GNE MyopathyPhase 1/2NCT07511556
First-in-human Study of UX016 in GNEM
A Phase 1/2 study testing UX016 in people with GNE Myopathy, run by Ultragenyx Pharmaceutical Inc at 2 sites in United States.
Trial summary
The goal of this study is to assess the safety and dose of UX016 and its impact on muscle strength in adults with GNE Myopathy (GNEM). Read more about this study
- Who is it for?
- Ages 18 to 55 years
- Conditions the study is for
- GNE Myopathy
- What is being tested?
- UX016
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 24 participants
- Where
- 2 sitesUnited States
- Study dates
- Oct 2026to Dec 2028
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 55 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- A confirmed diagnosis of GNEM (also known as distal myopathy with rimmed vacuoles [DMRV], hereditary inclusion body myopathy [HIBM], inclusion body myopathy 2 [IBM2], and Nonaka myopathy in Japan) by Clinical Laboratory Improvement Amendments (CLIA)-certified genetic testing with identification of a disease-associated variant in the gene encoding the GNE/MNK enzyme. Genotyping will not be conducted in this protocol
- Ability to walk a minimum of 20 m independently during Screening. The use of assistive devices and orthotics is allowed.
- Has ≤ 80% of normal biceps strength (dominant side) assessed by hand-held dynamometry (HHD) associated with a clinical pattern of weakening in the upper extremity and ability to provide reproducible force in unilateral elbow flexors (dominant side) during HHD testing (unilateral between test variability of ≤ 15%) during Screening.
- Willing and able to comply with all study procedures including needle muscle biopsies of the quadriceps muscle.
- From informed consent to after the last dose of study drug, females of childbearing potential and fertile males must consent to use highly effective contraception. If female, agree not to become pregnant and willing to have additional pregnancy testing during the study. Females considered not of childbearing potential include those who have been in menopause for at least 2 years, have had tubal ligation at least 1 year prior to Screening, or who have had a total hysterectomy. If male, agree not to father a child or donate sperm.
- Provide informed consent after the nature of the study has been explained and prior to any research-related procedures.
Who cannot join
- Ingestion of N-acetyl-D-mannosamine (ManNAc), SA, or related metabolites, including 6-sialyllactose; intravenous immune globulin; supplements; or anything that can be metabolized to produce significant amounts of SA in the body for the prior 60 days through the end of the study.
- Any changes in diet or exercise routine in the prior 30 days. Subjects are strongly discouraged from making any changes to their diet and exercise routines following enrollment.
- Receiving concomitant oral medications that are substrates for CYP2B6, P-glycoprotein (P-gp) transporters, or breast cancer resistance protein (BCRP) transporters.
- Known hypersensitivity to SA or its excipients that, in the judgment of the Investigator, places the subject at increased risk for adverse effects.
- Any of the following laboratory abnormalities at Screening:
- Alanine aminotransferase (ALT), aspartate aminotransferase (AST), gamma-glutamyl transferase (GGT), or glutamate dehydrogenase (GLDH) > 3 × upper limit of normal (ULN)
Show all 12Show fewer
- Total bilirubin > 2 × ULN
- Estimated glomerular filtration rate (eGFR) < 60 mL/min/1.73 m2 based on cystatin C.
- Men with a Fridericia-corrected QT interval (QTcF) > 450 msec and women with a QTcF > 460 msec at Screening.
- Presence or history of any condition, laboratory abnormality, or infection that, in the Investigator's judgment, would interfere with participation, pose undue safety risk, or confound interpretation of study results.
- Pregnant or breastfeeding at Screening or planning to become pregnant (self or partner) at any time during the study.
- Use of any investigational product or investigational medical device within 30 days prior to Screening or requirement for any investigational agent prior to completion of all scheduled study assessments.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
Rare Disease Research
Iselin, New Jersey, 08830
- Recruiting
University of California, Irvine
Orange, California, 92868
About this study
Official title: A Phase 1/2, First-in-human, Double-blind, Placebo-controlled Study to Assess Dose, Safety, and Efficacy of UX016 (Sialic Acid-C16 Prodrug) in Adults With GNE Myopathy
The goal of this study is to assess the safety and dose of UX016 and its impact on muscle strength in adults with GNE Myopathy (GNEM).
