BioMarin Pharmaceutical Inc

BMRN

Healthcare|Biotechnology|USA

$56.02

-0.20 (-0.35%)

DCF (FCF)

$37.55

Tangible Book

$29.52

Graham Number

$45.74

Earnings Power

$19.68

Clinical Trials (176)

Trial	Conditions	Phase	Status	Enrollment	Design	Drug
NCT06780332 Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq	Phenylketonuria, PKU	P4	Active	9	Open-label	RDD to Palynziq
NCT03424018 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia	Achondroplasia	P3	Active	119	Open-label	BMN 111
NCT07473973 ENERGY 2: Evaluation of the Efficacy and Safety of INZ-701 in Infants With ENPP1 Deficiency	Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets	P3	Recruiting	12	Open-label	INZ-701
NCT05270837 Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria	Phenylketonuria (PKU)	P3	Active	55	RCT, Open-label	Pegvaliase
NCT06224907 Phase 3 Study for Efficacy and Safety Outcomes Data in Japanese Patients With Severe Hemophilia A	Hemophilia A	P3	Active	6	Open-label	Valoctocogene roxaparvovec
NCT06455059 Interventional Study of Vosoritide for the Treatment of Children With Hypochondroplasia	Hypochondroplasia	P3	Active	80	RCT, Double-blind	Vosoritide, Placebo
NCT07126262 A Study of Vosoritide Versus Placebo in Children With Hypochondroplasia Aged 0 to < 36 Months	Hypochondroplasia	P2	Recruiting	60	RCT, Double-blind	Vosoritide, Placebo
NCT03989947 An Extension Study to Evaluate Safety and Efficacy of BMN 111 in Children With Achondroplasia	Achondroplasia	P2	Active	73	Open-label	Active BMN 111: Subcutaneous injection of recommended dose of BMN 111 based on weight-band dosing once daily.
NCT04554940 A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia	Achondroplasia	P2	Active	20	RCT, Open-label	vosoritide
NCT05121376 A Gene Therapy Study of BMN 331 in Subjects With Hereditary Angioedema	Hereditary Angioedema, HAE	P1P2	Active	44	Open-label	—
NCT06382155 A Phase 2 Study of Vosoritide in Children With Idiopathic Short Stature	Idiopathic Short Stature	P2	Recruiting	100	RCT, Double-blind	Vosoritide Injection, Human Growth Hormone, Placebo
NCT06668805 A Basket Study of Vosoritide in Children With Turner Syndrome, Short Stature Homeobox-Containing Gene Deficiency, and Noonan Syndrome With Inadequate Growth During or After Human Growth Hormone Treatment	Short Stature Homeobox- Containing Gene SHOX Deficiency, Noonan Syndrome	P2	Recruiting	54	RCT, Double-blind	Vosoritide Injection
NCT02724228 A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH)	Achondroplasia	P2	Active	30	Open-label	BMN 111
NCT04684940 Safety, Tolerability, and Efficacy Study of Valoctocogene Roxaparvovec in Hemophilia A With Active or Prior Inhibitors	Hemophilia A With Inhibitor, Hemophilia A With Anti Factor VIII	P1P2	Active	10	Open-label	Valoctocogene roxaparvovec
NCT06280209 A Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Participants With Duchenne Muscular Dystrophy	Duchenne Muscular Dystrophy	P1P2	Recruiting	18	Open-label	BMN 351
NCT04480567 AAV Gene Therapy Study for Subjects with PKU	Phenylketonuria (PKU)	P1P2	Active	100	Open-label	BMN 307
NCT06738017 Study of BMN 349 Single Dose in PiZZ and PiMZ/MASH Adult Participants	Alpha 1-Antitrypsin Deficiency	P1	Recruiting	12	RCT, Double-blind	BMN 349, Placebo
NCT04800692 The Effects of ATLAS Therapy on Nitric Oxide Bioavailability in Patients With Intermittent Claudication	Claudication, Intermittent, Peripheral Artery Disease	P1	Recruiting	10	Open-label	Tetrahydrobiopterin 10 mg/kg, Tetrahydrobiopterin 20 mg/kg, L-Ascorbate, L-Arginine
