Clinical trials: sponsored by BioMarin Pharmaceutical
Achondroplasia
Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia
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).
- Trial name
- ASPEN (NCT07441876)
- Testing
- BMN 333, Vosoritide Injection [Voxzogo]
- Where
- 28 sites in United States, Australia and 7 more
- Volunteers
- 160 people
- Sponsor
- BioMarin Pharmaceutical
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency
The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy, ATP-Binding Cassette Subfamily C Member 6 Deficiency
- Trial name
- ENERGY (NCT05734196)
- Testing
- INZ-701
- Where
- 5 sites in United States, Spain and 1 more
- Volunteers
- 9 people
- Sponsor
- Inozyme Pharma
Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
The ENERGY 3 Study: Evaluation of Efficacy and Safety of INZ-701 in Children With ENPP1 Deficiency
The primary purpose of Study INZ701-106 (The ENERGY 3 Study) is to assess the efficacy and safety of INZ-701 in children with ENPP1 Deficiency.
- Conditions
- Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy
- Trial name
- NCT06046820
- Testing
- INZ-701, Control Arm (Conventional Therapy)
- Where
- 11 sites in United States, Australia and 6 more
- Volunteers
- 27 people
- Sponsor
- Inozyme Pharma
Phenylketonuria, PKU
Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq
The purpose of this study is to determine if rapid drug desensitization (RDD) to Palynziq will improve drug tolerability and treatment persistence in adult patients on commercial Palynziq experiencing hypersensitivity reactions…
- Trial name
- PALLADIUM (NCT06780332)
- Testing
- RDD to Palynziq
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- BioMarin Pharmaceutical
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets
ENERGY 2: Evaluation of the Efficacy and Safety of INZ-701 in Infants With ENPP1 Deficiency
The primary purpose of ENERGY 2 (Study INZ701-105) is to assess the efficacy and safety of INZ-701 in infants with ENPP1 Deficiency.
- Conditions
- Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy 1
- Trial name
- NCT07473973
- Testing
- INZ-701
- Where
- 8 sites in Brazil, France and 6 more
- Volunteers
- 2 people
- Sponsor
- Inozyme Pharma
Noonan Syndrome
A Study of Vosoritide in Children With Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone Treatment
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.
- Trial name
- NCT06668805
- Testing
- Vosoritide Injection
- Where
- 38 sites in United States, Australia and 5 more
- Volunteers
- 30 people
- Sponsor
- BioMarin Pharmaceutical
Hypochondroplasia
Long-Term Extension Study of Vosoritide to Treat Children With Hypochondroplasia
The purpose of this study is to evaluate the long-term safety and efficacy of daily doses of vosoritide in participants with HCH
- Trial name
- CANOPY-HCH-EXT (NCT07073014)
- Testing
- Vosoritide
- Where
- 30 sites in United States, Australia and 7 more
- Volunteers
- 140 people
- Sponsor
- BioMarin Pharmaceutical
Calciphylaxis
SEAPORT 1: Study of INZ-701 in Adults With Hemodialysis-Dependent End-Stage Kidney Disease
This Phase 1, open-label, multicenter study evaluated the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of INZ-701 in adults with hemodialysis-dependent end-stage kidney disease (ESKD) and low plasma inorganic…
- Trial name
- SEAPORT 1 (NCT06283589)
- Testing
- INZ-701
- Where
- 2 sites in United States
- Volunteers
- 11 people
- Sponsor
- Inozyme Pharma
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Duchenne Muscular Dystrophy (DMD)
An Open-Label Extension Study to Evaluate the Long-term Safety and Efficacy of BMN 351 in Participants With Duchenne Muscular Dystrophy
This open-label extension study aims to evaluate the long-term safety and tolerability of weekly BMN 351 infusions, as well as to assess the effect of BMN 351 on physical function, in participants with DMD who participated in the…
- Trial name
- NCT07573631
- Testing
- BMN 351
- Where
- 6 sites in Italy, Netherlands and 3 more
- Volunteers
- 18 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria (PKU)
Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria
This is a Phase 3 open-label randomized controlled study enrolling approximately 54 adolescents with PKU. The study is designed to assess the safety and efficacy of pegvaliase injections.
