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Our Pipeline

We transform lives through genetic discovery

More Than 25 Years of Proven Clinical Success

At BioMarin, we are committed to the discovery of novel treatments. By investing heavily in pioneering research, we strive to improve the quality of life for individuals with rare genetic disorders with novel treatments. We are investigating cutting-edge therapeutic technologies in our research-focused pipeline, including gene therapies, small molecules, antisense oligonucleotides, biologics, and more.

AT A GLANCE

  Pre-IND Programs

Trials*

  Phase 1
  Phase 2
  Phase 3
  Phase 4
and Other

*The following list of clinical trials only includes those available on ClinicalTrials.gov.
Pre-IND, pre-investigational new drug.

 Learn More About Our Program Attributes

Clinical Pipeline

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Phase

Technology

Status

Musculoskeletal/
Metabolic

TRIAL PHASE

  • Product (Trial)
  • Condition
  • Technology
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) Pegvaliase1 (165-504 [PALomino])
    Recruiting
  • Condition Phenylketonuria
  • Technology Enzyme
    i
  • Phase: Pre-IND1 2 3 4

Title

A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding (PALomino)

Study Description

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.

Primary Outcome Measures

  • Pregnancy outcome and infant development for women who have been treated with Palynziq (pegvaliase) within 2 weeks of their last menstrual period

Select Inclusion Criteria*

  • Subject or legal guardian consent
  • Confirmation of ongoing pregnancy
  • Diagnosed with PKU

Secondary Outcome Measures*

  • Pregnancy outcomes
  • Serious adverse events
  • Maternal pegvaliase use during breastfeeding

Select Exclusion Criteria*

  • Currently participating in a BioMarin-sponsored interventional study
*

Additional measures/criteria apply.
PKU, phenylketonuria.

For comprehensive trial information, visit ClinicalTrials.gov NCT05579548
  • Product (Trial) Pegvaliase2 (165-501[PALace])
    Recruiting
  • Condition Phenylketonuria
  • Technology Enzyme
  • Phase: Pre-IND1 2 3 4

Title

A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)

Study Description

This is a 10-year multicenter, 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.

Primary Outcome Measure

  • To quantify and characterize the risk of protocol-defined safety events in incident-users receiving pegvaliase for the treatment of PKU in a real-world setting

Select Inclusion Criteria*

  • Documented diagnosis of PKU per local standard of care
  • Receiving or plan to receive pegvaliase treatment within 30 days of enrollment

Secondary Outcome Measure

  • To quantify and characterize the risk of protocol-defined safety events in subjects receiving pegvaliase for the treatment of PKU in a real-world setting

Select Exclusion Criteria*

  • Subject has any kind of disorder that may compromise the ability of the subject to give written informed consent
  • Currently participating in an interventional study of any investigational product, device, or procedure
*

Additional criteria apply.
PKU, phenylketonuria.

For comprehensive trial information, visit ClinicalTrials.gov NCT05813678
  • Product (Trial) Elosulfase alfa3 (110-504[MARS])
    Active, Not Recruiting
  • Condition Morquio
    Syndrome
  • Technology Enzyme
  • Phase: Pre-IND1 2 3 4

Title

A Multicenter, Multinational, Observational Morquio A Registry Study (MARS)

Study Description

The objectives of this program are as follows: to characterize and describe the mucopolysaccharidosis IV type A (MPS IVA) population as a whole, including the heterogeneity, progression, and natural history of MPS IVA; to evaluate the long-term effectiveness and safety of Vimizim® (elosulfase alfa).

Primary Outcome Measures*

  • Safety of Vimizim treated patients as measured by the incidences of adverse events, serious adverse events, and immunology tests

Select Inclusion Criteria*

  • Diagnosed with MPS IVA as confirmed by either N-acetylgalactosamine 6-sulfatase enzymatic test or by a diagnostic molecular test
  • Written informed consent

Secondary Outcome Measures

  • The MARS Pregnancy Substudy will collect safety data measured by adverse events, serious adverse events, immunology tests, and infant outcomes as measured by a live birth

Select Exclusion Criteria*

  • Patients currently participating in a BMN 110 (elosulfase alfa) clinical trial
*

Additional measures/criteria apply.

For comprehensive trial information, visit ClinicalTrials.gov NCT02294877
  • Product (Trial) Pegvaliase4 (165-306 [PEGASUS])
    Recruiting
  • Condition Phenylketonuria
  • Technology Enzyme
  • Phase: Pre-IND1 2 3 4

Title

Study to Evaluate the Safety and Efficacy of Pegvaliase in Adolescents (Ages 12-17) With Phenylketonuria (PEGASUS)

Study Description

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.