NCT05734196 The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency	Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets	P1	Recruiting	16	Open-label	INZ-701
NCT06309979 A Study to Assess Growth in Children With Idiopathic Short Stature	Idiopathic Short Stature		Recruiting	300	—	—
NCT06212947 A Multicenter Multinational Observational Study of Children With Hypochondroplasia	Hypochondroplasia		Recruiting	400	—	—
NCT02597881 Achondroplasia Natural History Multicenter Clinical Study	Achondroplasia		Recruiting	1,500	—	—
NCT04476862 Cerliponase Alfa Observational Study in the US	Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2		Active	35	—	Cerliponase Alfa
NCT05813678 A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)	Phenylketonuria (PKU)		Recruiting	450	—	Pegvaliase
NCT06305234 A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)	Phenylketonuria (PKU)		Recruiting	200	—	Pegvaliase
NCT05579548 A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding	Phenylketonuria, Maternal		Recruiting	50	—	Pegvaliase
NCT04404530 Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)	Phenylketonurias		Recruiting	45	—	Palynziq
NCT06168201 VIrtual STudy in Achondroplasia for the US (VISTA)	Achondroplasia		Recruiting	170	—	—
NCT01617070 Effects of Kuvan on Melatonin Secretion	Phenylketonuria (PKU)	P4	Completed	10	Open-label	Kuvan
NCT00144768 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients	Mucopolysaccharidosis I, Hurler's Syndrome	P4	Completed	25	Open-label	laronidase
NCT02677870 The Effectiveness of Kuvan in Amish PKU Patients	Phenylketonuria	P4	Completed	7	RCT, Double-blind	saproterin dihydrochloride
NCT04227080 BH4 Responsiveness in PAH Deficiency PKU Patients	Pku Phenylketonuria, PAH Deficiency	P4	Unknown	40	Open-label	BH4
NCT00299000 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI	Mucopolysaccharidosis VI, Maroteaux-Lamy Syndrome	P4	Completed	4	RCT, Open-label	Naglazyme
NCT00144781 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease	Mucopolysaccharidosis I, Hurler's Syndrome	P4	Completed	34	RCT, Open-label	Aldurazyme (Recombinant Human Alpha-L-Iduronidase), Aldurazyme (Recombinant Human Alpha-L-Iduronidase), Aldurazyme (Recombinant Human Alpha-L-Iduronidase), Aldurazyme (Recombinant Human Alpha-L-Iduronidase)
NCT00418821 A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants	Mucopolysaccharidosis I, Hurler's Syndrome	P4	Terminated	2	Open-label	Laronidase
NCT07477691 Immune Modulation During Palynziq® Treatment in Adults (IMPALA)	Phenylketonuria	P4	Not Yet Recruiting	12	Open-label	Pegvaliase, Methotrexate
NCT01965912 Kuvan®'s Effect on the Cognition of Children With Phenylketonuria	Phenylketonuria	P4	Completed	34	Open-label	Kuvan®
NCT07441876 A Phase 2/3 Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia	Achondroplasia	P2P3	Not Yet Recruiting	160	RCT, Single-blind	BMN 333, Vosoritide Injection [Voxzogo]
NCT00225615 A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels	Phenylketonurias	P3	Completed	100	Open-label	sapropterin dihydrochloride
NCT01803412 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects	Muscular Dystrophies	P3	Terminated	53	Open-label	Drisapersen, Drisapersen, Drisapersen
NCT00258011 Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease	Mucopolysaccharidosis I, Hurler Syndrome	P3	Completed	3	Open-label	Aldurazyme (Recombinant Human Alpha-L-Iduronidase)
