You should consult with your treating doctor about clinical trial opportunities.
Interested in participating? Learn about a clinical study opportunity.
Evaluating an investigational drug called UX016 as a potential treatment.
Be between 18 and 55 years of age
Have a confirmed diagnosis of GNEM, based on certified genetic testing
Be able to walk at least 20 meters independently (you must be able to walk without someone’s help, but may use assistive devices and orthotics)
Today, there is no Food and Drug Administration (FDA)–approved treatment for GNE myopathy (GNEM). The UX016-CL210 Study is designed to help researchers learn whether an investigational drug, called UX016, is safe and effective for treating people who have a genetically confirmed diagnosis of GNEM.
UX016 is not currently approved by any regulatory authority for use in treating GNEM and is only available through approved clinical research studies such as this one.
After screening and for the first portion of the study, you will be randomly assigned to receive either:
After this portion is complete, all participants will continue (or switch from placebo to) UX016 for the remainder of the study.
(up to 28 days)
(up to about 14 months)
UX016 or Placebo
(about 11 months)
UX016
(about 4 weeks)
“Double-blind” means that neither you nor the study doctor knows what treatment is being given. If needed for medical reasons, however, this information can quickly be determined. The extension period will not be double-blind, meaning both you and the study doctor will know that you are receiving UX016.
To learn more about this study, please contact [email protected]
For more information, please visit clinicaltrials.gov
You will attend up to 19 clinic visits. At these visits, assessments and procedures will be done to check your health. This may include but is not limited to:
GNEM-related assessments
Neurological exams
Physical exams
Vital sign measurements
Questionnaires
Blood and urine sample collections
Muscle biopsies (certain subcohorts only)
Electrocardiograms (tests that measure heart activity)
Monitoring for adverse events (side effects)
To learn about current and future studies, you only need to fill out the form once.
*All fields are required.
By submitting this form, you confirm that a diagnosis of GNEM has been made by a medical professional.
If you would like to know more about your privacy and the data you submit and data we collect while you are on this website, please see below or visit our privacy policy.
Our Patient Enrollment Liaison (PEL) team will contact you by email or phone within one business day to discuss your study eligibility and answer questions.
If you choose to be contacted by email, be sure to check your spam folder for an email from [email protected], if it’s not in your regular inbox.
Email our PEL team about current and future medical research opportunities.
Patient portrayal.
GNE myopathy (GNEM) is caused by changes in the GNE gene which encodes for an enzyme known as glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase. The enzyme is responsible for the production of sialic acid (SA), a sugar required by all cells, including muscle, to produce energy. Individuals with GNEM have progressive muscle weakness which typically worsens over time, decreased grip strength and frequent loss of balance.1,2
If you are thinking about joining a study, our Patient Enrollment Liaison (PEL) team is here to help. Every member of our PEL team has a robust professional background and clinical expertise and experience to help answer your questions. Your PEL team member will assist in exploring Ultragenyx clinical and non-interventional clinical trials and related sites where you could be considered for enrollment. Your PEL is here to make the process as easy as possible.
To speak with a PEL about current and future medical research opportunities, please email our PEL team at [email protected].
When you voluntarily submit your personal data, Ultragenyx stores and processes this information in an electronic database consistent with our Privacy Policy. Ultragenyx will use this information to contact you to fulfill your request regarding Ultragenyx research opportunities.
Clinical and nonclinical studies provide invaluable information to treat, diagnose, or discover new breakthroughs in treating rare and ultra-rare diseases. By choosing to participate in research, you may help advance treatments, provide crucial insights, and ultimately improve the quality of life for others living with a rare or ultra-rare disease. You might also benefit from learning more about your condition, gain access to specific care, or achieve faster access to treatment. All efforts of participation, big and small, can make a difference.
Ultragenyx is leading the future of rare disease medicine. We leverage our experience, insight, and commitment to help move the rare disease community forward. Our primary goal is to provide medicines to those with limited options, and to help patients face rare disease head on with courage and confidence.
Ultragenyx is not responsible for the content or privacy policies of third-party websites outside of its control. Content from Ultragenyx Patient Advocacy (ultrarareadvocacy.com) is intended for a U.S. patient and caregiver audience. Content from the Ultragenyx corporate website (ultragenyx.com) is intended for investors and the general public within the U.S. The information provided on these Ultragenyx sites may not apply to your country. Please contact your physician to learn more about these topics. Thank you for visiting our Clinical Trial site. We hope your visit was informative and enjoyable.
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