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Published on: February 14, 2022

Long-term noninvasive ventilation in children with fibrodysplasia ossificans progressiva

Domenico Paolo La Regina1, Lucie Griffon2, Clément Poirault2

  • 1Department of Maternal Child and Urological Sciences, Pediatrics Specialization, Sapienza University of Rome, Rome, Italy; AP-HP, Hôpital Necker-Enfants Malades, Pediatric Noninvasive Ventilation and Sleep Unit, Paris, France.

Respiratory Medicine
|June 4, 2026
PubMed

Insights

Fibrodysplasia ossificans progressiva (FOP) patients with scoliosis and breathing issues benefit from noninvasive ventilation (NIV). Long-term NIV improves quality of life and may extend survival, even with incomplete gas exchange correction.

Area of Science:

  • Medical Genetics
  • Pulmonology
  • Rare Diseases

Background:

  • Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder causing progressive heterotopic ossification.
  • Scoliosis and thoracic deformity affect ~65% of FOP patients, leading to restrictive lung disease and respiratory failure.
  • Sleep-disordered breathing and nocturnal hypoventilation are significant complications in FOP.

Purpose of the Study:

  • To evaluate the efficacy and impact of long-term noninvasive ventilation (NIV) in children with FOP experiencing severe scoliosis and nocturnal hypoventilation.
  • To assess the effects of NIV on sleep quality, respiratory exacerbations, quality of life, and survival in this patient cohort.

Main Methods:

  • Case series reporting on 3 children with FOP, severe scoliosis, and sleep-disordered breathing.
  • Treatment involved long-term home-based noninvasive ventilation (NIV).
  • Outcomes assessed included tolerance, compliance, sleep quality, respiratory exacerbations, quality of life, and survival.

Main Results:

  • Patients showed excellent tolerance and compliance with long-term NIV.
  • NIV led to improved sleep quality and reduced acute respiratory exacerbations requiring hospitalization.
  • A good quality of life and long-term survival were maintained, despite non-optimal correction of nocturnal hypoventilation.

Conclusions:

  • FOP patients with nocturnal hypoventilation and respiratory exacerbations should be screened for NIV.
  • Long-term NIV can improve quality of life and potentially prolong life expectancy in FOP patients.
  • NIV offers significant benefits even when complete correction of nocturnal gas exchange is not achieved.

Keywords:
Alveolar hypoventilationFibrodysplasia ossificans progressivaNoninvasive ventilationPalliative careQuality of life

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