This paper is only available as a PDF. To read, Please Download here.
Abstract
Objective
To report 3 cases of adrenoleukodystrophy (ALD) in children conceived by in-vitro fertilization (IVF) and egg donation.
Design
Case report.
Patients
Patients, ages 4-5 years old, evaluated by the University of Minnesota Leukodystrophy Center, who were diagnosed with ALD after being conceived by IVF with oocytes provided by the same donor.
Intervention(s)
One patient received hematopoietic stem cell transplant (HSCT) from HLA-matched donor and one patient received autologous lentiviral corrected hematopoietic cells. The disease state in one patient was unfortunately too advanced for effective treatment to be administered.
Main Outcome Measure(s)
Progression of disease after diagnosis or treatment was observed by cerebral MRI and monitoring the development or advancement of any cognitive, adaptive, and motor deficits.
Results
Patients who received a transplant for ALD successfully experienced little to no continued progression of the disease at least 6 months to 1 year after treatment.
Conclusion
These 3 cases of transmission of ALD through oocyte donation and IVF highlight the potential need to implement more comprehensive genetic screening of gamete donors to prevent the transfer of rare, but severe genetic diseases through IVF. Further, these cases highlight limitations in carrier screening guidelines that limit reportable variants to pathogenic and likely pathogenic variants.
Keywords
Article info
Publication history
Accepted:
December 16,
2022
Received in revised form:
November 15,
2022
Received:
August 3,
2022
Publication stage
In Press Accepted ManuscriptFootnotes
Funding Statement: No funding was obtained for this study.
Disclosure Statement: PJO, AOG, and TCL are investigators on the Leni-D gene therapy trial sponsored by bluebird bio to treat patients with cerebral adrenoleukodystrophy.
Attestation Statement: The subjects in this trial have not concomitantly been involved in other randomized trials. Data regarding any of the subjects in the study has not been previously published unless specified. Data will be made available to the editors of the journal for review or query upon request.
Identification
Copyright
© 2022 The Author(s). Published by Elsevier Inc. on behalf of American Society for Reproductive Medicine.
User license
Creative Commons Attribution – NonCommercial – NoDerivs (CC BY-NC-ND 4.0) | How you can reuse 
Elsevier's open access license policy
Creative Commons Attribution – NonCommercial – NoDerivs (CC BY-NC-ND 4.0)
Permitted
For non-commercial purposes:
- Read, print & download
- Redistribute or republish the final article
- Text & data mine
- Translate the article (private use only, not for distribution)
- Reuse portions or extracts from the article in other works
Not Permitted
- Sell or re-use for commercial purposes
- Distribute translations or adaptations of the article
Elsevier's open access license policy