- Conditions
- GNE Myopathy
- Being tested
- UX016, Placebo
- Keywords
- GNEM, Hereditary Inclusion Body Myopathy (HIBM), Distal Myopathy with Rimmed Vacuoles (DMRV), Inclusion Body Myopathy 2 (IBM2), Nonaka Myopathy
- Medical subject headings
- Distal myopathy, Nonaka type
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
UX016Drug
Tablets for oral use
PlaceboOther
Tablets for oral use. Tablets will match the UX016 tablets, but contain no active ingredients
| Study group | Role | What they receive |
|---|---|---|
| 1g UX016 -> Extension Period | Experimental | Participants will be randomized 3:1 to receive UX016 or placebo. Depending on sub-cohort assignment, participants may receive two single doses of UX016 (0.5g and 1g) or one single dose (1g) before starting daily dosing, or they may proceed directly to daily dosing at the assigned 1g dose level. After completing 48 weeks of daily dosing, participants will be eligible to enter the Extension Period, during which all participants will receive UX016. Receives: Drug: UX016 |
| 2g UX016 -> Extension Period | Experimental | Participants will be randomized 3:1 to receive UX016 or placebo. Depending on sub-cohort assignment, participants may receive a single dose of UX016 (2g) before starting daily dosing, or they may proceed directly to daily dosing at the assigned 2g dose level. After 48 weeks of daily dosing, participants will be eligible to enter the Extension Period, during which all participants will receive UX016. Receives: Drug: UX016 |
| Placebo -> Extension Period | Placebo comparator | Participants will be randomized 3:1 to receive UX016 or placebo. Depending on sub-cohort assignment, participants may receive one or more single doses of placebo before starting daily dosing or they may proceed directly to daily dosing of placebo at the assigned dose level. After 48 weeks of daily dosing of placebo, participants will be eligible to enter the Extension Period, during which all participants will receive UX016. Receives: Drug: UX016; Other: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants with Treatment-Emergent Adverse Events (TEAEs)
Measured: Up to Week 96 (Double Blind and Extension Periods)
Upper Extremity Composite (UEC) Score Change From Baseline
Measured: Baseline, 48 Weeks
Secondary outcomes (7)
Plasma Area Under the Curve (AUC) of UX016 and Free Sialic Acid (SA)
Measured: Baseline, 12 Weeks
Plasma Maximum Concentration (Cmax) of UX016 and SA
Measured: Baseline, 12 Weeks
Excretion in Urine of UX016 and SA
Measured: Baseline, 12 Weeks
Free, Total, and Calculated Bound Sialic Acid (SA) in Muscle (Quadriceps) Change From Baseline
Measured: Baseline, 12 Weeks
Lower Extremity Composite (LEC) Score Change From Baseline
Measured: Baseline, 48 Weeks
6-Minute Walk Test (6MWT) Change From Baseline
Measured: Baseline, 48 Weeks
GNEM Functional Activities Scale (GNEM-FAS) Change From Baseline
Measured: Baseline, 48 Weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Apr 2026
- Study startOct 2026 (estimated)
- Primary completionDec 2028 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for GNE MyopathyStudies of the same condition, open and under way.
- More trials run by Ultragenyx Pharmaceutical IncThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Sequential
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 24 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ultragenyx Pharmaceutical Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Ultragenyx Pharmaceutical Inc
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07511556
- Sponsor's protocol ID
- UX016-CL210
- Status last verified
- Oct 2026
- First submitted
- 30 Mar 2026
- Last updated
- 13 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 1/2, First-in-human, Double-blind, Placebo-controlled Study to Assess Dose, Safety, and Efficacy of UX016 (Sialic Acid-C16 Prodrug) in Adults With GNE Myopathy
- ClinicalTrials.gov ID
- NCT07511556
- Acronym / sponsor ID
- UX016-CL210
- Conditions
- GNE Myopathy
- Keywords
- GNEM, Hereditary Inclusion Body Myopathy (HIBM), Distal Myopathy with Rimmed Vacuoles (DMRV), Inclusion Body Myopathy 2 (IBM2), Nonaka Myopathy
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 24 participants (estimated)
- Lead sponsor
- Ultragenyx Pharmaceutical IncIndustry (pharma, biotech, devices)
- Study start
- Oct 2026 (estimated)
- Primary completion
- Dec 2028 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 6 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The goal of this study is to assess the safety and dose of UX016 and its impact on muscle strength in adults with GNE Myopathy (GNEM).
