Ultragenyx Pharmaceutical

Ultragenyx Pharmaceutical works on 18 rare diseases tracked on Trial Friend, including Amyotrophic Lateral Sclerosis, Angelman Syndrome, Barth Syndrome and 15 more, with 12 recruiting clinical trials and 2 FDA-approved rare disease drugs.

Ultragenyx Pharmaceutical is a biopharmaceutical company dedicated to treating rare and ultra-rare genetic diseases. The company has 6 FDA-approved therapies: Crysvita (burosumab) for X-linked hypophosphatemia, Mepsevii (vestronidase alfa) for MPS VII, Dojolvi (triheptanoin) for long-chain fatty acid oxidation disorders, Evkeeza (evinacumab), licensed from Regeneron for ex-US commercialization, for homozygous familial hypercholesterolemia, Genglycos (pariglasgene brecaparvovec-opnr), which received FDA accelerated approval in August 2026 for glycogen storage disease type Ia, and Fayuvi (rebisufligene etisparvovec-hopf), formerly UX111, which received full FDA approval on September 17, 2026 as the first-ever treatment for Sanfilippo syndrome type A (MPS IIIA). Genglycos and Fayuvi are the company's first 2 gene therapies to reach the market. Ultragenyx maintains one of the largest gene therapy pipelines in rare disease, with advanced programs in Angelman syndrome, osteogenesis imperfecta, Wilson disease, and urea cycle disorders.

Type
Rare Disease Specialist
Ticker
RARE
Headquarters
Novato, United States
Founded
2010
12
Active Rare Disease Trials
2
Approved Rare Disease Drugs
18
Rare Diseases in Portfolio
16
Years Active

Ultragenyx Pharmaceutical Drug Pipeline

Ultragenyx Pharmaceutical has 12 active clinical trials across 3 development stages, with 12 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 includes all of Ultragenyx Pharmaceutical's active interventional trials, not only those targeting rare diseases. We show the full pipeline because a company's broader research activity, therapeutic expertise, and development infrastructure directly shape its ability to advance rare disease programs. A strong overall pipeline often signals deeper clinical operations, faster enrollment capabilities, and greater commitment to bringing new treatments to patients.

Understand Ultragenyx Pharmaceutical's pipeline
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2
Phase 22 trials
7
Phase 37 trials
MPS IIIA+3 more
Recruiting
Recruiting
3
Other3 trials
Recruiting
Ornithine Transcarbamylase (OTC) Deficiency
Recruiting

Ultragenyx Pharmaceutical Clinical Trials (12)

Active and recruiting clinical trials sponsored by Ultragenyx 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.

Ask about Ultragenyx Pharmaceutical's trials
Type your own question with a little about your situation, and get an answer with sources.
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ACTIVE NOT RECRUITINGPHASE3Recently updatedNCT06636071

Setrusumab in Pediatric Japanese Subjects With Osteogenesis Imperfecta

Intervention: setrusumab

The primary objective of the study is to evaluate the effect of setrusumab on reduction in fracture rate, including morphometric vertebral fractures.

Ages 2 Years - 6 Years3 locations
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ACTIVE NOT RECRUITINGPHASE1, PHASE2Recently updatedNCT04884815

A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease

Intervention: UX701, Standard of Care (SOC)

The primary objectives of this study are to evaluate the safety of single IV doses of UX701 in patients with Wilson disease, to select the UX701 dose with the best benefit/risk profile based on the totality of safety and efficacy data and to evaluate the effect of UX701 on copper regulation.

Ages 18 Years+16 locations
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RECRUITINGPHASE2, PHASE3Recently updatedNCT02716246

Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH

Intervention: UX111, Prophylactic Immunomodulatory (IM) Therapy, Optimized Prophylactic IM Therapy, Adjuvant IM Therapy

The main objective of this study is to evaluate the efficacy and safety of UX111 for the treatment of MPS IIIA.

Ages not specified5 locations
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ACTIVE NOT RECRUITINGPHASE3Recently updatedNCT06415344

Long-term Extension of GTX-102 in Angelman Syndrome

Intervention: GTX-102

The primary objective of the study is to evaluate the long-term safety profile of GTX-102 in participants with Angelman Syndrome (AS)

Ages not specified23 locations
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ACTIVE NOT RECRUITINGPHASE3Recently updatedNCT05345171

Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency

Intervention: DTX301, Placebo, Oral Corticosteroids, Placebo for oral corticosteroids, Sodium Acetate

The primary objective is to evaluate the efficacy of DTX301 on the improvement of ornithine transcarbamylase (OTC) function by maintaining safe plasma ammonia levels.

