This is an observational study of individuals with achondroplasia in the United States. The primary study population consists of pediatric individuals treated and untreated with VOXZOGO™. Study enrollment started in February 2023. The projected total duration of the study is approximately 5 years at minimum from start of study recruitment in February 2023, with the duration of individual prospective follow-up differing depending on the time of enrollment. The study duration may be extended based on decisions by the study sponsor. Data will be collected in two formats for the primary pediatric study population: 1. Participant-mediated access to electronic health records(including medical imaging, when available) which will enable retrospective and prospective collection of secondary data reflecting real-life treatment use and clinical care. . 2. Primary data collection of Clinical Outcome Assessments (COAs) and questionnaire data. Data will be collected in the following format for the adult cohort: \- Participant-mediated access to electronic health records (including medical imaging, when available) which will enable retrospective and prospective collection of secondary data reflecting real-life treatment use and clinical care. The primary study population will include approximately 150 pediatric individuals with achondroplasia regardless of their treatment status with VOXZOGO™. Individuals may change status from untreated to treated during the prospective period of the study (or vice versa) however they will only be counted once, based on their treated status at the point of enrollment. The secondary study population will include 20 adolescent and adult participants.
Study Type
OBSERVATIONAL
Enrollment
170
UCSF
Oakland, California, United States
RECRUITINGPicnicHealth
San Francisco, California, United States
RECRUITINGJohns Hopkins University (JHU)
Baltimore, Maryland, United States
RECRUITINGPiedmont Health
Statesville, North Carolina, United States
RECRUITINGUniversity of Cincinnati
Cincinnati, Ohio, United States
RECRUITINGSanford Health
Sioux Falls, South Dakota, United States
RECRUITINGBaylor College of Medicine
Houston, Texas, United States
RECRUITINGUniversity of Wisconsin
Madison, Wisconsin, United States
RECRUITINGHeight
sitting and standing measured in centimetres
Time frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment
Weight
measured in kilograms
Time frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment
Body Mass Index
measured in kg/m2
Time frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment
Head Circumference
measured in centimeters
Time frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment
Annualized growth velocity (AGV)
measured in centimeters/year
Time frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment
Medical diagnoses by age
Clinical examination and/or radiological assessment
Time frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment
Surgical procedures and/or medical interventions by age
Time frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment
Changes in physical functioning
assessed using the Mobility and Upper Extremity Patient-Reported Outcomes Measurement Information System (PROMIS) tools
Time frame: every 6 months starting from time of study enrolment up to 5 years
Changes in health-related quality of life (HRQoL)
assessed using the Pediatric Quality of Life Inventory (PedsQL)
Time frame: every 6 months starting from time of study enrolment up to 5 years
Adherence to treatment with VOXZOGO™ (vosoritide), if prescribed
assessed using a medication adherence questionnaire to capture the number of missed doses in the prior month. Parent(ObsRO) version for all participants enrolled ages 5-13 years
Time frame: every 6 months starting from time of study enrolment up to 5 years
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