NCT01924845 BMN 701 Phase 3 in rhGAA Exposed Subjects With Late Onset Pompe Disease (INSPIRE Study)	Late-onset Pompe Disease	P3	Terminated	24	Open-label	BMN 701
NCT00935753 Trial of Kuvan in Lesch-Nyhan Disease	Behavioral Manifestations of Lesch-Nyhan Disease	P2P3	Withdrawn	—	Open-label	sapropterin
NCT03694353 Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU	Phenylketonuria (PKU)	P3	Completed	37	Open-label	Pegvaliase
NCT03392974 Single-Arm Study To Evaluate The Efficacy and Safety of Valoctocogene Roxaparvovec in Hemophilia A Patients at a Dose of 4E13 vg/kg	Hemophilia A	P3	Completed	1	Open-label	Valoctocogene Roxaparvovec
NCT00912925 Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I	Mucopolysaccharidosis I, Hurlers Syndrome	P3	Completed	45	RCT, Double-blind	rhIDU (recombinant human-Alpha-L-Iduronidase), Placebo
NCT01376908 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old	Phenylketonuria	P3	Completed	56	RCT, Open-label	Kuvan®
NCT00104234 Study of rhASB in Patients With Mucopolysaccharidosis VI	Mucopolysaccharidosis VI	P3	Completed	39	Open-label	N-acetylgalactosamine 4-sulfatase, Placebo/rhASB
NCT00332189 Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006	Phenylketonuria	P3	Completed	111	Open-label	sapropterin dihydrochloride
NCT01275066 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)	MPS IV A	P3	Completed	177	RCT, Double-blind	BMN 110 Weekly, Placebo, BMN 110 Every Other Week
NCT01819727 An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165	Phenylketonuria	P3	Completed	261	RCT, Open-label	BMN 165
NCT01889862 Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU	Phenylketonuria (PKU)	P3	Completed	215	RCT, Double-blind	BMN165 20mg/day, BMN165 40mg/day, Placebo
NCT03370913 Single-Arm Study To Evaluate The Efficacy and Safety of Valoctocogene Roxaparvovec in Hemophilia A Patients (BMN 270-301)	Hemophilia A	P3	Completed	144	Open-label	valoctocogene roxaparvovec
NCT00943579 Open-Label Extension Study of Kuvan for Autism	Autistic Disorder	P2P3	Completed	41	Open-label	Kuvan®
NCT00146770 Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients	Mucopolysaccharidosis I, Hurler's Syndrome	P3	Completed	45	Open-label	Aldurazyme, Aldurazyme, placebo
NCT04323098 Study to Evaluate the Efficacy and Safety of Valoctocogene Roxaparvovec, With Prophylactic Steroids in Hemophilia A	Hemophilia A	P3	Completed	22	Open-label	valoctocogene roxaparvovec
NCT00272792 Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet	Phenylketonurias	P3	Completed	45	RCT, Double-blind	Sapropterin Dihydrochloride, Placebo
NCT07073014 Long-Term Extension Study of Vosoritide to Treat Children With Hypochondroplasia	Hypochondroplasia	P3	By Invite	140	Open-label	Vosoritide
NCT00067470 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI	Mucopolysaccharidosis VI	P3	Completed	39	RCT, Double-blind	Placebo, N-acetylgalactosamine 4-sulfatase
NCT03197766 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia	Achondroplasia	P3	Completed	121	RCT, Double-blind	BMN 111, Placebo
NCT01114737 Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients	Phenylketonuria	P3	Completed	206	RCT, Double-blind	Sapropterin dihydrochloride, Placebo
NCT01415427 Long-Term Efficacy and Safety Extension Study of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)	Mucopolysaccharidosis IV A, Morquio A Syndrome	P3	Completed	173	RCT, Double-blind	BMN 110 - Weekly, BMN 110 - Every Other Week
NCT01966029 BMN 110 Phase 3B in Australian Patients	Mucopolysaccharidosis IVA (Morquio A Syndrome)	P3	Completed	13	Open-label	BMN 110