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Sequential
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 1g UX016 -> Extension Period | Experimental | Drug: UX016Participants will be randomized 3:1 to receive UX016 or placebo. Depending on sub-cohort assignment, participants may receive two single doses of UX016 (0.5g and 1g) or one single dose (1g) before starting daily dosing, or they may proceed directly to daily dosing at the assigned 1g dose level. After completing 48 weeks of daily dosing, participants will be eligible to enter the Extension Period, during which all participants will receive UX016. |
| 2g UX016 -> Extension Period | Experimental | Drug: UX016Participants will be randomized 3:1 to receive UX016 or placebo. Depending on sub-cohort assignment, participants may receive a single dose of UX016 (2g) before starting daily dosing, or they may proceed directly to daily dosing at the assigned 2g dose level. After 48 weeks of daily dosing, participants will be eligible to enter the Extension Period, during which all participants will receive UX016. |
| Placebo -> Extension Period | Placebo comparator | Drug: UX016, Other: PlaceboParticipants will be randomized 3:1 to receive UX016 or placebo. Depending on sub-cohort assignment, participants may receive one or more single doses of placebo before starting daily dosing or they may proceed directly to daily dosing of placebo at the assigned dose level. After 48 weeks of daily dosing of placebo, participants will be eligible to enter the Extension Period, during which all participants will receive UX016. |
Who may qualify
- Ages
- 18 to 55 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (6 listed)
- A confirmed diagnosis of GNEM (also known as distal myopathy with rimmed vacuoles [DMRV], hereditary inclusion body myopathy [HIBM], inclusion body myopathy 2 [IBM2], and Nonaka myopathy in Japan) by Clinical Laboratory Improvement Amendments (CLIA)-certified genetic testing with identification of a disease-associated variant in the gene encoding the GNE/MNK enzyme. Genotyping will not be conducted in this protocol
- Ability to walk a minimum of 20 m independently during Screening. The use of assistive devices and orthotics is allowed.
- Has ≤ 80% of normal biceps strength (dominant side) assessed by hand-held dynamometry (HHD) associated with a clinical pattern of weakening in the upper extremity and ability to provide reproducible force in unilateral elbow flexors (dominant side) during HHD testing (unilateral between test variability of ≤ 15%) during Screening.
- Willing and able to comply with all study procedures including needle muscle biopsies of the quadriceps muscle.
- From informed consent to after the last dose of study drug, females of childbearing potential and fertile males must consent to use highly effective contraception. If female, agree not to become pregnant and willing to have additional pregnancy testing during the study. Females considered not of childbearing potential include those who have been in menopause for at least 2 years, have had tubal ligation at least 1 year prior to Screening, or who have had a total hysterectomy. If male, agree not to father a child or donate sperm.
Key exclusion criteria (12 listed)
- Ingestion of N-acetyl-D-mannosamine (ManNAc), SA, or related metabolites, including 6-sialyllactose; intravenous immune globulin; supplements; or anything that can be metabolized to produce significant amounts of SA in the body for the prior 60 days through the end of the study.
- Any changes in diet or exercise routine in the prior 30 days. Subjects are strongly discouraged from making any changes to their diet and exercise routines following enrollment.
- Receiving concomitant oral medications that are substrates for CYP2B6, P-glycoprotein (P-gp) transporters, or breast cancer resistance protein (BCRP) transporters.
- Known hypersensitivity to SA or its excipients that, in the judgment of the Investigator, places the subject at increased risk for adverse effects.
- Any of the following laboratory abnormalities at Screening:
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| UX016Tablets for oral use | Drug | 1g UX016 -> Extension Period, 2g UX016 -> Extension Period, Placebo -> Extension Period |
| PlaceboTablets for oral use. Tablets will match the UX016 tablets, but contain no active ingredients | Other | Placebo -> Extension Period |
Primary outcome
Number of Participants with Treatment-Emergent Adverse Events (TEAEs)
Time frame: Up to Week 96 (Double Blind and Extension Periods)
Upper Extremity Composite (UEC) Score Change From Baseline
Time frame: Baseline, 48 Weeks
7 secondary outcomes
Plasma Area Under the Curve (AUC) of UX016 and Free Sialic Acid (SA)
Time frame: Baseline, 12 Weeks
Plasma Maximum Concentration (Cmax) of UX016 and SA
Time frame: Baseline, 12 Weeks
Excretion in Urine of UX016 and SA
Time frame: Baseline, 12 Weeks
Free, Total, and Calculated Bound Sialic Acid (SA) in Muscle (Quadriceps) Change From Baseline
Time frame: Baseline, 12 Weeks
Lower Extremity Composite (LEC) Score Change From Baseline
Time frame: Baseline, 48 Weeks
6-Minute Walk Test (6MWT) Change From Baseline
Time frame: Baseline, 48 Weeks
GNEM Functional Activities Scale (GNEM-FAS) Change From Baseline
Time frame: Baseline, 48 Weeks
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Oct 2026.
- Ultragenyx Transparency CommitmentLink provided by the sponsor.
- Individual participant dataSharing planned: No
Related trials for GNE Myopathy
Active, not recruitingPhase 2
Multi-Center Study of ManNAc for GNE Myopathy
GNE Myopathy
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Medical Director study director
Ultragenyx Pharmaceutical Inc
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing UX016 in people with GNE Myopathy, run by Ultragenyx Pharmaceutical Inc at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Patient Contact: Trial Recruitment (1-888-756-8657, TrialRecruitment@ultragenyx.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants with Treatment-Emergent Adverse Events (TEAEs) (time frame: Up to Week 96 (Double Blind and Extension Periods)). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Oct 2026.