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| Name | Class |
|---|---|
| PicnicHealth | UNKNOWN |
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:
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Primary Pediatric Cohort | ≤13 years old at time of enrollment. This is an observational study. | ||
| Secondary Adolescent and Adult Cohort | ≥14 years old at time of enrollment. This is an observational study. |
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| Measure | Description | Time Frame |
|---|---|---|
| Height | sitting and standing measured in centimetres | Retrospective data and prospective data for up to 5 years starting from time of study enrolment |
| Weight | measured in kilograms | Retrospective data and prospective data for up to 5 years starting from time of study enrolment |
| Body Mass Index | measured in kg/m2 | Retrospective data and prospective data for up to 5 years starting from time of study enrolment |
| Head Circumference | measured in centimeters | Retrospective data and prospective data for up to 5 years starting from time of study enrolment |
| Annualized growth velocity (AGV) | measured in centimeters/year | 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 | Retrospective data and prospective data for up to 5 years starting from time of study enrolment |
| Surgical procedures and/or medical interventions by age | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | |
| Changes in physical functioning |
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Inclusion Criteria:
Primary Pediatric Cohort: ≤13 years old Secondary Adolescent and Adult Cohort: ≥14 years old
Exclusion Criteria:
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The primary study population will include individuals with achondroplasia regardless of their treatment status with VOXZOGO™. Whilst individuals may change status from untreated to treated during the prospective period of the study (or vice versa), for the purposes of recruitment targets they will only be counted once, based on their treated status at the point of enrollment
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Trial Specialist | Contact | 1-800-938-4587 | medinfo@bmrn.com |
| Name | Affiliation | Role |
|---|---|---|
| Medical Director, MD | BioMarin Pharmaceutical | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UCSF | Recruiting | Oakland | California | 94609 | United States |
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| ID | Term |
|---|---|
| D000130 | Achondroplasia |
| ID | Term |
|---|---|
| D004392 | Dwarfism |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
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assessed using the Mobility and Upper Extremity Patient-Reported Outcomes Measurement Information System (PROMIS) tools |
| 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) | 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 | every 6 months starting from time of study enrolment up to 5 years |
| PicnicHealth | Recruiting | San Francisco | California | 94107 | United States |
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| Johns Hopkins University (JHU) | Recruiting | Baltimore | Maryland | 21205 | United States |
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| Piedmont Health | Recruiting | Statesville | North Carolina | 28625 | United States |
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| University of Cincinnati | Recruiting | Cincinnati | Ohio | 45229 | United States |
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| Sanford Health | Recruiting | Sioux Falls | South Dakota | 57115 | United States |
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| Baylor College of Medicine | Recruiting | Houston | Texas | 77030-2316 | United States |
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| University of Wisconsin | Recruiting | Madison | Wisconsin | 53726 | United States |
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| D010009 |
| Osteochondrodysplasias |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |