Nahm, Nickolas J. http://orcid.org/0000-0002-9959-4210
Mackenzie, W. G. Stuart http://orcid.org/0000-0002-5263-4510
Mackenzie, William G. http://orcid.org/0000-0002-6847-1197
Gough, Ethan
Hashmi, S. Shahrukh http://orcid.org/0000-0001-8758-8254
Hecht, Jacqueline T. http://orcid.org/0000-0002-9087-3379
Legare, Janet M. http://orcid.org/0000-0001-6684-4909
Little, Mary Ellen
Modaff, Peggy http://orcid.org/0000-0002-0240-9630
Pauli, Richard M. http://orcid.org/0000-0003-3471-5154
Rodriguez-Buritica, David F. http://orcid.org/0000-0003-1836-9853
Serna, Maria Elena
Smid, Cory J.
Hoover-Fong, Julie http://orcid.org/0000-0002-1242-5626
Bober, Michael B. http://orcid.org/0000-0002-6178-1264
Funding for this research was provided by:
BioMarin Pharmaceutical
Alan and Kathryn Greenberg Center for Skeletal Dysplasia at Johns Hopkins University
Article History
Received: 6 September 2022
Accepted: 18 May 2023
First Online: 6 June 2023
Declarations
:
: This study was approved by the Institutional Review Boards of Johns Hopkins University, Nemours/AI DuPont Hospital for Children, McGovern Medical School, University of Texas Health, and University of Wisconsin School of Medicine and Public Health. Clinically active patients signed a consent form at their participating site. A waiver of consent was used for data inclusion for subjects lost to followup.
: Not applicable.
: This is an investigator-initiated independent research study supported, in part, by BioMarin, Inc. The data presented in this paper do not pertain to the investigational pharmaceuticals under development by BioMarin, Ascendis, Therachon, or QED. These following competing activities were reviewed and approved by our institutions. J.E.H.-F. has participated in Advisory Boards sponsored by BioMarin pertaining to achondroplasia. J.E.H.-F. has been consulted by BioMarin, Alexion, Therachon/Pfizer, QED, Innoskel and NovoNordisk for clinical issues related to achondroplasia and other genetic skeletal conditions and acts as a site principal investigator (PI) for clinical trials for BioMarin, Therachon/Pfizer and QED. M.B.B. has participated in Advisory Boards sponsored by BioMarin, consulted with BioMarin, Ascendis, Therachon/Pfizer, and QED for clinical issues related achondroplasia as well as acting as a site PI in their clinical trials. He is a member of Alexion’s Speaker’s Bureau (HPP). M.B.B. is a site PI and consultant for MedLife Discoveries (RCDP) and Ultragenyx. He is a site PI for Shire (Hunter). J.T.H. has participated in Advisory Boards pertaining to achondroplasia sponsored by BioMarin. D.R.-B. has participated in Advisory Boards pertaining to achondroplasia sponsored by BioMarin and has lectured for BioMarin. J.L. is a site PI for Ascendis and is a paid speaker for BioMarin. The other authors declare no competing interests.