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Late-onset Congenital Central Hypoventilation Syndrome and the Mutation of Phox2B Gene

NCT01225679 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 1

Last updated 2014-02-06

No results posted yet for this study

Summary

Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control characterized by ventilatory impairment that results in arterial hypoxemia. Although patients typically present this disease as newborns and rarely in later infancy, there have been reports of patients presenting with CCHS in adulthood.

The present study reports a unique familial case in which the father (proband) presented late-onset CCHS with an expansion mutation of the Phox2B gene that was confirmed by genetic analysis. Surprisingly, the proband did not report any manifestation of the disease during childhood, and the disease progressed following an insidious course until adulthood. At the time of diagnosis, he did not present signs of pulmonary hypertension and right-side heart failure. The patient responded well to nocturnal invasive ventilation. In contrast, his son presented CCHS as a newborn with the full complement of symptoms while his daughter did not.

The present report shows that CCHS cases characterized by a mutated Phox2 gene can progress without many symptoms and that the treatment approach used here was efficient for controlling the course of the disease. Furthermore, this case indicates that incomplete penetrance can occur. Genetic screening of family members is mandatory to evaluate the reproductive risk of the disease, especially because asymptomatic mutation carriers may be at high risk to develop the disease and transmit it to the next generation.

Conditions

  • Congenital Central Hypoventilation Syndrome

Interventions

DEVICE

positive airway pressure, Non-invasive mechanic ventilation

Vpap: 16 cm H2O inspiratory and 8 cm H2O expiratory pressures, 20 irpm. Mechanic ventilation: tidal volume of 850 ml; 16 irpm; inspiratory pressure of 40 mmHg; PEEP: 5 cm H2O.

Sponsors & Collaborators

  • Associação Fundo de Incentivo à Pesquisa

    lead OTHER

Principal Investigators

  • Lia Rita A Bittencourt, PhD · Universidade Federal de São Paulo/UNIFESP

Eligibility

Min Age
5 Years
Sex
MALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2010-07-31
Primary Completion
2010-07-31
Completion
2010-09-30

Countries

  • Brazil

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01225679 on ClinicalTrials.gov