BioMarin Pharmaceutical clinical trials

The registry lists 172 studies whose lead sponsor is BioMarin Pharmaceutical or one of 4 companies grouped under it. 21 are recruiting or about to start. Per ClinicalTrials.gov, last updated Oct 22, 2026.

Studies

Recruiting first, then most recently updated. Showing 50 of 172. Browse all 172 →

• A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA VariantsRecruitingNCT06904261Phase 3

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With AchondroplasiaRecruitingNCT07441876Phase 2/3
• Long-Term Extension Study of Vosoritide to Treat Children With HypochondroplasiaEnrolling by invitationNCT07073014Phase 3
• A Study of Patients With Fabry Disease (US Specific)RecruitingNCT06906367

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• An Open-Label Extension Study to Evaluate the Long-term Safety and Efficacy of BMN 351 in Participants With Duchenne Muscular DystrophyEnrolling by invitationNCT07573631Phase 2
• VIrtual STudy in Achondroplasia for the US (VISTA)RecruitingNCT06168201
• A Study to Assess Growth in Children With Idiopathic Short StatureRecruitingNCT06309979
• Immune Modulation During Palynziq® Treatment in Adults (IMPALA)RecruitingNCT07477691Phase 4
• A Phase 2 Study of Vosoritide in Children With Idiopathic Short StatureRecruitingNCT06382155Phase 2
• A Study of Vosoritide Versus Placebo in Children With Hypochondroplasia Aged 0 to < 36 MonthsRecruitingNCT07126262Phase 2
• A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)RecruitingNCT05813678
• A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and BreastfeedingRecruitingNCT05579548
• A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)RecruitingNCT06305234
• A Global Prospective Observational Registry of Patients With Pompe DiseaseRecruitingNCT06121011

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18RecruitingNCT04808505Phase 3

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• A Long-Term Follow-Up Study in Severe Hemophilia A Subjects Who Received BMN 270 in a Prior BioMarin Clinical Trial (270-401)Enrolling by invitationNCT05768386
• Expanded Access for ATB200/AT2221 for the Treatment of Pompe DiseaseAvailableNCT03865836

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• Expanded Access for ATB200/AT2221 for the Treatment of IOPDAvailableNCT04327973

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and BreastfeedingRecruitingNCT04252066

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• Physician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry DiseaseAvailableNCT01476163

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• A Multicenter Multinational Observational Study of Children With HypochondroplasiaRecruitingNCT06212947
• ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 DeficiencyTerminatedNCT06462547Phase 2

  Sponsor listed in the registry: Inozyme Pharma · First submitted before Inozyme Pharma became part of BioMarin Pharmaceutical

• The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 DeficiencyTerminatedNCT05734196Phase 1

  Sponsor listed in the registry: Inozyme Pharma · First submitted before Inozyme Pharma became part of BioMarin Pharmaceutical

• Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ABCC6 Deficiency Causing PXECompletedNCT05030831Phase 1/2

  Sponsor listed in the registry: Inozyme Pharma · First submitted before Inozyme Pharma became part of BioMarin Pharmaceutical

• Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to PalynziqCompletedNCT06780332Phase 4
• The ENERGY 3 Study: Evaluation of Efficacy and Safety of INZ-701 in Children With ENPP1 DeficiencyTerminatedNCT06046820Phase 3

  Sponsor listed in the registry: Inozyme Pharma · First submitted before Inozyme Pharma became part of BioMarin Pharmaceutical

• PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 DeficiencyTerminatedNCT06302439

  Sponsor listed in the registry: Inozyme Pharma · First submitted before Inozyme Pharma became part of BioMarin Pharmaceutical

• ENERGY 2: Evaluation of the Efficacy and Safety of INZ-701 in Infants With ENPP1 DeficiencyTerminatedNCT07473973Phase 3

  Sponsor listed in the registry: Inozyme Pharma · First submitted after Inozyme Pharma became part of BioMarin Pharmaceutical

• A Study of Vosoritide in Children With Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone TreatmentActive, not recruitingNCT06668805Phase 2
• ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPDActive, not recruitingNCT03911505Phase 3

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• SEAPORT 1: Study of INZ-701 in Adults With Hemodialysis-Dependent End-Stage Kidney DiseaseCompletedNCT06283589Phase 1

  Sponsor listed in the registry: Inozyme Pharma · First submitted before Inozyme Pharma became part of BioMarin Pharmaceutical

• Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 DeficiencyCompletedNCT07745179

  Sponsor listed in the registry: Inozyme Pharma · First submitted before Inozyme Pharma became part of BioMarin Pharmaceutical

• Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With PhenylketonuriaActive, not recruitingNCT05270837Phase 3
• Safety, Tolerability, and Efficacy Study of Valoctocogene Roxaparvovec in Hemophilia A With Active or Prior InhibitorsCompletedNCT04684940Phase 1/2
• A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal DiseaseActive, not recruitingNCT04020055Phase 3

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 DeficiencyCompletedNCT05050669

  Sponsor listed in the registry: Inozyme Pharma · First submitted before Inozyme Pharma became part of BioMarin Pharmaceutical

• Cerliponase Alfa Observational Study in the USActive, not recruitingNCT04476862
• A Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Participants With Duchenne Muscular DystrophyActive, not recruitingNCT06280209Phase 1/2
• Study of BMN 349 Single Dose in PiZZ and PiMZ/MASH Adult ParticipantsActive, not recruitingNCT06738017Phase 1
• Phase 3 Study for Efficacy and Safety Outcomes Data in Japanese Patients With Severe Hemophilia AActive, not recruitingNCT06224907Phase 3
• A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With AchondroplasiaActive, not recruitingNCT04554940Phase 2
• An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With AchondroplasiaActive, not recruitingNCT03424018Phase 3
• An Extension Study to Evaluate Safety and Efficacy of BMN 111 in Children With AchondroplasiaActive, not recruitingNCT03989947Phase 2
• A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH)Active, not recruitingNCT02724228Phase 2
• A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With Late-Onset Pompe Disease (LOPD)CompletedNCT04138277Phase 3

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry DiseaseCompletedNCT04049760Phase 3

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy.CompletedNCT04281537

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• Interventional Study of Vosoritide for the Treatment of Children With HypochondroplasiaActive, not recruitingNCT06455059Phase 3
• First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221CompletedNCT02675465Phase 1/2

  Sponsor listed in the registry: Amicus Therapeutics · First submitted before Amicus Therapeutics became part of BioMarin Pharmaceutical

• Study to Evaluate the Efficacy and Safety of Valoctocogene Roxaparvovec, With Prophylactic Steroids in Hemophilia ACompletedNCT04323098Phase 3