NCT01243697

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
6

participants targeted

Target at below P25 for phase_2

Timeline
Completed

Started Apr 2011

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

November 17, 2010

Completed
1 day until next milestone

First Posted

Study publicly available on registry

November 18, 2010

Completed
4 months until next milestone

Study Start

First participant enrolled

April 1, 2011

Completed
2.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2013

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2013

Completed
Last Updated

November 14, 2013

Status Verified

October 1, 2012

Enrollment Period

2.4 years

First QC Date

November 17, 2010

Last Update Submit

November 13, 2013

Conditions

Ondine Syndrome

Keywords

DesogestrelChemosensitivity

Outcome Measures

Primary Outcomes (1)

  • Increase in the ventilatory response to hypercapnia

    112 days

Secondary Outcomes (3)

  • Ventilatory response to hypoxia

    112 days

  • Activation of new cerebral regions in fMRI

    112 days

  • Weaning from mechanical ventilation during sleep

    112 days

Study Arms (1)

desogestrel

EXPERIMENTAL

Tablets of 75 µg, once daily during 112 days

Drug: desogestrel

Interventions

desogestrelDRUG

Tablets of 75 µg, once daily during 112 days

desogestrel

Eligibility Criteria

Age10 Years - 60 Years
Sexfemale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • Ondine syndrome
  • Pubescent female

You may not qualify if:

  • Contra-indications to a treatment with desogestrel.
  • Other treatment with estrogens or progestin that cannot be stopped.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Pitie salpetriere hospital

Paris, 75013, France

Location

Related Publications (3)

  • 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.

    PMID: 38336689DERIVED

  • 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.

    PMID: 25268234DERIVED

  • 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.

    PMID: 21801857DERIVED

MeSH Terms

Conditions

Sleep Apnea, Central

Interventions

Desogestrel

Condition Hierarchy (Ancestors)

Sleep Apnea SyndromesApneaRespiration DisordersRespiratory Tract DiseasesSleep Disorders, IntrinsicDyssomniasSleep Wake DisordersNervous System Diseases

Intervention Hierarchy (Ancestors)

NorpregnenesNorpregnanesNorsteroidsSteroidsFused-Ring CompoundsPolycyclic Compounds

Study Officials

  • STRAUS Christian, MD, PhD

    Pitie Salpetriere Hospital (APHP)

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
phase 2
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 17, 2010

First Posted

November 18, 2010

Study Start

April 1, 2011

Primary Completion

September 1, 2013

Study Completion

September 1, 2013

Last Updated

November 14, 2013

Record last verified: 2012-10

Locations

FR(1)