Molecular genetics and metabolism · 2026
Attitudes of people with lived experience of hypophosphatasia (HPP) toward in-utero enzyme replacement therapy (IU-ERT) for life-threatening HPP.
СтатьяНазвание и аннотация: Перевод в очереди
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Kaushal Tanvi, Krutish Angela, Kukurudz-Gorowski Rebekah, Barker Emily, Fowler Deborah, Brand Jennifer Paulson, Goodbar Denise, Rockman-Greenberg Cheryl
Аннотация
PURPOSE: Hypophosphatasia (HPP) is a multi-system genetic disorder that affects mineralization of the skeleton and dentition. Despite the success of postnatal enzyme replacement therapy (ERT), children with life-threatening presentations (LT-HPP) experience significant morbidity, decreased quality of life, and risk of death. Recent evidence suggests that in-utero ERT (IU-ERT) may further improve outcomes; however, acceptability within the HPP community has not been assessed. This study aimed to explore patient and caregiver attitudes toward IU-ERT for LT-HPP.
METHODS: We surveyed adults with lived experience with HPP. The survey was distributed through patient advocacy organizations.
RESULTS: Ninety-two individuals completed the survey. Most participants supported availability of IU-ERT following prenatal detection of LT-HPP and further research in this area. Predominant concerns were potential risks for the baby or mother, long-term side effects, and uncertainty regarding treatment effectiveness. Frequent reasons cited for one to pursue IU-ERT were reduced disease severity, a potential cure, and reduced mortality. Potential barriers included perceived risks, uncertainty regarding safety or benefits, and financial burden.
CONCLUSIONS: Participants were supportive of further research and clinical trials for IU-ERT for LT-HPP. These results provide preliminary evidence that can be used to inform the development and implementation of IU-ERT for LT-HPP.
METHODS: We surveyed adults with lived experience with HPP. The survey was distributed through patient advocacy organizations.
RESULTS: Ninety-two individuals completed the survey. Most participants supported availability of IU-ERT following prenatal detection of LT-HPP and further research in this area. Predominant concerns were potential risks for the baby or mother, long-term side effects, and uncertainty regarding treatment effectiveness. Frequent reasons cited for one to pursue IU-ERT were reduced disease severity, a potential cure, and reduced mortality. Potential barriers included perceived risks, uncertainty regarding safety or benefits, and financial burden.
CONCLUSIONS: Participants were supportive of further research and clinical trials for IU-ERT for LT-HPP. These results provide preliminary evidence that can be used to inform the development and implementation of IU-ERT for LT-HPP.