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Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoventilation Syndrome

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified February 2012 by Thomas Keens, MD, Children's Hospital Los Angeles.
Recruitment status was:  Not yet recruiting
Information provided by (Responsible Party):
Thomas Keens, MD, Children's Hospital Los Angeles Identifier:
First received: December 22, 2011
Last updated: February 13, 2012
Last verified: February 2012

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of automatic control of breathing. This disease can manifest as early as birth. Patients with this disease have a fundamental lack of central drive breathing. They do not mount any responses to hypoxia or hypercapnia during sleep or wakefulness. This places them at risk of injury or death whenever they are not consciously breathing. They require lifelong assisted ventilation while sleeping, and some while awake. Progesterone is a known respiratory stimulant in normal individuals, and it has been shown in one study of 2 patients that this drug may improve CO2 responsiveness in patients with CCHS. However, this observation requires confirmation.

Hypothesis: Exogenous progesterone (in oral contraception pills) will improve CO2 responsivity by hyperoxic hypercapnic ventilatory response testing, hypoxic responsivity using 5-breath nitrogen breathing, hyperoxic ventilatory response while breathing 100% oxygen, and improve spontaneous ventilation during sleep in CCHS females >15-years of age. The progesterone will also depress ventilatory response using a hyperoxia test.

Study Methodology: Baseline measures of CO2 and oxygen responsivity, and spontaneous ventilation during sleep, will be performed at baseline and after 3-weeks of taking a progesterone containing oral contraceptive agent. CO2 responsivity will be measured using a hyperoxic hypercapnic ventilatory response test. Hypoxic responsivity will be measured using a 5-breath 100% nitrogen breathing test. Hyperoxic responsivity will be measured by having subjects breathe 100% oxygen for 2-minutes. Subjects will perform an overnight polysomnogram to assess adequacy of gas exchange during spontaneous breathing while asleep. A progesterone containing oral contraception pill will then be given for 3-weeks, and the above measures repeated. Serum progesterone will be measured at baseline and at the time of study.

Condition Intervention
Congenital Central Hypoventilation Syndrome Drug: Desogestrel

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Single (Participant)
Primary Purpose: Treatment
Official Title: Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoventilation Syndrome

Resource links provided by NLM:

Further study details as provided by Thomas Keens, MD, Children's Hospital Los Angeles:

Primary Outcome Measures:
  • Minute ventilation [ Time Frame: 3 weeks ]

Secondary Outcome Measures:
  • Time to requirement of assisted ventilation [ Time Frame: 3 weeks ]

Estimated Enrollment: 8
Study Start Date: February 2012
Estimated Primary Completion Date: December 2012 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Females with CCHS > 16 years old on desogetrel Drug: Desogestrel
Reclipsen oral contraceptive pill with 0.03mg ethinyl estradiol and 0.15mg desogestrel


Ages Eligible for Study:   16 Years to 50 Years   (Child, Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • diagnosed congenital central hypoventilation syndrome (CCHS)
  • female
  • greater than or equal to 16 years of age

Exclusion Criteria:

  • less than 16 years of age
  • male
  • pregnant
  • poor adherence to medications
  • inability to perform pulmonary maneuvers for tests
  • contraindications to oral contraceptives
  • pulmonary hypertension
  Contacts and Locations
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Please refer to this study by its identifier: NCT01500473

Contact: Thomas Keens, MD 323-361-2101
Contact: Douglas LI, MD 323-361-2101

United States, California
Children's Hospital Los Angeles
Los Angeles, California, United States, 90027
Children's Hospital Los Angeles Not yet recruiting
Los Angeles, California, United States, 90027
Contact: Thomas Keens, MD    323-361-2101      
Sponsors and Collaborators
Children's Hospital Los Angeles
  More Information

Responsible Party: Thomas Keens, MD, Senior Investigator, Children's Hospital Los Angeles Identifier: NCT01500473     History of Changes
Other Study ID Numbers: CCI-11-00057
Study First Received: December 22, 2011
Last Updated: February 13, 2012

Additional relevant MeSH terms:
Sleep Apnea, Central
Pathologic Processes
Respiratory Insufficiency
Respiration Disorders
Respiratory Tract Diseases
Signs and Symptoms, Respiratory
Signs and Symptoms
Sleep Apnea Syndromes
Sleep Disorders, Intrinsic
Sleep Wake Disorders
Nervous System Diseases
Contraceptives, Oral, Synthetic
Contraceptives, Oral
Contraceptive Agents, Female
Contraceptive Agents
Reproductive Control Agents
Physiological Effects of Drugs
Hormones, Hormone Substitutes, and Hormone Antagonists processed this record on September 21, 2017