Rare disease drugmaker · based in Novato, United States · founded 2010 · ticker RARE · ultragenyx.com
Ultragenyx Pharmaceutical works on 7 rare diseases we track, including Glycogen Storage Disease Type Ia, Homozygous Familial Hypercholesterolemia and 5 more. It has 11 active clinical trials, and 4 are looking for volunteers now. It also has 4 FDA-approved rare disease drugs.
Ultragenyx Pharmaceutical is a biopharmaceutical company dedicated to treating rare and ultra-rare genetic diseases.
Ultragenyx Pharmaceutical pipeline
Each row lists the diseases Ultragenyx Pharmaceutical is studying at that stage, from the ones closest to approval down to the earliest work.
These are Ultragenyx Pharmaceutical trials for the rare diseases we track, from ClinicalTrials.gov. Statuses there can lag behind company news, so confirm with the study team before you plan around one.
4 trials looking for volunteers now
Looking for volunteersRecently updatedNCT06636383
Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring Program
The main objective of this observational study is to evaluate the long-term safety and effectiveness of DTX401 for at least 10 years after DTX401 administration.
Assessing the Impact of Intensification of Lipid Lowering Therapy With Guidelines-based Evinacumab Administration on Coronary Plaque Volumes Measured by Coronary Computed Tomography Angiography (CCTA) in Patients With Homozygous Familial Hypercholesterolemia (HoFH)
This observational, multicenter, retrospective and prospective study aims to evaluate the impact of intensified lipid-lowering therapy including Evinacumab on coronary atherosclerotic plaque burden in patients with Homozygous Familial Hypercholesterolemia (HoFH).
HoFH is a rare genetic disorder characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C) levels from early life and a markedly increased risk of premature atherosclerotic cardiovascular disease. Despite combination lipid-lowering therapy, many patients do not achieve recommended LDL-C targets and remain at high cardiovascular risk.
Evinacumab, a monoclonal antibody targeting angiopoietin-like protein 3 (ANGPTL3), has demonstrated significant LDL-C reduction in clinical trials. However, real-world evidence on its impact on coronary plaque progression is limited.
The study will compare HoFH patients receiving intensified lipid-lowering therapy including Evinacumab with patients receiving conventional lipid-lowering therapy without Evinacumab. Coronary plaque burden and phenotype will be assessed using coronary computed tomography angiography (CCTA) performed as part of routine clinical practice.
Approximately 52 patients will be enrolled across European centers. The primary objective is to evaluate changes in non-calcified coronary plaque volume between baseline and 18-24 months' follow-up. Secondary objectives include evaluation of total plaque burden, high-risk plaque characteristics, and LDL-C reduction. Exploratory analyses will assess patient-reported outcomes, pericoronary adipose tissue characteristics, and supravalvular atherosclerosis.
All data are collected from routine clinical care. No additional procedures are mandated by the protocol. This study aims to generate real-world imaging evidence on the effect of intensified lipid-lowering therapy including Evinacumab on coronary atherosclerosis in HoFH.
This is a medical research study to test a medication in patients with a disease called Pyruvate Dehydrogenase Complex (PDC) Deficiency. The medication is triheptanoin, which is currently FDA approved for the treatment of Long-Chain Fatty Acid Oxidation Disorders. Previous research suggests that triheptanoin may also be effective in the treatment PDC Deficiency. This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with PDC Deficiency.
The primary objective of the study is to evaluate the effect of setrusumab vs intravenousbisphosphonates (IV-BP) on reduction in fracture rate, including morphometric vertebral fractures in pediatric participants.
The primary objectives of the study are to identify a setrusumab dosing strategy in participants with OI and to evaluate the effect of setrusumab vs placebo on reduction in fracture rate.
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.
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The company's portfolio includes 6 approved therapies: Crysvita (burosumab) for X-linkedhypophosphatemia, Mepsevii (vestronidase alfa) for MPS VII, Dojolvi (triheptanoin) for long-chain fatty acid oxidation disorders, Evkeeza (evinacumab), which Regeneron markets in the US and Ultragenyx sells outside the US under license, 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. Its pipeline includes DTX301 gene therapy for ornithine transcarbamylase (OTC) deficiency, a urea cycle disorder, which met the first of its 2 main Phase 3 goals in March 2026.
In 2 other programs the Phase 3 trials missed their main goals, setrusumab for osteogenesis imperfecta in December 2025 and apazunersen (GTX-102) for Angelman syndrome on September 2, 2026.
Ultragenyx said on November 3, 2026 that it is winding down all GTX-102 studies, that it is talking with regulators about whether setrusumab has a path forward, and that it is ending UX701, its gene therapy for Wilson disease, because the dose-finding stage did not meet its goals.
Where Ultragenyx Pharmaceutical trials take place
The trials above run at 183 study sites in 18 countries. Tap a country to see its states, cities and hospitals.
United States
91▼
Italy
15▼
Canada
13▼
Brazil
7▼
Japan
7▼
Spain
7▼
Netherlands
6▼
France
6▼
Germany
5▼
Portugal
5▼
Argentina
5▼
United Kingdom
4▼
Rare diseases Ultragenyx Pharmaceutical works on
Each disease page lists every open trial, not only Ultragenyx Pharmaceutical's, plus approved treatments.
Glycogen storage disease type Ia (GSD Ia, von Gierke disease) is an inherited condition in which the liver cannot release sugar into the blood between meals, so blood sugar drops dangerously low...
