T. Congenital central hypoventilation syndrome and desogestrel: a call for caution: addendum to "C. Straus, H. Trang, M.H. Becquemin, P. Touraine, T. Similowski, Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel" [Respir. Physiol. Neurobiol. 171 (2010) 171-174]. Respir Physiol Neurobiol. 2011 Sep 15;178(2):357-8. doi: 10.1016/j.resp.2011.07.007. Epub 2011 Jul 23.

Drugs

Indications