Ages 12 Years+16 locations
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ACTIVE NOT RECRUITINGPHASE2Recently updatedNCT07157254

A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)

Intervention: No intervention, GTX-102

The main goal of the study is to evaluate the safety and efficacy of GTX-102 in participants with Angelman syndrome.

Ages 1 Year - 64 Years21 locations
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ACTIVE NOT RECRUITINGRecently updatedNCT03651505

X-linked Hypophosphatemia Disease Monitoring Program

Intervention: No intervention

X-linked HypophosphatemiaHypophosphatemic Rickets

The objectives of this observational study are to characterize XLH disease presentation and progression and to assess long-term effectiveness and safety of burosumab.

Ages not specified38 locations
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Ultragenyx Pharmaceutical FDA-Approved Drugs (2)

Medications developed or marketed by Ultragenyx 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 NameBrand NameRare DiseasesApproval Date
TRIHEPTANOIN
Medium-chain Triglyceride [EPC]
DOJOLVI
oral
Jun 30, 2020
VESTRONIDASE ALFA
Lysosomal beta Glucuronidase [EPC]
MEPSEVII
intravenous
—Nov 15, 2017

Ultragenyx Pharmaceutical Trial Locations

Ultragenyx Pharmaceutical clinical trials are running at 236 sites in 18 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.

United States
110▼
Canada
19▼
Italy
16▼
Spain
12▼
France
10▼
United Kingdom
9▼
Germany
9▼
Japan
8▼
Brazil
8▼
Portugal
7▼
Argentina
6▼
Australia
5▼

Rare Disease Focus Areas (18)

Diseases targeted by Ultragenyx Pharmaceutical's clinical trial and drug development programs

Amyotrophic Lateral SclerosisNeurological & Neuromuscular

Amyotrophic lateral sclerosis is a progressive neurodegenerative disease destroying motor neurons in the brain and spinal cord. This causes progressive weakness and paralysis of voluntary muscles whil...

Prevalence: About 5,000 new cases per year in the U.S.; approximately 16,000 Americans living with ALS at any given time
Angelman SyndromeNeurological & Neuromuscular

Angelman Syndrome is a rare neurological disorder caused by loss of function of the UBE3A gene on the maternal chromosome 15. People with this condition typically develop normal until 6-12 months of a...

Prevalence: Approximately 1 in 12,000 to 20,000 people
Barth SyndromeCardiovascular

Barth syndrome is an ultra-rare X-linked genetic disorder caused by mutations in the TAFAZZIN gene, which produces an enzyme essential for remodeling cardiolipin, a phospholipid that mitochondria need...

Prevalence: Estimated at 1 in 300,000 to 1 in 400,000 live births in the United States. Stealth BioTherapeutics estimates approximately 150 individuals are currently living with Barth syndrome in the U.S. and fewer than 300 affected individuals have been identified worldwide, making it one of the rarest diseases with an FDA-approved targeted therapy.
Glycogen Storage Disease Type IIMetabolic & Lysosomal

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...

Prevalence: Approximately 1 per 14,000 to 1 per 40,000 live births globally; infantile form is most common
Hemophilia BBlood & Immune

Hemophilia B is an X-linked bleeding disorder caused by deficiency or dysfunction of clotting factor IX. Clinically indistinguishable from Hemophilia A, the key difference is factor type. Modern facto...

Prevalence: 1 in 25,000 to 33,000 males; very rare in females
Homozygous Familial HypercholesterolemiaCardiovascular

Homozygous Familial Hypercholesterolemia is a severe genetic disorder causing extremely high cholesterol levels from birth, leading to early heart disease and cholesterol deposits in tendons and aroun...

Prevalence: Approximately 1 in 250,000 to 1 in 360,000 people globally

Patient Resources

Organizations and resources related to Ultragenyx Pharmaceutical's rare disease focus areas

Frequently Asked Questions About Ultragenyx Pharmaceutical

Common questions about Ultragenyx Pharmaceutical's rare disease programs, clinical trials, and treatments.