| Not Yet Recruiting | Immune Modulation During Palynziq® Treatment in Adults (IMPALA) Phenylketonuria | Phase 4 | 2026-03-31 |
| Not Yet Recruiting | A Phase 2/3 Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondropl Achondroplasia | Phase 2 / Phase 3 | 2026-02-01 |
| Recruiting | A Study of Vosoritide Versus Placebo in Children With Hypochondroplasia Aged 0 to < 36 Months Hypochondroplasia | Phase 2 | 2025-07-30 |
| Enrolling By Invitation | Long-Term Extension Study of Vosoritide to Treat Children With Hypochondroplasia Hypochondroplasia | Phase 3 | 2025-06-20 |
| Recruiting | Study of BMN 349 Single Dose in PiZZ and PiMZ/MASH Adult Participants Alpha 1-Antitrypsin Deficiency | Phase 1 | 2025-02-21 |
| Active Not Recruiting | Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq Phenylketonuria, PKU | Phase 4 | 2025-02-07 |
| Recruiting | A Basket Study of Vosoritide in Children With Turner Syndrome, Short Stature Homeobox-Containing Gene Deficien Short Stature Homeobox- Containing Gene SHOX Deficiency, Noonan Syndrome, Turner Syndrome | Phase 2 | 2024-11-22 |
| Recruiting | A Phase 2 Study of Vosoritide in Children With Idiopathic Short Stature Idiopathic Short Stature | Phase 2 | 2024-10-21 |
| Recruiting | A Study to Assess Growth in Children With Idiopathic Short Stature Idiopathic Short Stature | — | 2024-08-08 |
| Active Not Recruiting | Interventional Study of Vosoritide for the Treatment of Children With Hypochondroplasia Hypochondroplasia | Phase 3 | 2024-06-17 |
| Recruiting | A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisad Phenylketonuria (PKU) | — | 2024-01-20 |
| Recruiting | A Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Par Duchenne Muscular Dystrophy | Phase 1 / Phase 2 | 2024-01-03 |
| Active Not Recruiting | Phase 3 Study for Efficacy and Safety Outcomes Data in Japanese Patients With Severe Hemophilia A Hemophilia A | Phase 3 | 2023-12-25 |
| Recruiting | A Multicenter Multinational Observational Study of Children With Hypochondroplasia Hypochondroplasia | — | 2023-11-27 |
| Withdrawn | A Study of BMN 255 in Participants With Non-Alcoholic Fatty Liver Disease And Hyperoxaluria Hyperoxaluria, Nonalcoholic Fatty Liver Disease, Kidney Stone | Phase 1 | 2023-09-26 |
| Terminated | Bioequivalence Study to Compare Two Injection Devices for BMN 111 in Healthy Participants Achondroplasia | Phase 1 | 2023-03-15 |
| Terminated | A Prospective Study Evaluating Seroprevalence and Seroconversion of Antibodies Against Adeno-associated Virus Hemophilia A | N/A | 2023-03-14 |
| Recruiting | VIrtual STudy in Achondroplasia for the US (VISTA) Achondroplasia | — | 2023-02-21 |
| Enrolling By Invitation | A Long-Term Follow-Up Study in Severe Hemophilia A Subjects Who Received BMN 270 in a Prior BioMarin Clinical Hemophilia A | — | 2023-01-01 |
| Recruiting | A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase Phenylketonuria, Maternal | — | 2022-11-22 |
| Active Not Recruiting | Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria Phenylketonuria (PKU) | Phase 3 | 2022-06-17 |
| Recruiting | A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace) Phenylketonuria (PKU) | — | 2022-06-06 |
| Active Not Recruiting | A Gene Therapy Study of BMN 331 in Subjects With Hereditary Angioedema Hereditary Angioedema, HAE | Phase 1 / Phase 2 | 2022-02-15 |
| Active Not Recruiting | Safety, Tolerability, and Efficacy Study of Valoctocogene Roxaparvovec in Hemophilia A With Active or Prior In Hemophilia A With Inhibitor, Hemophilia A With Anti Factor VIII | Phase 1 / Phase 2 | 2020-12-10 |
| Completed | Study to Evaluate the Efficacy and Safety of Valoctocogene Roxaparvovec, With Prophylactic Steroids in Hemophi Hemophilia A | Phase 3 | 2020-12-08 |
| Active Not Recruiting | A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia Achondroplasia | Phase 2 | 2020-10-10 |
| Active Not Recruiting | AAV Gene Therapy Study for Subjects with PKU Phenylketonuria (PKU) | Phase 1 / Phase 2 | 2020-09-24 |
| Completed | A Study to Evaluate Seroprevalence and Seroconversion of Antibodies to Adeno-Associated Virus (AAV) in Patient Hemophilia A | — | 2020-08-25 |
| Active Not Recruiting | Cerliponase Alfa Observational Study in the US Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 | — | 2020-08-19 |
| Completed | A Prospective Clinical Study of Phenylketonuria (PKU) Phenylketonurias | — | 2019-10-11 |
| Active Not Recruiting | An Extension Study to Evaluate Safety and Efficacy of BMN 111 in Children With Achondroplasia Achondroplasia | Phase 2 | 2019-06-12 |
| Completed | Lifetime Impact Study for Achondroplasia Achondroplasia | — | 2019-03-31 |
| Completed | Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU Phenylketonuria (PKU) | Phase 3 | 2018-09-13 |
| Completed | A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondropla Achondroplasia | Phase 2 | 2018-06-13 |
