BioMarin Pharmaceutical

Study 165-401 is a Phase 4, open-label study designed to examine the concomitant use of methotrexate (MTX) to suppress immune responses to Palynziq and improve tolerability and efficacy in adults with PKU.

This is a multicenter, multinational, randomized, active-controlled, operationally seamless Phase 2/3 study of BMN 333 in treatment-naïve pediatric participants with achondroplasia (ACH). The study consists of a Phase 2 part and a Phase 3 part.

This is an observational study of individuals with achondroplasia in the United States. The primary study population consists of pediatric individuals treated and untreated with VOXZOGO™. Study enrollment started in February 2023. The projected total duration of the study is approximately 5 years at minimum from start of study recruitment in February 2023, with the duration of individual prospective follow-up differing depending on the time of enrollment. The study duration may be extended based on decisions by the study sponsor. Data will be collected in two formats for the primary pediatric study population: 1. Participant-mediated access to electronic health records(including medical imaging, when available) which will enable retrospective and prospective collection of secondary data reflecting real-life treatment use and clinical care. . 2. Primary data collection of Clinical Outcome Assessments (COAs) and questionnaire data. Data will be collected in the following format for the adult cohort: \- Participant-mediated access to electronic health records (including medical imaging, when available) which will enable retrospective and prospective collection of secondary data reflecting real-life treatment use and clinical care. The primary study population will include approximately 150 pediatric individuals with achondroplasia regardless of their treatment status with VOXZOGO™. Individuals may change status from untreated to treated during the prospective period of the study (or vice versa) however they will only be counted once, based on their treated status at the point of enrollment. The secondary study population will include 20 adolescent and adult participants.Show more

The purpose of this study is to create an electronic registry to house phenotypic information from patients with achondroplasia. The initial focus of this registry will be to include U.S. patients with achondroplasia. Once populated, the collective data can be queried to pursue clinical research questions pertaining to health outcomes and treatment options for patients with this conditions. The registry is longitudinal in nature with the functionality to retrospectively enter patients' clinical data from the prenatal period up through the most recent encounter, with all intervening data entered in a chronologic fashion.Show more

This is a 10-year multi-center, 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. Subjects for whom a clinical decision has been made that they will receive pegvaliase to treat their PKU within 30 days following the date of enrollment (incident-users) or have previously started treatment with pegvaliase at the date of enrollment (prevalent-users) are eligible for participation in this study.Show more

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.

This is a 10-year multi-center, prospective, longitudinal, single arm study evaluating immunologic, inflammatory and laboratory parameters associated with long-term Palynziq treatment in subjects with phenylketonuria (PKU) in the United States (US). Subjects in the US for whom a clinical decision has been made that they will receive pegvaliase to treat their PKU within 30 days following the date of enrollment in Study 165-501 (incident-users) or who have previously started treatment with pegvaliase at the date of enrollment in Study 165-501 (prevalent-users) are eligible for participation in Study 165-503.Show more

Phenylketonuria (PKU) is an inherited metabolic disorder that impairs the metabolism of the essential amino acid phenylalanine (Phe). Without stringent dietary control, Phe accumulates in the blood and brain of PKU patients, leading to severe cognitive deficits. Achieving metabolic control, defined as blood Phe levels within the range of 120-360 μmol/L, has been a significant challenge for PKU patients using traditional diet therapy. The new FDA approved pharmacologic treatment, Palynziq, offers a new approach that could significantly reduce the burden of PKU by improving blood Phe levels and allowing for a less restrictive diet. As little is known about the global metabolic and physiologic effects of Palynziq, the present study aims to capture changes in diet quality, neurological health, nutritional status, the nutritional metabolome, and patient perceptions of mental and social health with sustained Palynziq therapy.Show more

BioMarin Pharmaceutical is one of the foundational rare disease companies of the modern biotech era. Founded in 1997 and headquartered in San Rafael, California, BioMarin trades on the NASDAQ under the ticker BMRN. The company built its early business by manufacturing recombinant enzymes for patients with rare lysosomal storage disorders, conditions where a missing enzyme allows toxic substances to accumulate inside cells. From that base, BioMarin has expanded into gene therapy, oral small molecules, and now a substantially larger portfolio following the acquisition of Amicus Therapeutics in April 2026.