How common: About 1 in 100,000 births for glycogen storage disease type I overall, with type Ia making up about 80% (NORD; MedlinePlus Genetics); about 1 in 20,000 among people of Ashkenazi Jewish descent
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...
How common: Approximately 1 in 250,000 to 1 in 360,000 people globally
Sanfilippo syndrome, formally mucopolysaccharidosis type III (MPS III), is a lysosomal storage disorder in which the body cannot break down a sugar chain called heparan sulfate.
How common: Approximately 1 per 70,000 to 1 per 100,000 live births; highest prevalence in certain populations including Australia and Scandinavia
Osteogenesis imperfecta is a genetic disorder affecting type I collagen synthesis or structure, causing bones to break easily with little or no apparent trauma.
Pyruvate dehydrogenase complex deficiency (PDCD) is a rare genetic mitochondrial disorder in which cells cannot fully turn carbohydrates into energy, causing lactic acid buildup and damage that...
How common: The exact number is unknown (MedlinePlus Genetics); Saol Therapeutics, which is developing a treatment, said in December 2024 that an estimated 300 to 500 patients are treated in US expert centers and that overall prevalence may be as high as 2,000
Urea Cycle Disorders (UCDs) are a group of genetic conditions affecting the enzymes that convert toxic ammonia to urea for excretion.
How common: About 1 in 35,000 births in the United States, based on newborn screening and registry data (Summar et al., 2013); Ornithine Transcarbamylase (OTC) deficiency is most common form
X-LinkedHypophosphatemia is a rare genetic bone disorder where the body cannot properly regulate phosphate levels, leading to rickets, bone pain, and skeletal deformities.
How common: About 1 in 20,000 to 25,000 newborns, according to MedlinePlus Genetics
Where to get support
Patient groups can explain a diagnosis, point you to specialists and tell you about trials before they open. Ultragenyx Pharmaceutical's own site is ultragenyx.com, and our help paying for treatment page lists drugmaker programs and charity funds.
1 shared disease, including Homozygous Familial Hypercholesterolemia
Questions about Ultragenyx Pharmaceutical
Ultragenyx Pharmaceutical is a biopharmaceutical company dedicated to treating rare and ultra-rare genetic diseases. The company's portfolio includes 6 approved therapies: Crysvita (burosumab) for X-linkedhypophosphatemia, Mepsevii (vestronidase alfa) for MPS VII, Dojolvi (triheptanoin) for long-chain fatty acid oxidation disorders, Evkeeza (evinacumab), which Regeneron markets in the US and Ultragenyx sells outside the US under license, 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. Its pipeline includes DTX301 gene therapy for ornithine transcarbamylase (OTC) deficiency, a urea cycle disorder, which met the first of its 2 main Phase 3 goals in March 2026. In 2 other programs the Phase 3 trials missed their main goals, setrusumab for osteogenesis imperfecta in December 2025 and apazunersen (GTX-102) for Angelman syndrome on September 2, 2026. Ultragenyx said on November 3, 2026 that it is winding down all GTX-102 studies, that it is talking with regulators about whether setrusumab has a path forward, and that it is ending UX701, its gene therapy for Wilson disease, because the dose-finding stage did not meet its goals.
Ultragenyx Pharmaceutical has active programs across 7 rare diseases: Glycogen Storage Disease Type Ia, Homozygous Familial Hypercholesterolemia, Sanfilippo Syndrome, Osteogenesis Imperfecta, Pyruvate Dehydrogenase Complex Deficiency, Urea Cycle Disorders, X-LinkedHypophosphatemia. Each disease page on Trial Friend shows the latest recruiting trials, FDA-approved treatments, and patient resources.
Yes. Ultragenyx Pharmaceutical is a rare disease specialist headquartered in Novato, United States, founded in 2010. The company focuses primarily on developing treatments for rare and orphan diseases, with programs targeting Glycogen Storage Disease Type Ia, Homozygous Familial Hypercholesterolemia, Sanfilippo Syndrome among others.
The clinical trials section on this page shows active and recruiting rare disease trials sponsored by Ultragenyx Pharmaceutical, pulled live from ClinicalTrials.gov. Each trial card includes the study phase, recruitment status, conditions being studied, number of trial sites, and a direct link to the full study record. You can also explore individual disease pages to see trials from all sponsors for a specific condition.
To explore enrollment, find a recruiting trial in the clinical trials list on this page and click "View full study" to see the full ClinicalTrials.gov record, which includes eligibility criteria, study locations, and contact information for each trial site. Your doctor can also help determine if a specific trial is appropriate for your condition. Not all trials are open at every location, so check the site list for one near you.
Ultragenyx Pharmaceutical has 2 FDA-approved drugs with a rare disease use that we track, as of November 2026.
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 2 of its FDA-approved rare disease medicines that we track, each checked on Ultragenyx Pharmaceutical's own website.
Genglycos: UltraCare Patient Services for Gene Therapy, 1-888-756-8657. Offers copay help with private insurance and insurance help. Checked October 12, 2026.
Fayuvi: UltraCare (Ultragenyx), 1-888-756-8657. Offers copay help with private insurance, travel help and insurance help. Checked September 24, 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.
Ultragenyx Pharmaceutical was founded in 2010 and is headquartered in Novato, United States. The company has been active for 16 years. It trades publicly under the ticker symbol RARE. As a rare disease specialist, the company dedicates its resources to developing therapies for patients with rare and orphan conditions.