Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoventilation Syndrome
Primary Purpose
Congenital Central Hypoventilation Syndrome
Status
Terminated
Phase
Phase 2
Locations
United States
Study Type
Interventional
Intervention
Desogestrel
Sponsored by
About this trial
This is an interventional treatment trial for Congenital Central Hypoventilation Syndrome
Eligibility Criteria
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
Sites / Locations
- Children's Hospital Los Angeles
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Females with CCHS > 16 years old on desogestrel
Arm Description
open label studied on drug.
Outcomes
Primary Outcome Measures
Spontaneous Ventilation
Arterial oxygen saturation of hemoglobin and end-tidal CO2 tension
Secondary Outcome Measures
Time That the Patient Maintains Adequate Ventilation
Time that the patient maintains oxygen saturation >80% and end tidal CO2 <65mm Hg
Full Information
NCT ID
NCT01500473
First Posted
December 22, 2011
Last Updated
August 31, 2023
Sponsor
Children's Hospital Los Angeles
1. Study Identification
Unique Protocol Identification Number
NCT01500473
Brief Title
Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoventilation Syndrome
Official Title
Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoventilation Syndrome
Study Type
Interventional
2. Study Status
Record Verification Date
August 2023
Overall Recruitment Status
Terminated
Why Stopped
Only one subject was studied, who did not respond.
Study Start Date
February 2012 (Actual)
Primary Completion Date
May 11, 2016 (Actual)
Study Completion Date
May 11, 2016 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Children's Hospital Los Angeles
4. Oversight
Studies a U.S. FDA-regulated Drug Product
Yes
Studies a U.S. FDA-regulated Device Product
No
Product Manufactured in and Exported from the U.S.
No
Data Monitoring Committee
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Congenital Central Hypoventilation Syndrome
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
1 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Females with CCHS > 16 years old on desogestrel
Arm Type
Experimental
Arm Description
open label studied on drug.
Intervention Type
Drug
Intervention Name(s)
Desogestrel
Other Intervention Name(s)
Reclipsen
Intervention Description
Reclipsen oral contraceptive pill with 0.03mg ethinyl estradiol and 0.15mg desogestrel
Primary Outcome Measure Information:
Title
Spontaneous Ventilation
Description
Arterial oxygen saturation of hemoglobin and end-tidal CO2 tension
Time Frame
6 hours
Secondary Outcome Measure Information:
Title
Time That the Patient Maintains Adequate Ventilation
Description
Time that the patient maintains oxygen saturation >80% and end tidal CO2 <65mm Hg
Time Frame
6 hours
10. Eligibility
Sex
Female
Minimum Age & Unit of Time
16 Years
Maximum Age & Unit of Time
50 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Iris Perez, MD
Organizational Affiliation
Children's Hospital Los Angeles
Official's Role
Principal Investigator
Facility Information:
Facility Name
Children's Hospital Los Angeles
City
Los Angeles
State/Province
California
ZIP/Postal Code
90027
Country
United States
12. IPD Sharing Statement
Learn more about this trial
Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoventilation Syndrome
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