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

• Sponsor: Children's Hospital Los Angeles (Other)
• Overall Status: Unknown status
• CT.gov ID: NCT01500473
• Collaborator: (none)
• Enrollment: 8
• Locations: 2
• Arm: 1
• Patients Per Site: 4

Study Details

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.

Condition or Disease	Intervention/Treatment	Phase
Congenital Central Hypoventilation Syndrome	Drug: Desogestrel	N/A

Study Design

• Study Type: Interventional
• Anticipated 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: Feb 1, 2012
• Anticipated Primary Completion Date: Dec 1, 2012

Arms and Interventions

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

Outcome Measures

Primary Outcome Measures

1. Minute ventilation [3 weeks]

Secondary Outcome Measures

1. Time to requirement of assisted ventilation [3 weeks]

Eligibility Criteria

Criteria

• Ages Eligible for Study: 16 Years to 50 Years
• 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

Locations

	Site	City	State	Country	Postal Code
1	Children's Hospital Los Angeles	Los Angeles	California	United States	90027
2	Children's Hospital Los Angeles	Los Angeles	California	United States	90027

Sponsors and Collaborators

• Children's Hospital Los Angeles

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• 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: Dec 28, 2011
• Last Update Posted: Feb 14, 2012
• Last Verified: Feb 1, 2012

• Additional relevant MeSH terms: Hypoventilation; Sleep Apnea, Central; Syndrome; Desogestrel

Study Results

No Results Posted as of Feb 14, 2012