Our Research

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Ornithine Transcarbamylase (OTC) Deficiency

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Osteogenesis Imperfecta (OI)

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Wilson Disease (WD)

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Our PEL team is relentlessly focused on providing new hope and transforming lives for patients, their families, and caregivers in the rare and ultrarare disease community.

Our Patient Enrollment Liaison (PEL) team is here to help

If you are considering taking part in clinical or nonclinical research, you probably have questions. Our dedicated team of experienced research professionals, called PELs, are here to support you, your family, and caregivers by providing answers and guidance throughout the referral process.

Every study is unique, and not everyone who wishes to take part in a certain study may qualify. However, our PEL team may be able to assist to navigate depending on where you live. They may guide you (and/or your caregiver) in discovering whether a specific study may be right for you or your loved one.

Our team looks forward to helping you begin your research journey.

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Your Participation Matters

When you choose to participate in research, you should know that no effort is wasted, and every effort is appreciated. Some people wonder if a simple activity or even a one-time action might truly make an impact. The truth is that every action helps make a difference, and participation matters. This is especially true for rare diseases. Researchers count on you and others like you to help the development of treatment move forward.

Why Research Is So Important

People volunteer for clinical or nonclinical research for a variety of reasons. Some may want to learn more about their medical condition or gain early access to a specific treatment. Others may want to make a positive contribution to the rare disease community.

While some types of research might be simple, other types of research may be more involved. Without the individuals who volunteer to participate, the race to find a cure or improved treatment would be in limbo. Advancements are possible because of dedicated individuals and a community focused on positive change.

Types of Research

Research can be clinical or nonclinical and is also referred to as interventional or observational studies.

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Interventional (Clinical) study

Patients try a potential/investigational treatment, medical device, activity, or medical procedure. This type of study aims to evaluate whether a potential treatment will be safe and effective.

For example, a patient might take a new medication, and the effects are analyzed over time.

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Non-Interventional study

Potential treatments aren’t examined; rather, a behavior or action is observed. With these studies, researchers explore how patients perform certain behaviors without trying to change or influence them.

For example, a person could fill out an online survey, and this could provide valuable data that may help advance future care.

Update on Angelman Syndrome

Angelman Syndrome (AS) is a debilitating, rare, neurogenetic disorder that primarily affects the nervous system. Patients living with AS experience developmental delay, balance issues, motor impairment, anxiety, disturbed sleep, and debilitating seizures. Some individuals with AS are unable to walk and most do not speak.

The AS study is currently ongoing in the United States, Canada, and the United Kingdom.

Currently, no therapies are approved for AS, which affects an estimated
people in the world.

We Are Committed to Patients

We are committed to advancing innovative treatments, providing access to those in need, and supporting the larger rare disease community.

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We URGENTLY develop

treatments where no sufficient treatment options exist.

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We strive

for patients to have access to our therapies as soon as possible.

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We support

the rare disease community.

Research Support and Resources

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Find your community at Ultra-Rare Advocacy

The rare community is made up of millions of unique experiences. But shared experiences, common challenges, similar passions, and united voices tie everyone in it together. Meet members of the rare community, access educational materials, find support, and more.

Our Pipeline

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See what’s happening with our pipeline

Ultragenyx is dedicated to improving life for people with rare and ultra-rare diseases, and their family and caregivers, through the creation and discovery of much-needed therapies. Our advanced clinical development programs cover multiple rare disease therapeutic areas and drug modalities.

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