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

NCT ID: NCT01500473

Last Updated: 2023-11-18

Basic Information

• Recruitment Status: TERMINATED
• Clinical Phase: PHASE2
• Total Enrollment: 1 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2012-02-29
• Study Completion Date: 2016-05-11

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.

Conditions

Congenital Central Hypoventilation Syndrome

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Females with CCHS > 16 years old on desogestrel

open label studied on drug.

Group Type: EXPERIMENTAL

Desogestrel

Intervention Type: DRUG

Reclipsen oral contraceptive pill with 0.03mg ethinyl estradiol and 0.15mg desogestrel

Interventions

Desogestrel

Reclipsen oral contraceptive pill with 0.03mg ethinyl estradiol and 0.15mg desogestrel

Intervention Type: DRUG

Other Intervention Names

Reclipsen

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

• Minimum Eligible Age: 16 Years
• Maximum Eligible Age: 50 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

Children's Hospital Los Angeles

OTHER

Sponsor Role: lead

Responsible Party

Iris Perez

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Iris Perez, MD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital Los Angeles

Locations

Children's Hospital Los Angeles

Los Angeles, California, United States

Countries

United States

Other Identifiers

CCI-11-00057

Identifier Type: -

Identifier Source: org_study_id