| Terminated | Gene Therapy Study in Severe Hemophilia A Patients With Antibodies Against AAV5 Hemophilia A, Gene Therapy, Clotting Disorders | Phase 1 / Phase 2 | 2018-04-24 |
| Completed | A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults Phenylketonuria (PKU) | — | 2018-03-31 |
| Completed | Single-Arm Study To Evaluate The Efficacy and Safety of Valoctocogene Roxaparvovec in Hemophilia A Patients at Hemophilia A | Phase 3 | 2018-03-14 |
| Completed | Single-Arm Study To Evaluate The Efficacy and Safety of Valoctocogene Roxaparvovec in Hemophilia A Patients (B Hemophilia A | Phase 3 | 2017-12-19 |
| Completed | Lifetime Impact of Achondroplasia Study in Europe-LIAISE Achondroplasia | — | 2017-12-17 |
| Active Not Recruiting | An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Achondroplasia | Phase 3 | 2017-12-12 |
| Completed | Retrospective Observational Safety Effectiveness With Kuvan in hpA Tetrahydrobiopterin Deficiency | — | 2017-10-10 |
| Completed | A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Achondroplasia | Phase 3 | 2016-12-12 |
| Terminated | Extension Study of BMN 044 in Duchenne Muscular Dystrophy (DMD) Duchenne Muscular Dystrophy | Phase 2 | 2016-04-01 |
| Active Not Recruiting | A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH Achondroplasia | Phase 2 | 2016-01-26 |
| Completed | A Safety, Tolerability, and Efficacy Study of BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Diseas Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 | Phase 2 | 2016-01-22 |
| Completed | Gene Therapy Study in Severe Haemophilia A Patients (270-201) Severe Haemophilia A | Phase 1 / Phase 2 | 2015-09-28 |
| Completed | A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Stud Phenylketonuria | — | 2015-08-05 |
| Completed | An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 | Phase 1 / Phase 2 | 2015-02-01 |
| Terminated | A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease Late-onset Pompe Patients Untreated or Treated With rhGAA | — | 2014-12-01 |
| Terminated | Open Label, Extension Study of PRO044 in Duchenne Muscular Dystrophy (DMD) Duchenne Muscular Dystrophy | Phase 2 | 2014-12-01 |
| Terminated | A Study of Respiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD) Late-onset Pompe Disease | — | 2014-10-21 |
| Completed | A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Mucopolysaccharidosis IV Type A, Morquio A Syndrome, MPS IVA | — | 2014-09-01 |
| Terminated | BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study) Late-onset Pompe Disease | Phase 3 | 2014-04-01 |
| Terminated | Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria Phenylketonuria | Phase 2 | 2014-02-01 |
| Completed | A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Achondroplasia | Phase 2 | 2014-01-13 |
| Completed | Kuvan®'s Effect on the Cognition of Children With Phenylketonuria Phenylketonuria | Phase 4 | 2013-10-01 |
| Completed | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 | Phase 1 / Phase 2 | 2013-09-01 |
| Completed | Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU Phenylketonuria (PKU) | Phase 3 | 2013-07-29 |
| Completed | BMN 110 Phase 3B in Australian Patients Mucopolysaccharidosis IVA (Morquio A Syndrome) | Phase 3 | 2013-07-01 |
| Terminated | A Phase I/II Study of BMN053 in Subjects With Duchenne Muscular Dystrophy (DMD) Duchenne Muscular Dystrophy | Phase 1 / Phase 2 | 2013-06-01 |
| Unknown | Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions Rare Genetic Disorders | — | 2013-06-01 |
| Completed | An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Phenylketonuria | Phase 3 | 2013-05-01 |
| Terminated | A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Sub Muscular Dystrophies | Phase 3 | 2013-05-01 |
| Terminated | Phase IIb Study of PRO045 in Subjects With Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy | Phase 1 / Phase 2 | 2013-01-01 |
| Terminated | A Prospective Natural History Study of Progression of Subjects With Duchenne Muscular Dystrophy. Duchenne Muscular Dystrophy | — | 2012-09-01 |
| Terminated | Efficacy and Safety Study of BMN 110 for Morquio A Syndrome Patients Who Have Limited Ambulation Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA | Phase 2 | 2012-08-01 |
| Completed | A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks Phenylketonuria | Phase 2 | 2012-05-01 |
| Terminated | Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA | Phase 2 | 2012-04-01 |
| Completed | A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Achondroplasia | — | 2012-04-01 |
| Completed | A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers Achondroplasia | Phase 1 | 2012-02-01 |
| Completed | Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA | Phase 2 | 2011-10-01 |
| Terminated | Extension Study for Patients Who Have Participated in a BMN 701 Study Pompe Disease | Phase 2 | 2011-08-15 |
