Background: In-utero cell and gene therapies could become effective treatments for many inherited diseases. Notably, recent pre-clinical data supports that in-utero hematopoietic stem cell transplantation (IU-HSCT) can be curative for bone marrow disease in Fanconi anemia (FA) enabling preventative treatment without use of genotoxic conditioning agents or immune suppression. Given this, we surveyed patient and caregivers attitudes in the FA community toward prenatal diagnosis, treatment options, and clinical trials. Methods: A multidisciplinary team created a comprehensive survey that was electronically distributed to the FA community by the leading FA patient advocacy group. Respondents demographic, history, and treatment information was collected and their attitudes toward in-utero therapies as well as termination of FA pregnancy was analyzed using univariable ordinal logistic regression Results: 72 members from 18 countries completed the survey. 76% of respondents were willing to undergo IU-HSCT if FDA-approved while 68% were willing to enroll in a clinical trial to assess safety and efficacy of IU-HSCT or IU-gene therapy. 71% would undergo invasive testing to obtain a prenatal diagnosis of FA and 56% would be unlikely to end a pregnancy affected by FA. Conclusion: In-utero therapy is a developing alternate treatment strategy for morbid inherited diseases. The FA community responds favorably to prenatal diagnosis and therapies, encouraging efforts to advance IU-cell and gene therapy clinical trials. This work may also provide insights into attitudes of other rare inherited disease communities.

The authors have declared no competing interest.

This study was supported by a grant to A.C. from the Fanconi Cancer Foundation (formerly Fanconi Anemia Research Fund).

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The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

The survey was approved by the University of California, San Francisco Institutional Review Board (IRB#: 19-27109) of the University of California, San Francisco gave ethical approval for this work

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All data produced in the present study are available upon reasonable request to the authors