BioMarin Pharmaceutical
BioMarin Pharmaceutical works on 16 rare diseases tracked on Trial Friend, including Achondroplasia, Alpha-1 Antitrypsin Deficiency, Batten Disease and 13 more, with 20 active clinical trials (8 recruiting) and 6 FDA-approved rare disease drugs.
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MPS I. Roctavian (valoctocogene roxaparvovec), a gene therapy approved in 2023 for severe hemophilia A, was voluntarily withdrawn from the market in February 2026 after BioMarin was unable to find a buyer for it; the company said the decision was unrelated to the therapy's efficacy or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, an investigational small molecule in Phase 3 development for focal segmental glomerulosclerosis (FSGS), a rare and progressive kidney disease.
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 the Dutch biotech 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 be a meaningful change in how the disease is managed. ALE1 now sits in BioMarin's Skeletal Conditions Business Unit alongside Voxzogo. Alesta spun out its other programs into a separate company before the deal closed, and no Alesta employees moved to BioMarin.
BioMarin Pharmaceutical Drug Pipeline
BioMarin Pharmaceutical has 20 active clinical trials across 5 development stages, with 8 currently recruiting participants. Clinical trials advance through phases: Phase 1 tests safety in a small group, Phase 2 evaluates effectiveness and side effects, Phase 3 confirms benefit in a larger population, and Phase 4 monitors long-term safety after FDA approval.
Note: This pipeline counts the active and recruiting trials listed on this page, from ClinicalTrials.gov. For companies that work outside rare disease, we list only trials for rare diseases we track, so the company's full pipeline may be larger.
BioMarin Pharmaceutical Clinical Trials (20)
Active and recruiting clinical trials sponsored by BioMarin Pharmaceutical, sourced live from ClinicalTrials.gov. Each trial card shows the study phase, current recruitment status, conditions under investigation, study locations, eligibility criteria, and a direct link to the full ClinicalTrials.gov record. You can also download a one-page PDF summary to share with your doctor.
Note: Recruitment statuses on ClinicalTrials.gov may not immediately reflect recent FDA decisions, sponsor announcements, or enrollment changes. Always confirm a trial's current status directly with the study coordinator.
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BioMarin Pharmaceutical FDA-Approved Drugs (6)
Medications developed or marketed by BioMarin Pharmaceutical that have received U.S. Food and Drug Administration approval. Drug data is sourced from the openFDA database and includes brand names, generic names, approval dates, and matched rare disease indications. Where a drug treats a condition covered by Trial Friend, the disease name links directly to that disease page.
| Drug Name | Brand Name | Rare Diseases | Approval Date |
|---|---|---|---|
| CERLIPONASE ALFA | Brineura | Apr 27, 2017 | |
| SAPROPTERIN DIHYDROCHLORIDE | Kuvan oral | Dec 13, 2007 | |
| GALSULFASE Hydrolytic Lysosomal Glycosaminoglycan-specific Enzyme [EPC] | NAGLAZYME intravenous | May 31, 2005 | |
| PEGVALIASE-PQPZ Phenylalanine Metabolizing Enzyme [EPC] | Palynziq subcutaneous | May 24, 2018 | |
| ELOSULFASE ALFA Hydrolytic Lysosomal Glycosaminoglycan-specific Enzyme [EPC] | VIMIZIM intravenous | Feb 14, 2014 |
BioMarin Pharmaceutical Trial Locations
BioMarin Pharmaceutical clinical trials are running at 251 sites in 14 countries. Click any country to drill down by state, city, and individual research facility. Proximity to a trial site is one of the most important factors in deciding whether to participate.
Rare Disease Focus Areas (16)
Diseases targeted by BioMarin Pharmaceutical's clinical trial and drug development programs
Achondroplasia is the most common form of short-limbed dwarfism, caused by a mutation in the FGFR3 gene that disrupts the conversion of cartilage to bone in the growth plates. This results in dispropo...
Alpha-1 antitrypsin deficiency is a genetic disorder affecting the lungs and liver, caused by insufficient production of the protective protein alpha-1 antitrypsin. Without adequate protection, neutro...
Batten disease is a rare inherited neurological disorder caused by mutations in genes affecting lysosomal function, leading to accumulation of lipofuscin (age pigment) in neurons. Progressive vision l...
Duchenne muscular dystrophy is an X-linked genetic disorder causing progressive muscle weakness and degeneration, beginning in early childhood. The defective dystrophin protein normally protects muscl...
Glycogen Storage Disease Type II (GSD II, also called Pompe Disease) is a lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA), which breaks down glycogen. This l...
Hemophilia A is an X-linked bleeding disorder caused by deficiency or dysfunction of clotting factor VIII. Severity depends on factor levels, ranging from mild to severe hemorrhage. Modern factor repl...
Patient Resources
Organizations and resources related to BioMarin Pharmaceutical's rare disease focus areas
Frequently Asked Questions About BioMarin Pharmaceutical
Common questions about BioMarin Pharmaceutical's rare disease programs, clinical trials, and treatments.