NCT00838435 Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKU	Phenylketonuria	P3	Completed	95	Open-label	sapropterin dihydrochloride
NCT00104247 Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels	Phenylketonurias	P3	Completed	89	RCT, Double-blind	sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin
NCT01212744 Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU)	Phenylketonuria	P2	Completed	16	Open-label	rAvPAL-PEG
NCT00741338 Immune Tolerance Study With Aldurazyme® (Laronidase)	Mucopolysaccharidosis I	P1P2	Completed	7	RCT, Open-label	Laronidase, Cyclosporine A (CsA), Azathioprine (Aza)
NCT00423280 Effect of 6R-BH4 Treatment in Coronary Artery Disease (OXBIO Study)	Coronary Artery Disease	P2	Unknown	66	RCT, Double-blind	6R-BH4
NCT00802893 Oral 6R-BH4 for the Treatment of Isolated Systolic Hypertension and Endothelial Dysfunction	Isolated Systolic Hypertension, Endothelial Dysfunction	P2	Terminated	3	RCT, Double-blind	6R-BH4
NCT00532844 A Phase 2, Pharmacokinetic (PK) Study of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial Dysfunction	Endothelial Dysfunction	P2	Completed	52	RCT, Open-label	Sapropterin Dihydrochloride, Sapropterin Dihydrochloride and Vitamin C
NCT01977820 Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria	Phenylketonuria	P2	Terminated	2	RCT, Double-blind	Sapropterin, Placebo
NCT02055157 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia	Achondroplasia	P2	Completed	35	Open-label	BMN 111
NCT00884949 A Study to Evaluate the Safety, Tolerability and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA	MPS IV A	P1P2	Completed	20	Open-label	BMN 110
NCT01037309 Phase I/II Study of PRO044 in Duchenne Muscular Dystrophy (DMD)	Duchenne Muscular Dystrophy	P1P2	Completed	18	Open-label	PRO044 SC, PRO044 IV
NCT01515956 Study of BMN 110 in Pediatric Patients < 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome)	Mucopolysaccharidosis IVA, Morquio A Syndrome	P2	Completed	15	Open-label	BMN 110
NCT03583697 A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia	Achondroplasia	P2	Completed	75	RCT, Double-blind	BMN 111, Placebo
NCT02329769 Open Label, Extension Study of PRO044 in Duchenne Muscular Dystrophy (DMD)	Duchenne Muscular Dystrophy	P2	Terminated	15	Open-label	PRO044 SC 6 mg/kg, PRO044 IV 6 mg/kg, PRO044 IV 9 mg/kg
NCT01957059 A Phase I/II Study of BMN053 in Subjects With Duchenne Muscular Dystrophy (DMD)	Duchenne Muscular Dystrophy	P1P2	Terminated	9	Open-label	Regimen Selection Phase Group 2, Regimen Selection Phase Group 3, Treatment Phase Group 4, Regimen Selection Phase Group 1 (COMPLETED), Dosing Extension
NCT02958202 Extension Study of BMN 044 in Duchenne Muscular Dystrophy (DMD)	Duchenne Muscular Dystrophy	P2	Terminated	7	Open-label	BMN 044 IV 6 mg/kg, BMN 044 IV 9 mg/kg, BMN 044 SC 6 mg/kg
NCT00403494 A Phase 2 Study of the Effects of Sapropterin Dihydrochloride on Symptomatic Peripheral Arterial Disease	Intermittent Claudication	P2	Completed	190	RCT, Double-blind	Sapropterin Dihydrochloride
NCT00048711 Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VI	Mucopolysaccharidosis VI	P2	Completed	—	Open-label	N-acetylgalactosamine 4-sulfatase
NCT00625820 Tetrahydrobiopterin in Patients With Chronic Kidney Disease (CKD) and Albuminuria	Kidney Disease, Albuminuria	P2	Completed	17	Open-label	6R BH4