The marketed portfolio spans several rare disease categories. Voxzogo (vosoritide) is approved for children with achondroplasia, the most common form of disproportionate short stature, and works by targeting the underlying signaling pathway disrupted by the FGFR3 mutation that causes the disease. Brineura (cerliponase alfa) treats CLN2 disease, a rare and severe pediatric form of Batten disease, by replacing the missing TPP1 enzyme directly into the brain. For phenylketonuria (PKU), an inherited disorder where patients cannot process the amino acid phenylalanine, BioMarin sells Palynziq (pegvaliase) and Kuvan (sapropterin), each suited to a different part of the patient population. The company also markets enzyme replacement therapies for several mucopolysaccharidoses, the lysosomal storage diseases known collectively as MPS. Those drugs are Naglazyme for MPS VI, Vimizim for MPS IVA (also called Morquio A), and Aldurazyme for MPS I. Roctavian (valoctocogene roxaparvovec), a gene therapy approved in 2023 for severe hemophilia A, was voluntarily withdrawn from the market in February 2026 after BioMarin was unable to find a buyer for it; the company said the decision was unrelated to the therapy's efficacy or safety and that it would continue to support patients already treated.

On April 27, 2026, BioMarin completed its $4.8 billion all-cash acquisition of Amicus Therapeutics at $14.50 per share. The deal added two important assets to BioMarin's portfolio. Galafold (migalastat) is the first oral treatment for Fabry disease, with U.S. exclusivity running through 2037. Pombiliti + Opfolda (cipaglucosidase alfa + miglustat) is a two-component therapy for late-onset Pompe disease. The acquisition also brought BioMarin U.S. rights to DMX-200, now called BMN 820, an investigational small molecule for focal segmental glomerulosclerosis (FSGS), a rare and progressive kidney disease. Its Phase 3 ACTION3 trial is ongoing, with pivotal data expected in 2028.

The strategic case for the Amicus deal is straightforward. Both companies focus on lysosomal storage disorders, and BioMarin's larger commercial infrastructure and global manufacturing footprint can deliver Galafold, Pombiliti, and Opfolda to more patients in more countries than Amicus could alone. Combined, the company now has a deeper rare disease portfolio and a clearer growth trajectory while keeping its identity grounded in the same patient communities it has served since its founding.

On September 1, 2026, BioMarin closed a second, smaller acquisition, buying Alesta Therapeutics for $275 million upfront plus up to $215 million in later payments tied to development and regulatory milestones. The deal was essentially for one asset. ALE1 is an oral small molecule in Phase 1/2a testing for hypophosphatasia (HPP), a rare inherited bone disease caused by mutations in the ALPL gene that can lead to frequent fractures, early tooth loss, and, in adults, muscle weakness, fatigue, and pain. The treatments available for HPP today are injected, so an oral option would change how the disease is managed. BioMarin said ALE1 joins its Skeletal Conditions Business Unit, the unit that also sells Voxzogo. Alesta spun out its other programs into a separate company before the deal closed, and no Alesta employees moved to BioMarin.

BioMarin Pharmaceutical has 6 FDA-approved drugs with a rare disease use that we track, as of November 2026.

Voxzogo (vosoritide), approved 2021: Achondroplasia.

Palynziq (pegvaliase-pqpz), approved 2018: Phenylketonuria.

Brineura (cerliponase alfa), approved 2017: Batten Disease.

Naglazyme (galsulfase), approved 2005: Mucopolysaccharidosis Type VI.

Vimizim (elosulfase alfa), approved 2014: Mucopolysaccharidosis Type IVA.

Kuvan (sapropterin dihydrochloride), approved 2007: Phenylketonuria.

Still in development: ALE1 (Phase 1).

Source: the FDA's openFDA label database, matched to the rare diseases on Trial Friend; the list updates automatically and can include older products.

Yes, for 5 of its FDA-approved rare disease medicines that we track, each checked on BioMarin Pharmaceutical's own website.

Voxzogo: BioMarin RareConnections, 1-833-869-9646. Offers copay help with private insurance and insurance help. Checked October 24, 2026.

Palynziq: BioMarin RareConnections, 1-866-906-6100. Offers copay help with private insurance and insurance help. Checked October 24, 2026.

Brineura: BioMarin RareConnections, 1-866-906-6100. Offers copay help with private insurance and insurance help. Checked October 24, 2026.

Naglazyme: BioMarin RareConnections, 1-866-906-6100. Offers copay help with private insurance and insurance help. Checked November 11, 2026.

Vimizim: BioMarin RareConnections, 1-866-906-6100. Offers copay help with private insurance and insurance help. Checked November 11, 2026.

Medicare and Medicaid: drugmaker copay cards are limited to private insurance, so people with government coverage usually look to a free medicine program or a charity fund, both on the help paying page.

Eligibility is decided by each program, so call the number listed before a prescription is filled.