Primary Outcome Measures

  • Change in blood Phe concentration
  • Incidence of treatment-emergent adverse events as assessed by CTCAE v5.0

Select Inclusion Criteria*

  • Must be 12 to 17 years old
  • Signed informed consent

Secondary Outcome Measure*

  • Change in total dietary protein intake

Select Exclusion Criteria*

  • Previous treatment with pegvaliase
  • Use of any medication that is intended to treat PKU within 14 days prior to administration
*

Additional measures/criteria apply.
CTCAE v5.0, Common Terminology Criteria for Adverse Events version 5.0; Phe, phenylalanine; PKU, phenylketonuria.

For comprehensive trial information, visit ClinicalTrials.gov NCT05270837
  • Product (Trial) Vosoritide5 (111-302)
    Active, Not Recruiting
  • Condition Achondroplasia
  • Technology Peptide
    i
  • Phase: Pre-IND1 2 3 4

Title

An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia

Study Description

This Phase 3, open-label, long-term extension study is intended and designed to assess BMN 111 (vosoritide) as a therapeutic option for the treatment of children with achondroplasia.

Primary Outcome Measure

  • Change from baseline in mean annualized growth velocity

Select Inclusion Criteria*

  • Must have completed Study 111-301
  • Females ≥10 years old, or those with menses, need negative pregnancy tests at baseline and during the study

Secondary Outcome Measures*

  • Changes in health-related quality of life
  • Potential changes in daily activity performance
  • Characterize maximum concentration of vosoritide in plasma

Select Exclusion Criteria*

  • Permanently discontinued vosoritide or placebo prior to completion of Study 111-301
  • Have a clinically significant finding that indicates abnormal cardiac function
  • Evidence of slowed growth of at least 6 months or closed growth plates in lower extremity X-rays
For comprehensive trial information, visit ClinicalTrials.gov NCT03424018
  • Product (Trial) Vosoritide6 (111-205)
    Active, Not Recruiting
  • Condition Achondroplasia
  • Technology Peptide
  • Phase: Pre-IND1 2 3 4

Title

A Study to Evaluate Long-Term Safety, Tolerability, and Efficacy of BMN 111 in Children With Achondroplasia (ACH)

Study Description

This Phase 2, open-label, extension study evaluates the long-term safety, tolerability, and efficacy of BMN 111 (vosoritide) in children with achondroplasia.

Primary Outcome Measure

  • Incidence of treatment-emergent adverse events

Select Inclusion Criteria*

  • Have completed 24 months of vosoritide treatment in Study 111-202
  • Parent/guardian provides informed written consent if required
  • If sexually active, must be willing to use a highly effective method of contraception while participating in the study

Secondary Outcome Measures*

  • Annualized growth velocity
  • Height standard score

Select Exclusion Criteria*

  • Requires any investigational agent prior to completion of study period
  • Have a condition or circumstance that places the subject at high risk during this study
*

Additional measures/criteria apply.

For comprehensive trial information, visit ClinicalTrials.gov NCT02724228
  • Product (Trial) Vosoritide7 (111-208)
    Active, Not Recruiting
  • Condition Achondroplasia
  • Technology Peptide
  • Phase: Pre-IND1 2 3 4

Title

An Extension Study to Evaluate Safety and Efficacy of BMN 111 in Children With Achondroplasia

Study Description

This Phase 2, open-label, multicenter, long-term extension study, with approximately 70 subjects, evaluates the safety and efficacy of BMN 111 (vosoritide) in children with achondroplasia until subjects reach near-adult final height.

Primary Outcome Measures

  • Evaluate the incidence of treatment-emergent adverse events
  • Evaluate change in height/length z-score in children with ACH treated with vosoritide

Select Inclusion Criteria*

  • Must have completed Study 111-206 on investigational treatment
  • Parent/guardian provides informed written consent if required

Secondary Outcome Measures*

  • Evaluate the change from baseline in mean annualized growth velocity
  • Characterize maximum concentration

Select Exclusion Criteria*

  • Permanently discontinued vosoritide or placebo prior to completion of Study 111-206
  • Have a clinically significant finding or arrhythmia on ECG that indicates abnormal cardiac function or conduction or QTc-F >450 msec
*

Additional measures/criteria apply.
ACH, achondroplasia; ECG, electrocardiogram; QTcF, corrected QT interval by Fridericia.