NCT01910649 A Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess Effect, Safety, Tolerability and PK of Multiple SC Doses of Drisapersen in Patients With Duchenne Muscular Dystrophy and to Assess the Potential for IV Dosing as an Alternative Route of Administration	Muscular Dystrophies	P2	Terminated	12	Open-label	Drisapersen
NCT02576795 Gene Therapy Study in Severe Haemophilia A Patients (270-201)	Severe Haemophilia A	P1P2	Completed	15	Open-label	valoctocogene roxaparvovec
NCT01425528 Study of Kuvan Treatment in Adults With GTPCH Deficiency	GTP Cyclohydrolase Deficiency	P1P2	Completed	12	Open-label	Sapropterin
NCT00445978 A Phase 2 Study of the Effects of 6R-BH4 in Subjects With Sickle Cell Disease	Sickle Cell Disease	P2	Completed	32	Open-label	Sapropterin Dihydrochloride
NCT00355264 Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 Deficiency	Tetrahydrobiopterin Deficiencies, Hyperphenylalaninemia, Non-Phenylketonuric	P2	Completed	12	Open-label	Phenoptin
NCT03520712 Gene Therapy Study in Severe Hemophilia A Patients With Antibodies Against AAV5	Hemophilia A, Gene Therapy	P1P2	Terminated	3	Open-label	Valoctocogene Roxaparvovec
NCT01697319 Efficacy and Safety Study of BMN 110 for Morquio A Syndrome Patients Who Have Limited Ambulation	Mucopolysaccharidosis IVA, Morquio A Syndrome	P2	Terminated	16	Open-label	BMN 110
NCT00925054 Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU	Phenylketonuria	P2	Completed	40	Open-label	rAvPAL-PEG 0.001 mg/kg, rAvPAL-PEG 0.003 mg/kg, rAvPAL-PEG 0.01 mg/kg, rAvPAL-PEG 0.03 mg/kg, rAvPAL-PEG 0.1 mg/kg
NCT00325962 A Study of the Effects of 6R-BH4 on Blood Pressure in Subjects With Poorly Controlled Systemic Hypertension	Hypertension	P2	Completed	84	RCT, Double-blind	6R-BH4 (sapropterin dihydrochloride)
NCT01560286 A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks	Phenylketonuria	P2	Completed	24	Open-label	BMN 165 (rAvPAL-PEG)
NCT01435772 Extension Study for Patients Who Have Participated in a BMN 701 Study	Pompe Disease	P2	Terminated	21	Open-label	BMN 701
NCT01826474 Phase IIb Study of PRO045 in Subjects With Duchenne Muscular Dystrophy	Duchenne Muscular Dystrophy	P1P2	Terminated	15	Open-label	PRO045, 0.15 mg/kg/week, PRO045, 1.0 mg/kg/week, PRO045, 3.0 mg/kg/week, PRO045, 6.0 mg/kg/week, PRO045, 9.0 mg/kg/week, PRO045, selected dose
NCT01242111 A Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome)	MPS IV A, Mucopolysaccharidosis IVA	P1P2	Terminated	20	Open-label	BMN 110
NCT00850070 Sapropterin as a Treatment for Autistic Disorder	Autistic Disorder	P2	Completed	46	RCT, Double-blind	sapropterin, Placebo
NCT00146757 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old	Mucopolysaccharidosis I, Hurler Syndrome	P2	Completed	20	Open-label	Aldurazyme (Recombinant Human Alpha-L-Iduronidase), Aldurazyme (Recombinant Human Alpha-L-Iduronidase)
NCT00924703 Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003)	Phenylketonuria	P2	Completed	68	Open-label	rAvPAL-PEG
NCT01907087 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease	Jansky-Bielschowsky Disease, Batten Disease	P1P2	Completed	24	Open-label	BMN 190
NCT02401347 Phase II Trial of Talazoparib in BRCA1/2 Wild-type HER2-negative Breast Cancer and Other Solid Tumors	Advanced Breast Cancer, HER2/Neu Negative	P2	Completed	21	Open-label	Talazoparib Tosylate
NCT02678689 A Safety, Tolerability, and Efficacy Study of BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease	Jansky-Bielschowsky Disease, Batten Disease	P2	Completed	14	Open-label	BMN 190 recombinant human tripeptidyl peptidase-1 (rhTPP1)
