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

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ClinicalTrials.gov Identifier: NCT01500473
Recruitment Status : Unknown
Verified February 2012 by Thomas Keens, MD, Children's Hospital Los Angeles.
Recruitment status was:  Not yet recruiting
First Posted : December 28, 2011
Last Update Posted : February 14, 2012
Information provided by (Responsible Party):
Thomas Keens, MD, Children's Hospital Los Angeles

Brief Summary:

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 or disease Intervention/treatment Phase
Congenital Central Hypoventilation Syndrome Drug: Desogestrel Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 8 participants
Allocation: N/A
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
Study Start Date : February 2012
Estimated Primary Completion Date : December 2012

Arm Intervention/treatment
Experimental: Females with CCHS > 16 years old on desogetrel Drug: Desogestrel
Reclipsen oral contraceptive pill with 0.03mg ethinyl estradiol and 0.15mg desogestrel

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

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

Information from the National Library of Medicine

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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01500473

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

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United States, California
Children's Hospital Los Angeles
Los Angeles, California, United States, 90027
Children's Hospital Los Angeles
Los Angeles, California, United States, 90027
Contact: Thomas Keens, MD    323-361-2101      
Sponsors and Collaborators
Children's Hospital Los Angeles
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Responsible Party: Thomas Keens, MD, Senior Investigator, Children's Hospital Los Angeles
ClinicalTrials.gov Identifier: NCT01500473    
Other Study ID Numbers: CCI-11-00057
First Posted: December 28, 2011    Key Record Dates
Last Update Posted: February 14, 2012
Last Verified: February 2012
Additional relevant MeSH terms:
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Sleep Apnea, Central
Pathologic Processes
Respiratory Insufficiency
Respiration Disorders
Respiratory Tract Diseases
Signs and Symptoms, Respiratory
Sleep Apnea Syndromes
Sleep Disorders, Intrinsic
Sleep Wake Disorders
Nervous System Diseases
Contraceptives, Oral, Hormonal
Contraceptives, Oral
Contraceptive Agents, Female
Contraceptive Agents
Reproductive Control Agents
Physiological Effects of Drugs
Contraceptive Agents, Hormonal
Contraceptives, Oral, Synthetic
Hormones, Hormone Substitutes, and Hormone Antagonists