For comprehensive trial information, visit ClinicalTrials.gov NCT03989947
  • Product (Trial) Vosoritide8 (111-209)
    Active, Not Recruiting
  • Condition Achondroplasia
  • Technology Peptide
  • Phase: Pre-IND1 2 3 4

Title

A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia

Study Description

This is a Phase 2 randomized, open-label clinical trial of BMN 111 (vosoritide) in infants and young children with a diagnosis of achondroplasia at a heightened risk of requiring cervicomedullary decompression surgery.

Primary Outcome Measure

  • Incidence of treatment-emergent adverse events

Select Inclusion Criteria*

  • Parent/guardian provides informed written consent if required
  • Have ACH, documented by genetic testing

Secondary Outcome Measure*

  • Evaluate the effect of vosoritide on total foramen magnum volume

Select Exclusion Criteria*

  • Have hypochondroplasia or short-stature condition other than achondroplasia
  • Have CMC that either does not require surgical intervention or does require immediate surgical intervention
*

Additional measures/criteria apply.
ACH, achondroplasia; CMC, cervicomedullary compression.

For comprehensive trial information, visit ClinicalTrials.gov NCT04554940
  • Product (Trial) Vosoritide9 (111-104)
    Recruiting
  • Condition Achondroplasia
  • Technology Peptide
  • Phase: Pre-IND1 2 3 4

Title

Bioequivalence Study to Compare Two Injection Devices for BMN 111 in Healthy Participants

Study Description

The purpose of this Phase 1, randomized, open-label, two-sequence, two-period crossover study is to establish the bioequivalence of a single SC dose of BMN 111 (vosoritide) using a vial and syringe versus an injector pen.

Primary Outcome Measures

  • Maximum observed drug concentration
  • Area under the concentration versus time curve from time 0 to infinity
  • Area under the concentration vs time curve from time 0 to t, where t is the lost time point with a measurable concentration

Select Inclusion Criteria*

  • Participants must be aged 18 to 55 years inclusive
  • Participants must be non-smoking and con be of any ethnicity

Secondary Outcome Measures*

  • Time to Cmax
  • Time of t1/2
  • Time of terminal rate constant
  • Incidence and severity of adverse events

Select Exclusion Criteria*

  • Any condition considered to affect drug absorption
  • Significant history or clinical manifestation of physical and/or mental health problems
  • History of hypersensitivity, intolerance, or allergy to any drug, food, or other substance
*

Additional measures/criteria apply.
Cmax, maximum concentration; SC, subcutaneous; t1/2, half-life.

For comprehensive trial information, visit ClinicalTrials.gov NCT05813314

PRECLINICAL PHASE

  • Product (Trial)
  • Condition
  • Technology
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) BMN 351
    Not Started
  • Condition Duchenne Muscular
    Dystrophy
  • Technology Antisense
    Oligonucleotide
    i
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) BMN 349 A1ATD
    Not Started
  • Condition A1AT Deficiency
  • Technology Small Molecule
    i
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) BMN 333 Long-acting CNP
    Not Started
  • Condition Achondroplasia
  • Technology Peptide
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) MSK*
    Not Started
  • Condition N/A
  • Technology Antisense
    Oligonucleotide
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) MSK*
    Not Started
  • Condition N/A
  • Technology Antisense
    Oligonucleotide
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) MSK*
    Not Started
  • Condition N/A
  • Technology Antisense
    Oligonucleotide
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) MSK*
    Not Started
  • Condition N/A
  • Technology Antisense
    Oligonucleotide
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) MSK*
    Not Started
  • Condition N/A
  • Technology Gene Therapy
    i
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) Metabolic*
    Not Started
  • Condition N/A
  • Technology Biologic
    i
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) Metabolic*
    Not Started
  • Condition N/A
  • Technology Biologic
  • Phase: Pre-IND1 2 3 4
*

These product candidates are currently in the preclinical phase and investigational drug names have not been established.

A1ATD, alpha-1 antitrypsin deficiency; CNP, C-natriuretic peptide; MSK, musculoskeletal; N/A, not available.

Non-Oncology Hematology

TRIAL PHASE

  • Product (Trial)
  • Condition
  • Technology
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) Valoctocogene roxaparvovec-rvox10 (270-401)
    Enrolling by Invitation
  • Condition Hemophilia A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4

Title

A Long-Term Follow-Up Study in Severe Hemophilia A Subjects Who Received BMN 270 in a Prior BioMarin Clinical Trial (270-401)

Study Description

The BMN 270 (valoctocogene-roxaparvovec-rvox) clinical development program consists of multiple interventional studies designed to assess the safety and efficacy of a single infusion of valoctocogene-roxaparvovec-rvox for at least 5 years post-infusion. This long-term follow-up study is needed to help further understand the long-term safety of valoctocogene-roxaparvovec-rvox beyond 5 years and to assess the durability of efficacy.

Primary Outcome Measure

  • Evaluate the long-term safety of valoctocogene-roxaparvovec-rvox

Select Inclusion Criteria*

  • Subjects must have completed their primary treatment study
  • Subjects must be capable of giving signed informed consent

Secondary Outcome Measures*

  • Evaluate the long-term effects of valoctocogene-roxaparvovec-rvox in subjects with hemophilia A previously treated in a BioMarin clinical trial
  • Evaluate the use of hemostatic agents

Select Exclusion Criteria*

  • Subjects must enroll in Study 270-401 within 4 months of the date of that study completion visit
  • Subjects must be healthy and not have a condition that would interfere with interpretation of the study
*

Additional measures/criteria apply.

For comprehensive trial information, visit ClinicalTrials.gov NCT05768386
  • Product (Trial) Valoctocogene roxaparvovec-rvox11 (270-701 [SAAVY])
    Active, Not Recruiting
  • Condition Hemophilia A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4

Title

A Study to Evaluate Seroprevalence and Seroconversion of Antibodies to Adeno-Associated Virus (AAV) in Patients With Hemophilia A (SAAVY)

Study Description

To quantify the seroprevalence of antibodies to AAV5, AAV6, and AAV8 and the seroconversion rate over varying follow-up intervals in subjects with hemophilia A.

Primary Outcome Measure

  • Assess the seroprevalence of antibodies to AAV vectors in patients with hemophilia A

Select Inclusion Criteria*

  • Subjects diagnosed with hemophilia A
  • Subjects aged 18 years or over at time of entry

Secondary Outcome Measure

  • Describe and characterize AAV vector titer values in subjects with hemophilia A

Select Exclusion Criteria*

  • Currently participating in an interventional study of any investigational product, device, or procedure
  • Subjects who have been previously treated with AAV vector gene therapy
*

Additional criteria apply.

For comprehensive trial information, visit ClinicalTrials.gov NCT04560933
  • Product (Trial) Valoctocogene roxaparvovec-rvox12 (270-702)
    Recruiting
  • Condition Hemophilia A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4

Title

A Prospective Study Evaluating Seroprevalence and Seroconversion of Antibodies Against Adeno-associated Virus (AAV)

Study Description

A prospective cohort study utilizing biospecimen sample collection from adult hemophilia A subjects to evaluate and characterize seroprevalence and the seroconversion of antibodies against AAV serotypes.

Primary Outcome Measure

  • Number of patients with detectable antibodies to selected AAV serotypes

Select Inclusion Criteria*

  • Adult subjects with hemophilia A

Secondary Outcome Measure

  • To describe and characterize selected AAV serotypes antibody responses in adult subjects with hemophilia A

Select Exclusion Criteria*

  • Subject previously treated with AAV vector gene therapy
*

Additional criteria apply.

For comprehensive trial information, visit ClinicalTrials.gov NCT05580692
  • Product (Trial) Valoctocogene roxaparvovec-rvox13 (270-301 [GENEr8-1])
    Active, Not Recruiting
  • Condition Hemophilia A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4

Title

Single-Arm Study To Evaluate The Efficacy and Safety of Valoctocogene Roxaparvovec in Hemophilia A Patients (BMN 270-301)

Study Description

This Phase 3 clinical study assesses the efficacy of valoctocogene-roxaparvovec-rvox (BMN 270), defined as FVIII activity, during weeks 49 to 52 following intravenous infusion. The impact of valoctocogene-roxaparvovec-rvox on usage of exogenous FVIII replacement therapy and the number of bleeding episodes from week 5 to last visit by data cutoff are also assessed.

Primary Outcome Measure

  • Change from baseline in median FVIII activity

Select Inclusion Criteria*

  • Males ≥18 years of age with hemophilia A
  • Residual FVIII levels ≤1 IU/dL

Secondary Outcome Measures*

  • Change from baseline in utilization of FVIII replacement therapy
  • Change from baseline in number of bleeding episodes requiring FVIII replacement treatment

Select Exclusion Criteria*

  • Detectable pre-existing antibodies to the AAV5 capsid
  • Active infection or any immunosuppressive disorder, including HIV infection
  • Significant liver dysfunction
*

Additional measures/criteria apply.
AAV, adeno-associated virus; FVIII, factor VIII; HIV, human immunodeficiency virus.

For comprehensive trial information, visit ClinicalTrials.gov NCT03370913
  • Product (Trial) Valoctocogene roxaparvovec-rvox14 (270-302 [GENEr8-2])
    Active, Not Recruiting
  • Condition Hemophilia A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4

Title

Single-Arm Study to Evaluate the Efficacy and Safety of Valoctocogene Roxaparvovec in Hemophilia A Patients at a Dose of 4E13 vg/​kg (BMN270-302)

Study Description

This Phase 3 clinical study assesses the efficacy of valoctocogene-roxaparvovec-rvox (BMN 270), defined as FVIII activity, during weeks 49 to 52 following intravenous infusion. The impact of valoctocogene-roxaparvovec-rvox on usage of exogenous FVIII replacement therapy and the number of bleeding episodes from week 5 to week 52 are also assessed.

Primary Outcome Measure

  • Change in median FVIII activity over 52 weeks

Select Inclusion Criteria*

  • Males ≥18 years of age with hemophilia A
  • Residual FVIII levels ≤1 IU/dL

Secondary Outcome Measures*

  • Change in utilization of FVIII replacement therapy
  • Change in number of bleeding episodes requiring FVIII replacement treatment

Select Exclusion Criteria*

  • Detectable pre-existing antibodies to the AAV5 capsid
  • Active infection or any immunosuppressive disorder, including HIV infection
  • Significant liver dysfunction
*

Additional measures/criteria apply.
AAV, adeno-associated virus; FVIII, factor VIII; HIV, human immunodeficiency virus.

For comprehensive trial information, visit ClinicalTrials.gov NCT03392974
  • Product (Trial) Valoctocogene roxaparvovec-rvox15 (GENEr8-3)
    Active, Not Recruiting
  • Condition Hemophilia A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4

Title

Study to Evaluate the Efficacy and Safety of Valoctocogene Roxaparvovec, With Prophylactic Steroids in Hemophilia A (GENEr8-3)

Study Description

This Phase 3, single-arm, open-label clinical study evaluates the safety and effectiveness of valoctocogene-roxaparvovec-rvox (BMN 270) in combination with prophylactic corticosteroids in patients with severe hemophilia A.

Primary Outcome Measure

  • Change in median FVIII activity over 52 weeks

Select Inclusion Criteria*

  • Males ≥18 years of age with hemophilia A
  • Documented residual FVIII activity ≤1 IU/dL

Secondary Outcome Measures*

  • Change in the utilization of FVIII replacement therapy or emicizumab
  • Change in the number of bleeding episodes requiring FVIII replacement treatment

Select Exclusion Criteria*

  • Detectable pre-existing antibodies to the AAV5 capsid
  • Active infection or immunosuppressive disorder (patients with HIV and undetectable viral load are not excluded)
*

Additional measures/criteria apply.
AAV, adeno-associated virus; FVIII, factor VIII; HIV, human immunodeficiency virus.

For comprehensive trial information, visit ClinicalTrials.gov NCT04323098
  • Product (Trial) Valoctocogene roxaparvovec-rvox16 (270-201)
    Active, Not Recruiting
  • Condition Hemophilia A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4

Title

Gene Therapy Study in Severe Haemophilia A Patients (270-201)

Study Description

This Phase 1/2, open-label, dose-escalation study is being conducted by BioMarin to determine the safety and efficacy of valoctocogene-roxaparvovec-rvox, an adenovirus-associated virus–based gene therapy, in participants with severe haemophilia A.

Primary Outcome Measures

  • Treatment-related adverse events over 85 months
  • Dose of valoctocogene-roxaparvovec-rvox required to achieve FVIII ≥5% of normal activity

Select Inclusion Criteria*

  • Males ≥18 years of age with hemophilia A
  • Endogenous FVIII levels ≤1 IU/dL

Secondary Outcome Measures*

  • Describe the immune response to the FVIII transgene product and AAV capsid proteins
  • Frequency of FVIII replacement treatment

Select Exclusion Criteria*

  • Detectable pre-existing antibodies to the AAV5 capsid
  • Active infection or immunosuppressive disorder including hepatitis B, hepatitis C, and HIV
  • Significant liver dysfunction
*

Additional measures/criteria apply.
AAV, adeno-associated virus; FVIII, factor VIII; HIV, human immunodeficiency virus.

For comprehensive trial information, visit ClinicalTrials.gov NCT02576795
  • Product (Trial) Valoctocogene roxaparvovec-rvox17 (270-203 [GENEr8-AAV5+])
    Recruiting
  • Condition Hemophilia A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4

Title

Gene Therapy Study in Severe Hemophilia A Patients With Antibodies Against AAV5 (270-203)

Study Description

This Phase 1/2, open-label, single-dose study is being conducted by BioMarin to determine the safety of valoctocogene-roxaparvovec-rvox, an adenovirus-associated virus–based gene therapy vector, in patients with severe hemophilia A and pre-existing antibodies against AAV5.

Primary Outcome Measure

  • Safety in patients with pre-existing antibody to AAV5 vector capsid

Select Inclusion Criteria*

  • Males ≥18 years of age with hemophilia A
  • Endogenous FVIII levels ≤1 IU/dL

Secondary Outcome Measures*

  • Efficacy defined as FVIII activity
  • Impact of FVIII replacement treatment

Select Exclusion Criteria*

  • Active infection or any immunosuppressive disorder, including COVID-19, except for HIV
  • Significant liver dysfunction
*

Additional measures/criteria apply.
AAV, adeno-associated virus; FVIII, factor VIII; HIV, human immunodeficiency virus.

For comprehensive trial information, visit ClinicalTrials.gov NCT03520712
  • Product (Trial) Valoctocogene roxaparvovec-rvox18 (GENEr8-INH)
    Recruiting
  • Condition Hemophilia A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4

Title

Safety, Tolerability, and Efficacy Study of Valoctocogene Roxaparvovec in Hemophilia A With Active or Prior Inhibitors

Study Description

This Phase 1/2 clinical study will evaluate the safety and efficacy of valoctocogene-roxaparvovec-rvox (BMN 270) in patients with severe hemophilia A and inhibitors to FVIII. Part A of the study will include subjects who have active inhibitors to FVIII, and Part B will include subjects with a prior history of inhibitors.

Primary Outcome Measure

  • Treatment-related adverse events over 60 months

Select Inclusion Criteria*

  • Males ≥18 years of age with hemophilia A
  • Documented prior residual FVIII activity ≤1 IU/dL

Secondary Outcome Measures*

  • Change in median FVIII activity
  • Change in FVIII inhibiter titer
  • Absence of recurrence of FVIII inhibitors

Select Exclusion Criteria*

  • Detectable pre-existing antibodies to the AAV5 capsid
  • Active infection or immunosuppressive disorder (patients with HIV and undetectable viral load are not excluded)
  • Receiving immune tolerance induction therapy or prophylaxis with FVIII (Part A only)
*

Additional measures/criteria apply.
AAV, adeno-associated virus; FVIII, factor VIII; HIV, human immunodeficiency virus.

For comprehensive trial information, visit ClinicalTrials.gov NCT04684940

PRECLINICAL PHASE

  • Product (Trial)
  • Condition
  • Technology
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) HEM*
    Not Started
  • Condition N/A
  • Technology Biologic
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) HEM*
    Not Started
  • Condition N/A
  • Technology Antisense
    Oligonucleotide
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) HEM*
    Not Started
  • Condition N/A
  • Technology Antisense
    Oligonucleotide
  • Phase: Pre-IND1 2 3 4
*

These product candidates are currently in the preclinical phase and investigational drug names have not been established.

HEM, hematology; N/A, not available.

Cardiovascular

PRECLINICAL PHASE

  • Product (Trial)
  • Condition
  • Technology
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) BMN 293
    Not Started
  • Condition MYBPC3
    Hypertrophic
    Cardiomyopathy
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) BMN 355
    Not Started
  • Condition Long QT Syndrome
  • Technology Antibody
    i
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) BMN 365
    Not Started
  • Condition PKP2
    Arrhythmogenic
    Cardiomyopathy
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CV*
    Not Started
  • Condition N/A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CV*
    Not Started
  • Condition N/A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CV*
    Not Started
  • Condition N/A
  • Technology Antisense
    Oligonucleotide
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CV*
    Not Started
  • Condition N/A
  • Technology Antisense
    Oligonucleotide
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CV*
    Not Started
  • Condition N/A
  • Technology Antibody
  • Phase: Pre-IND1 2 3 4
*

These product candidates are currently in the preclinical phase and investigational drug names have not been established.

CV, cardiovascular; MYBPC3, cardiac myosin-binding protein C3; N/A, not available; PKP2, plakophilin-2 gene.

Central Nervous System

TRIAL PHASE

  • Product (Trial)
  • Condition
  • Technology
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) Cerliponase alfa19 (190-501)
    Recruiting
  • Condition CLN2 Disease
  • Technology Enzyme
  • Phase: Pre-IND1 2 3 4

Title

Cerliponase Alfa Observational Study in the US

Study Description

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 cerliponase alfa.

Primary Outcome Measure

  • To evaluate the long-term safety of cerliponase alfa in patients with neuronal ceroid lipofuscinosis type 2

Select Inclusion Criteria*

  • Diagnosed with CLN2 disease
  • Currently receiving or plan to begin treatment with cerliponase alfa
  • Parent/guardian provides informed written consent if required

Secondary Outcome Measures

  • Hypersensitivity
  • Impact of severe adverse events on motor and language functions

Select Exclusion Criteria*

  • Currently receiving treatment in another investigational device or drug study
*

Additional criteria apply.
TPP1, tripeptidyl peptidase 1.

For comprehensive trial information, visit ClinicalTrials.gov NCT04476862

PRECLINICAL PHASE

  • Product (Trial)
  • Condition
  • Technology
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CNS AAV*
    Not Started
  • Condition N/A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CNS AAV*
    Not Started
  • Condition N/A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CNS AAV*
    Not Started
  • Condition N/A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CNS AAV*
    Not Started
  • Condition N/A
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CNS*
    Not Started
  • Condition N/A
  • Technology Antisense
    Oligonucleotide
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CNS*
    Not Started
  • Condition N/A
  • Technology Antisense
    Oligonucleotide
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CNS*
    Not Started
  • Condition N/A
  • Technology Antisense
    Oligonucleotide
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) CNS*
    Not Started
  • Condition N/A
  • Technology Biologic
  • Phase: Pre-IND1 2 3 4
*

These product candidates are currently in the preclinical phase and investigational drug names have not been established.

AAV, adeno-associated virus; CLN2, late infantile neuronal ceroid lipofuscinosis type 2; CNS, central nervous system; N/A, not available.

Other

TRIAL PHASE

  • Product (Trial)
  • Condition
  • Technology
  • Phase: Pre-IND1 2 3 4
  • Product (Trial) BMN 33120 (331-201 [HAErmony-1])
    Recruiting
  • Condition Hereditary
    Angioedema
  • Technology Gene Therapy
  • Phase: Pre-IND1 2 3 4

Title

A Gene Therapy Study of BMN 331 in Subjects With Hereditary Angioedema (HAErmony-1)

Study Description

This is a Phase 1/2, single-arm, open-label, dose-escalation and dose-expansion study of BMN 331 for the treatment of hereditary angioedema (HAE) due to C1 esterase inhibitor (C1-INH) protein deficiency.

Primary Outcome Measure

  • Number of participants with treatment-emergent adverse events following a single IV administration of BMN 331

Select Inclusion Criteria*

  • Adults ≥18 years old
  • Confirmed diagnosis of HAE due to C1-INH deficiency

Secondary Outcome Measures*

  • Number and severity of investigator-confirmed HAE attacks
  • Annualized use of HAE medication
  • Plasma levels of functional C1-INH following BMN 331 infusion

Select Exclusion Criteria*

  • Evidence of an active or chronic infection
  • Contraindication to using glucocorticosteroids
  • Prior gene therapy treatment
*

Additional measures/criteria apply.

For comprehensive trial information, visit ClinicalTrials.gov NCT05121376

No Results Found

Please update your filter criteria.

References: 1. ClinicalTrials.gov. A global, multicenter study to assess maternal, fetal and infant outcomes of exposure to Palynziq® (pegvaliase) during pregnancy and breastfeeding (PALomino). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT05579548 2. ClinicalTrials.gov. A long-term, post-marketing safety study of Palynziq in patients with PKU (PALace). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT05813678 3. ClinicalTrials.gov. A multicenter, multinational, observational Morquio A Registry Study (MARS). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT02294877 4. ClinicalTrials.gov. Study to evaluate the safety and efficacy of pegvaliase in adolescents (ages 12-17) with phenylketonuria (PEGASUS). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT05270837 5. ClinicalTrials.gov. An extension study to evaluate the efficacy and safety of BMN 111 in children with achondroplasia (ACH). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT03424018 6. ClinicalTrials.gov. A study to evaluate long-term safety, tolerability, & efficacy of BMN 111 in children with achondroplasia (ACH). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT02724228 7. ClinicalTrials.gov. An extension study to evaluate safety and efficacy of BMN 111 in children with achondroplasia. Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT03989947 8. ClinicalTrials.gov. A clinical trial to evaluate safety of vosoritide in at-risk infants with achondroplasia. Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT04554940 9. ClinicalTrials.gov. Bioequivalence study to compare two injection devices for BMN 111 in healthy participants. Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT05813314 10. ClinicalTrials.gov. A long-term follow-up study in severe hemophilia A subjects who received BMN 270 in a prior BioMarin clinical trial (270-401). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT05768386 11. ClinicalTrials.gov. A study to evaluate seroprevalence and seroconversion of antibodies to adeno-associated virus (AAV) in patients with hemophilia A (SAAVY). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT04560933 12. ClinicalTrials.gov. A prospective study evaluating seroprevalence and seroconversion of antibodies against adeno-associated virus (AAV). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT05580692 13. ClinicalTrials.gov. Single-arm study to evaluate the efficacy and safety of valoctocogene roxaparvovec in hemophilia A patients (BMN 270-301). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT03370913 14. ClinicalTrials.gov. Single-arm study to evaluate the efficacy and safety of valoctocogene roxaparvovec in hemophilia A patients at a dose of 4E13 vg/kg (BMN 270-302). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/study/NCT03392974 15. ClinicalTrials.gov. Study to evaluate the efficacy and safety of valoctocogene roxaparvovec, with prophylactic steroids in hemophilia A (GENEr8-3). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT04323098 16. ClinicalTrials.gov. Gene therapy study in severe hemophilia A patients (270-201). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT02576795 17. ClinicalTrials.gov. Gene Therapy study in severe hemophilia patients with antibodies against AAV5 (270-203). ClinicalTrials.gov. Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/study/NCT03520712 18. ClinicalTrials.gov. Safety, tolerability, and efficacy study of valoctocogene roxaparvovec in hemophilia A with active or prior inhibitors. Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/study/NCT04684940 19. ClinicalTrials.gov. Cerliponase alfa observational study in the US. Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT04476862 20. ClinicalTrials.gov. A gene therapy study of BMN 331 in subjects with hereditary angioedema (HAErmony-1). Accessed August 17, 2023. https://clinicaltrials.gov/ct2/show/NCT05121376 21. de la Fuente M, Lombardero L, Gómez-González A, et al. Enzyme therapy: Current challenges and future perspectives. Int J Mol Sci. 2021;22:9181. 22. Xiao YF, Jie MM, Li BS, et al. Peptide-based treatment: A promising cancer therapy. J Immunol Res. 2015;2015:761820. 23. Gokhale AS, Satyanarayanajois S. Peptides and peptidomimetics as immunomodulators. Immunotherapy. 2014;6(6):755-774. 24. Mitkin NA, Pavshintcev VV, Sukhanova IA, et al. The novel peptide Chm-273s has therapeutic potential for metabolic disorders: Evidence from in vitro studies and high-sucrose diet and high-fat diet rodent models. Pharmaceutics. 2022;14:2088. 25. Li Q, Kang C. Mechanisms of action for small molecules revealed by structural biology In drug discovery. Int J Mol Sci. 2020;21:5262. 26. Cao J, Zhou Y, Peng H, et al. Targeting Acyl-CoA:diacylglycerol acyltransferase 1 (DGAT1) with small molecule inhibitors for the treatment of metabolic diseases. J Biol Chem. 2011;286(48):41838-41851. 27. Bajan S, Hutvagner G. RNA-based therapeutics: From antisense oligonucleotides to miRNAs. Cells. 2020;9:137. 28. Hill SF, Meisler MH. Antisense oligonucleotide therapy for neurodevelopmental disorders. Dev Neurosci. 2021;43(3-4):247-252. 29. Gonçalves GAR, de Melo Alves Paiva R. Gene therapy: Advances, challenges, and perspectives. Einstein (Sao Paulo). 2017;15(3):369-375. 30. Papież MA, Krzyściak W. Biological therapies in the treatment of cancer—update and new directions. Int J Mol Sci. 2021;22:11694. 31. Rosman Z, Shoenfeld Y, Zandman-Goddard G. Biologic therapy for autoimmune diseases: An update. BMC Med. 2013;11:88. 32. Salazar G, Zhang N, Fu TM, Zhiqiang A. Antibody therapies for the prevention and treatment of viral infections. NPJ Vaccines. 2017;2:19.

Updated September 2023

All BioMarin Programs Adhere to 4 Core Attributes

  1. Using genetic discoveries and tools to obtain a clear understanding of underlying disease mechanisms
  2. Developing targeted therapies that address the fundamental defect of the disease
  3. Assessable biomarkers/endpoints that yield clear, reliable efficacy results in clinical trials
  4. A transformational impact on patients’ lives by improving the way they feel, function, and survive
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