NCT00104260 Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With Phenylketonuria	Phenylketonurias	P2	Completed	700	Open-label	sapropterin dihydrochloride
NCT01230801 Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease	Pompe Disease	P1P2	Completed	22	Open-label	BMN 701
NCT01609062 Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome	Mucopolysaccharidosis IVA, Morquio A Syndrome	P2	Terminated	25	RCT, Double-blind	BMN 110, BMN 110
NCT02485899 An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease	Jansky-Bielschowsky Disease, Batten Disease	P1P2	Completed	23	Open-label	BMN 190
NCT02049593 PARP Inhibitor BMN-673 and Temozolomide or Irinotecan Hydrochloride in Treating Patients With Locally Advanced or Metastatic Solid Tumors	Metastatic Cancer, Unspecified Adult Solid Tumor	P1	Completed	44	Open-label	PARP inhibitor BMN-673, temozolomide, irinotecan hydrochloride
NCT00789568 A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult Subjects	Phenylketonuria	P1	Completed	56	RCT, Double-blind	sapropterin dihydrochloride, Moxifloxacin, Moxifloxacin placebo
NCT01590446 A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers	Achondroplasia	P1	Completed	74	RCT, Double-blind	BMN 111, Normal Saline
NCT02392793 Talazoparib Plus Irinotecan With or Without Temozolomide in Children With Refractory or Recurrent Solid Malignancies	Childhood Solid Tumors	P1	Completed	43	Open-label	Talazoparib, Irinotecan, Temozolomide, Filgrastim, Peg-filgrastim
NCT02537561 Talazoparib in Combination With Gemcitabine and Cisplatin in Patients With Advanced Solid Tumors	Solid Tumors, Carcinoma, Non-Small Cell Lung	P1	Withdrawn	—	Open-label	Cisplatin, Gemcitabine, Talazoparib
NCT05813314 Bioequivalence Study to Compare Two Injection Devices for BMN 111 in Healthy Participants	Achondroplasia	P1	Terminated	36	RCT, Open-label	BMN 111 administration via vial and syringe
NCT00634660 Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria	Phenylketonuria	P1	Completed	25	RCT, Open-label	rAvPAL-PEG
NCT00048620 Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase in Patients With MPS VI	Mucopolysaccharidosis VI	P1	Completed	—	RCT, Double-blind	N-acetylgalactosamine 4-sulfatase
NCT06138327 A Study of BMN 255 in Participants With Non-Alcoholic Fatty Liver Disease And Hyperoxaluria	Hyperoxaluria, Nonalcoholic Fatty Liver Disease	P1	Withdrawn	—	RCT, Double-blind	BMN 255, Placebo
NCT00435331 6R-BH4 Pulmonary Arterial Hypertension Study	Pulmonary Arterial Hypertension	P1	Completed	14	Open-label	sapropterin dihydrochloride (6R-BH4)
NCT03864029 Retrospective Observational Safety Effectiveness With Kuvan in hpA	Tetrahydrobiopterin Deficiency		Completed	26	—	KUVAN
NCT05368038 ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program	Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2		By Invite	100,000	—	—
NCT01924026 Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study	Phenylketonuria, Mild Hyperphenylalaninemia		Completed	10	—	—
NCT01806051 A Pilot Study on Diurnal Variation	Phenylketonuria (PKU)	N/A	Terminated	6	Open-label	Kuvan
NCT03204370 Natural History of Atypical Morquio A Disease	Mucopolysaccharidosis IV A		Completed	7	—	Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
NCT01603095 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia	Achondroplasia		Completed	363	—	—
NCT05768386 A Long-Term Follow-Up Study in Severe Hemophilia A Subjects Who Received BMN 270 in a Prior BioMarin Clinical Trial (270-401)	Hemophilia A		By Invite	172	—	—
NCT01274026 Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders	Phenylketonuria, Behavior and Behavior Mechanisms		Completed	21	—	sapropterin dihydrochloride
NCT03449368 Lifetime Impact of Achondroplasia Study in Europe-LIAISE	Achondroplasia		Completed	196	—	—
NCT01920828 Gait Analysis in MPS IVA	MPS IVA, Morquio Syndrome		Completed	10	—	—
NCT02354664 Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease	Pompe Disease		Completed	14	—	—
NCT01016392 Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency	Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency		Completed	627	—	—
NCT01541397 Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy	Hyperphenylalaninemia, Phenylketonuria	N/A	Terminated	6	Open-label	Sapropterin
NCT05580692 A Prospective Study Evaluating Seroprevalence and Seroconversion of Antibodies Against Adeno-associated Virus (AAV)	Hemophilia A	N/A	Terminated	321	Open-label	—
NCT01753804 A Prospective Natural History Study of Progression of Subjects With Duchenne Muscular Dystrophy.	Duchenne Muscular Dystrophy		Terminated	269	—	—
NCT00728676 Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors	Phenylketonuria		Completed	10	—	—
NCT00827762 Behavioral Effects of Kuvan in Children With Mild Phenylketonuria	Phenylketonuria		Terminated	2	—	Kuvan
NCT02636686 Extension Study of Drisapersen in DMD Subjects	Duchenne Muscular Dystrophy		NO_LONGER_AVAILABLE	—	—	Drisapersen
NCT02468570 A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302	Phenylketonuria		Completed	9	—	—
NCT02583152 New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis	Mucopolysaccharidoses		Unknown	50	—	—
NCT01733615 Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA	Mucopolysaccharidosis Type IVA		Terminated	3	—	—
NCT00730080 Sapropterin in Individuals With Phenylketonuria	Phenylketonuria		Completed	45	—	Sapropterin (Kuvan)
NCT00852358 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I	Cognitive Decline, Mucopolysaccharidosis I	N/A	Completed	9	RCT, Open-label	laronidase
NCT05356377 Preliminary Study of Brain Effects of Palynziq-Related Changes in Phenylalanine in Individuals With PKU	Phenylketonurias		Completed	6	—	Pegvaliase-Pqpz
NCT01858103 BMN 110 US Expanded Access Program	Mucopolysaccharidosis IVA, Morquio A Syndrome		APPROVED_FOR_MARKETING	—	—	BMN 110
NCT00964236 The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)	Phenylketonuria		Completed	20	—	Sapropterin
NCT02156674 Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome	Maroteaux-Lamy Syndrome	N/A	Terminated	1	Open-label	Naglazyme®
NCT04452513 A Prospective Clinical Study of Phenylketonuria (PKU)	Phenylketonurias		Completed	32	—	—
NCT02353312 Rhode Island Diastolic Dysfunction - Heart Failure	Heart Failure, Cardiovascular Disease	N/A	Completed	28	RCT, Open-label	Kuvan
NCT00787995 A Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome)	MPS IV A, Mucopolysaccharidosis IVA		Terminated	353	—	—
NCT01209819 Bone Mineral Density in Adults With Hyperphenylalaninemia	Phenylketonurias		Completed	28	—	—
NCT04055051 ATHN 11: Liver Transplantation Outcomes Study	Hemophilia A and B, Liver Transplantation		Completed	86	—	—
NCT03856203 Nutrition Status of Adults With PKU Before and During Treatment With Pegvaliase	Phenylketonurias		Completed	12	—	—
NCT05314751 Learning to Live With Non-severe Haemophilia	Hemophilia		Completed	165	—	—
NCT03820804 Nutritional Status in Phenylketonuria	Phenylketonurias		Completed	94	—	Sapropterin
NCT04368624 PKU Skin Stripping	Phenylketonurias		Completed	86	—	—
NCT03150069 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them?	Morquio Disease, MPS - Mucopolysaccharidosis		Completed	18	—	—
NCT01387854 Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02	MPS VI		Completed	59	—	—
NCT00484991 Sapropterin Expanded Access Program	Phenylketonuria		APPROVED_FOR_MARKETING	—	—	Sapropterin dihydrochloride
NCT02221362 A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease	Late-onset Pompe Patients Untreated or Treated With rhGAA		Terminated	30	—	—
NCT03792451 Nutrition Status of Adults Treated With Pegvaliase	Phenylketonurias		Completed	18	—	Pegvaliase
NCT02191917 A Study of Respiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)	Late-onset Pompe Disease		Terminated	8	—	—
NCT01752296 Psychological Concomitants of Morquio Syndrome (The MAP Study)	Morquio Disease, Mucopolysaccharidosis IV		Completed	20	—	—
NCT00688844 Nutritional and Neurotransmitter Changes in PKU Subjects on BH4	Phenylketonuria		Completed	58	—	KuvanTM Therapy
NCT04560933 A Study to Evaluate Seroprevalence and Seroconversion of Antibodies to Adeno-Associated Virus (AAV) in Patients With Hemophilia A	Hemophilia A		Completed	186	—	—
NCT02208661 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy (The MAPLE Study)	Morquio A Syndrome, Mucopolysaccharidosis IV A		Completed	12	—	—
NCT02153255 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa	Mucopolysaccharidosis IV, Morquio A Disease		Withdrawn	—	—	—
NCT00214773 Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)	Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome)		Completed	237	—	—
NCT00778206 PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety Registry	Phenylketonuria, Hyperphenylalaninaemia		Completed	1,887	—	Kuvan
NCT01707433 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease	Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI		Completed	22	—	—
NCT01869972 Biological Variation of Phenylalanine in Patients With Hyperphenylalaninemia	Phenylketonuria, Hyperphenylalaninemia		Completed	32	—	—
NCT02365376 Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions	Rare Genetic Disorders		Unknown	—	—	—
NCT01141595 Tetrahydrobiopterin Treatment in Children With Idiopathic Cognitive Developmental Disorders	Autism Spectrum Disorder	N/A	Completed	10	Open-label	sapropterin dihydrochloride
NCT03872531 Lifetime Impact Study for Achondroplasia	Achondroplasia		Completed	173	—	—
NCT03505125 A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults	Phenylketonuria (PKU)		Completed	63	—	—
NCT01650909 The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical PKU	Classical Phenylketonuria(PKU)		Withdrawn	—	—	—
NCT01961518 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome	Morquio Syndrome A, Maroteaux Lamy Syndrome		Completed	17	—	—
NCT03017677 A Cross-specialty Collaboration Platform for Mucopolysaccharidosis Confirmative Diagnosis	Mucopolysaccharidoses		Unknown	100	—	—
NCT03862274 Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease	Batten Disease, CLN2		By Invite	30	—	—
NCT02963350 A Multicenter, Multi-national Open-label Program to Provide BMN 190 to Patients Diagnosed With CLN2 Disease	CLN2 Disease		APPROVED_FOR_MARKETING	—	—	BMN190, recombinant human tripeptidyl peptidase-1 (rhTPP1)
NCT02294877 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)	Mucopolysaccharidosis IV Type A, Morquio A Syndrome		Completed	418	—	Vimizim® (elosulfase alfa)