- Trial name
- PEGASUS (NCT05270837)
- Testing
- Pegvaliase, Diet Only
- Where
- 16 sites in United States, Germany
- Volunteers
- 55 people
- Sponsor
- BioMarin Pharmaceutical
Hemophilia A With Inhibitor, Hemophilia A With Anti Factor VIII
Safety, Tolerability, and Efficacy Study of Valoctocogene Roxaparvovec in Hemophilia A With Active or Prior Inhibitors
This Phase I/II clinical study will evaluate the safety and efficacy of valoctocogene roxaparvovec in patients with severe haemophilia A and inhibitors to FVIII.
- Trial name
- GENEr8-INH (NCT04684940)
- Testing
- Valoctocogene roxaparvovec
- Where
- 9 sites in United States, Brazil and 5 more
- Volunteers
- 10 people
- Sponsor
- BioMarin Pharmaceutical
Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
Cerliponase Alfa Observational Study in the US
This is a multicenter, observational study for patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), also known as TPP1 deficiency, who intend to be or are currently being treated with…
- Trial name
- NCT04476862
- Testing
- Cerliponase Alfa, Administration Kit
- Where
- 16 sites in United States
- Volunteers
- 35 people
- Sponsor
- BioMarin Pharmaceutical
Achondroplasia
VIrtual STudy in Achondroplasia for the US (VISTA)
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™.
- Trial name
- VISTA (NCT06168201)
- Where
- 8 sites in United States
- Volunteers
- 170 people
- Sponsor
- BioMarin Pharmaceutical
Duchenne Muscular Dystrophy
A Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Participants With Duchenne Muscular Dystrophy
The purpose of this study is to test the safety and tolerability of BMN 351 in participants with Duchenne Muscular Dystrophy (DMD) with a genetic mutation amenable to exon 51 skipping.
- Trial name
- NCT06280209
- Testing
- BMN 351
- Where
- 7 sites in Italy, Netherlands and 3 more
- Volunteers
- 18 people
- Sponsor
- BioMarin Pharmaceutical
Idiopathic Short Stature
A Study to Assess Growth in Children With Idiopathic Short Stature
Study 111-903 will generate baseline growth data in children with ISS by collecting growth measurements and other variables of interest.
- Trial name
- NCT06309979
- Where
- 38 sites in United States
- Volunteers
- 300 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria
Immune Modulation During Palynziq® Treatment in Adults (IMPALA)
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.
- Trial name
- NCT07477691
- Testing
- Pegvaliase, Methotrexate
- Where
- 12 sites in United States
- Volunteers
- 12 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias
Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase
Conduct a prospective, longitudinal study to evaluate nutritional status in adults with phenylketonuria (PKU) before and during treatment with pegvaliase (Palynziq™).
- Trial name
- NCT03856203
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Boston Children's Hospital
Idiopathic Short Stature
A Phase 2 Study of Vosoritide in Children With Idiopathic Short Stature
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…
- Trial name
- NCT06382155
- Testing
- Vosoritide Injection, Human Growth Hormone
- Where
- 47 sites in United States, Australia and 4 more
- Volunteers
- 100 people
- Sponsor
- BioMarin Pharmaceutical
Alpha 1-Antitrypsin Deficiency
Study of BMN 349 Single Dose in PiZZ and PiMZ/MASH Adult Participants
The goal of this clinical trial is to assess the safety and tolerability of a single oral dose of BMN 349 in participants with PiZZ or PiMZ/MASH.
- Trial name
- NCT06738017
- Testing
- BMN 349
- Where
- 7 sites in United States, United Kingdom
- Volunteers
- 6 people
- Sponsor
- BioMarin Pharmaceutical