The disease is so rare and complex that its acronym is hard to pronounce. But for infants unlucky enough to be born with this lung disease, the outcome is usually fatal.
The disease is called alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV). Research indicates the disease is linked to mutations in the FOXF1 gene. Worldwide, medical experts have documented about 200 cases, but an unknown number of infants may have died without the condition ever being diagnosed, according to the National Organization for Rare Disorders.
The disease is caused by genetic variations that prevent proper blood vessel formation in the lungs. Within days or weeks after birth, infants turn blue from lack of oxygen while blood pressure spikes within their lungs. The few who survive do so by receiving extremely rare infant-sized lung transplants.
Now, a study led by experts at Cincinnati Children’s and the University of Cincinnati reports helping mice (with a FOXF1 mutation identical to human ACDMPV patients) survive longer with this deadly disease by using high-tech nanoparticles to deliver a STAT3 gene into the lungs to stimulate blood vessel growth. STAT3 is a key downstream target of FOXF1, and its delivery can correct the vascular deficiency in ACDMPV mice. Details were published online June 11, 2021, in the journal Circulation.
If these results can be matched in human studies in the years to come, the co-authors say this success could boost the pace of development for other nanoparticle-based therapies for a wide range of conditions.
scienceblog.cincinnatichild...
Circulation. Research Paper:
