Clinical trials

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 111-903 will generate baseline growth data in children with ISS by collecting growth measurements and other variables of interest.

Study 165-401 is a Phase 4, open-label study designed to examine the concomitant use of methotrexate (MTX) to suppress immune responses to Palynziq and improve tolerability and efficacy in adults with PKU.

This is a multicenter, multinational, randomized, active-controlled, operationally seamless Phase 2/3 study of BMN 333 in treatment-naïve pediatric participants with achondroplasia (ACH). The study consists of a Phase 2 part and a Phase 3 part.

The purpose of this study is to evaluate i) the effect of multiple doses of vosoritide and ii) the effect of the therapeutic dose of vosoritide compared to human growth hormone (hGH)(hGH; only in the United States), in children with idiopathic short stature (ISS).

The purpose of this study in children with Noonan syndrome is to evaluate the effect of 3 doses of vosoritide on growth as measured by AGV after 6 months of treatment. The long-term efficacy and safety of vosoritide at the therapeutic dose will be evaluated up to FAH.

The purpose of this study is to evaluate the safety and efficacy of daily administration of vosoritide in participants with HCH aged 0 to \< 36 months over a 52-week period.

This is a 10-year multi-center, global, observational study to further characterize the safety profile of pegvaliase, including hypersensitivity reactions, long-term safety and tolerability, and the effectiveness of the additional risk minimization measures (aRMMs) (European Union (EU) only) in subjects receiving pegvaliase for the treatment of PKU. Subjects for whom a clinical decision has been made that they will receive pegvaliase to treat their PKU within 30 days following the date of enrollment (incident-users) or have previously started treatment with pegvaliase at the date of enrollment (prevalent-users) are eligible for participation in this study.

This is a 10-year multi-center, prospective, longitudinal, single arm study evaluating immunologic, inflammatory and laboratory parameters associated with long-term Palynziq treatment in subjects with phenylketonuria (PKU) in the United States (US). Subjects in the US for whom a clinical decision has been made that they will receive pegvaliase to treat their PKU within 30 days following the date of enrollment in Study 165-501 (incident-users) or who have previously started treatment with pegvaliase at the date of enrollment in Study 165-501 (prevalent-users) are eligible for participation in Study 165-503.

This is a Phase 4 observational study designed to assess the impact of Palynziq ® (pegvaliase) treatment in pregnant women with PKU and on their offspring who were exposed to pegvaliase at any time during pregnancy and breastfeeding.

This study will assess growth over time and the clinical course of HCH in children by collecting growth measurements and other variables of interest.