An international survey of 181 parents and patients with Pompe disease and other lysosomal storage diseases (LSDs) showed favorable attitudes regarding fetal clinical trials and therapies, as published in the Orphanet Journal of Rare Diseases.

Existing therapies, in particular enzyme replacement therapy (ERT), have limitations after birth, such as problems crossing the blood-brain barrier, an inability to reduce existing disease sequelae, and the development of anti-enzyme antibodies.

Given that these problems can potentially be addressed through in utero ERT administration, the researchers sought to assess parent and patient attitudes towards this approach as part of an effort to translate preclinical studies into human clinical trials.


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“Studies assessing the experiences of parents and patients with LSDs, such as evaluating health-related quality of life, perceptions of ERT, and newborn screening for LSDs, have demonstrated that parents and patients with LSDs are amenable to engaging with the research community,” the authors wrote.

“We thus partnered with patient organizations that represent the LSDs included in our phase I clinical trial to incorporate parent and patient perspectives as we consulted with regulatory authorities and developed the clinical trial protocol for in utero ERT.”

The results revealed that most respondents would choose to continue with a pregnancy diagnosed with LSD, and most would also consider participating in clinical trials on fetal ERT. Interestingly, patients were more likely to terminate LSD pregnancy if they had access to a universal public health care system such as that in the UK.

In the US, a greater number of respondents were likely to enroll in a clinical trial for fetal ERT, possibly because clinical trials can be an affordable avenue for treatment in the absence of universal health care. The survey respondents included adults from 19 countries, and the most common diseases they or their children had were mucopolysaccharidosis types 1 and 3 and infantile-onset Pompe disease.

Reference

Schwab ME, Brown JEH, Lianoglou B, et al. Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients. Orphanet J Rare Dis. 2022;17(25). doi:10.1186/s13023-022-02178-z