| Completed | Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Mucopolysaccharidosis IV A, Morquio A Syndrome, MPS IVA | Phase 3 | 2011-07-01 |
| Completed | Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02 MPS VI | — | 2011-06-01 |
| Completed | Kuvan® in Phenylketonuria Patients Less Than 4 Years Old Phenylketonuria | Phase 3 | 2011-06-01 |
| Completed | Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PK Phenylketonuria | Phase 2 | 2011-03-01 |
| Completed | A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA MPS IV A | Phase 3 | 2011-02-01 |
| Completed | Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pom Pompe Disease | Phase 1 / Phase 2 | 2011-01-17 |
| Terminated | A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (M MPS IV A, Mucopolysaccharidosis IVA, Morquio A Syndrome | Phase 1 / Phase 2 | 2010-11-01 |
| Completed | Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria Phenylketonuria | Phase 3 | 2010-08-01 |
| Completed | Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003) Phenylketonuria | Phase 2 | 2010-01-13 |
| Completed | Phase I/II Study of PRO044 in Duchenne Muscular Dystrophy (DMD) Duchenne Muscular Dystrophy | Phase 1 / Phase 2 | 2009-12-01 |
| Completed | Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) D Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency | — | 2009-12-01 |
| Completed | Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subject Phenylketonuria | Phase 2 | 2009-09-01 |
| Completed | A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IV MPS IV A | Phase 1 / Phase 2 | 2009-04-01 |
| Completed | Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Childre Phenylketonuria | Phase 3 | 2009-02-01 |
| Terminated | A Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) MPS IV A, Mucopolysaccharidosis IVA, Morquio A Syndrome | — | 2008-10-01 |
| Completed | A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects Phenylketonuria | Phase 1 | 2008-10-01 |
| Completed | PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry Phenylketonuria, Hyperphenylalaninaemia | — | 2008-09-01 |
| Completed | Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria Phenylketonuria | Phase 1 | 2008-05-01 |
| Terminated | A Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess Effect, Safety, Tolerability and PK of Multip Muscular Dystrophies | Phase 2 | 2008-03-01 |
| Completed | A Phase 2, Pharmacokinetic (PK) Study of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial Dy Endothelial Dysfunction | Phase 2 | 2007-09-01 |
| Completed | A Phase 2 Study of the Effects of 6R-BH4 in Subjects With Sickle Cell Disease Sickle Cell Disease | Phase 2 | 2007-05-01 |
| Completed | A Phase 2 Study of the Effects of Sapropterin Dihydrochloride on Symptomatic Peripheral Arterial Disease Intermittent Claudication | Phase 2 | 2006-12-01 |
| Completed | Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency Tetrahydrobiopterin Deficiencies, Hyperphenylalaninemia, Non-Phenylketonuric | Phase 2 | 2006-08-01 |
| Completed | Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006 Phenylketonuria | Phase 3 | 2006-07-01 |
| Completed | A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Mucopolysaccharidosis VI, Maroteaux-Lamy Syndrome | Phase 4 | 2006-05-01 |
| Completed | A Study of the Effects of 6R-BH4 on Blood Pressure in Subjects With Poorly Controlled Systemic Hypertension Hypertension | Phase 2 | 2006-05-01 |
| Completed | Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restrict Phenylketonurias | Phase 3 | 2006-02-01 |
| Completed | A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenyla Phenylketonurias | Phase 3 | 2005-11-01 |
| Completed | Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP) Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome) | — | 2005-07-01 |
| Completed | Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phe Phenylketonurias | Phase 3 | 2005-03-01 |
| Completed | Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Pheny Phenylketonurias | Phase 2 | 2004-12-01 |
| Completed | Study of rhASB in Patients With Mucopolysaccharidosis VI Mucopolysaccharidosis VI | Phase 3 | 2004-02-01 |
| Completed | Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Mucopolysaccharidosis VI | Phase 3 | 2003-09-01 |
| Completed | Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients Wit Mucopolysaccharidosis VI | Phase 2 | 2002-03-01 |
| Completed | Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI Mucopolysaccharidosis VI | Phase 1 | 2000-09-01 |
| Approved For Marketing | BMN 110 US Expanded Access Program Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA | — | — |
| No Longer Available | Extension Study of Drisapersen in DMD Subjects Duchenne Muscular Dystrophy | — | — |
| Approved For Marketing | Sapropterin Expanded Access Program Phenylketonuria | — | — |
| Approved For Marketing | A Multicenter, Multi-national Open-label Program to Provide BMN 190 to Patients Diagnosed With CLN2 Disease CLN2 Disease | — | — |