Bertamino, Marta
Goldberg, David J.
Mughal, M. Zulf
Pabst, Lisa
Liao, Yaping Joyce
Sun, Lisa R.
Beckwell, Jane
Kozaric, Amina
du Moulin, Ruth
Swanner, Katie
Ferreira, Carlos R.
Ziegler, Shira G. https://orcid.org/0000-0002-3007-9755
Funding for this research was provided by:
Inozyme Pharma (Inozyme Pharma)
Article History
Received: 6 June 2025
Accepted: 12 October 2025
First Online: 19 November 2025
Declarations
:
: The study was approved by the local ethics committee of more than one institution (NCT03758534 reference number: 2017-643-f-S and NCT03478839 reference number: 18-HG-0064). Some patients were enrolled in 18-HG-0064 (“Study of people with generalized arterial calcification of infancy (GACI) or autosomal recessive hypophosphatemic rickets type 2 [ARHR2],” identifier: NCT03478839). Informed consent was obtained from all participants and/or parents/legal guardians when appropriate. This study was conducted in accordance with the Declaration of Helsinki on Biomedical Studies Involving Human Subjects.
: Consent for publication of patient images was obtained from Nitschke Y, Bertamino M, Li Q, and Kieć-Wilk B (Fig. ).
: Dr Ferreira reports a collaboration with Inozyme Pharma as part of a Cooperative Research and Development Agreement (CRADA). Dr Mughal has received fees from Inozyme Pharma for lectures & participating in advisory boards. Ms Beckwell and Ms Kozaric work for Genomenon Inc., one of the sponsors of this study. Dr du Moulin and Dr Swanner work for Inozyme Pharma, one of the sponsors of this study. Dr Bertamino has received fees from Inozyme Pharma for participating in advisory boards. Drs Sun and Ziegler were paid consultants to Inozyme. This arrangement was reviewed and approved by the Johns Hopkins University in accordance with its conflict of interest policies. The other authors declare no competing interests.