Assessment of Desogestrel in Ondine Syndrome

• Status: Completed
• Trial end date: 2013-09-01
• Target enrollment: 0
• Participant gender: Female

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.

• Phase: Phase 2/Phase 3
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Assistance Publique - Hôpitaux de Paris
• Treatments: Desogestrel

Criteria

Inclusion criteria :

• Ondine syndrome

• Pubescent female

Exclusion criteria :

• Contra-indications to a treatment with desogestrel.

• Other treatment with estrogens or progestin that cannot be stopped.