First-in-human Study of UX016 in GNEM

NCT07511556 | Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: UX016-CL210
• Study Type: interventional
• Target: 24
• Locations: 1 country
• Sites: 2

Brief 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).

Conditions

GNE Myopathy

Keywords

GNEM; Hereditary Inclusion Body Myopathy (HIBM); Distal Myopathy with Rimmed Vacuoles (DMRV); Inclusion Body Myopathy 2 (IBM2); Nonaka Myopathy

Outcome Measures

Primary Outcomes (2)

• Number of Participants with Treatment-Emergent Adverse Events (TEAEs)

  Up to Week 96 (Double Blind and Extension Periods)

• Upper Extremity Composite (UEC) Score Change From Baseline

  Baseline, 48 Weeks

Secondary Outcomes (7)

• Plasma Area Under the Curve (AUC) of UX016 and Free Sialic Acid (SA)

  Baseline, 12 Weeks

• Plasma Maximum Concentration (Cmax) of UX016 and SA

  Baseline, 12 Weeks

• Excretion in Urine of UX016 and SA

  Baseline, 12 Weeks

• Free, Total, and Calculated Bound Sialic Acid (SA) in Muscle (Quadriceps) Change From Baseline

  Baseline, 12 Weeks

• Lower Extremity Composite (LEC) Score Change From Baseline

  Baseline, 48 Weeks

Study Arms (3)

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.

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.

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.

Drug: UX016; Other: Placebo

Interventions

UX016 DRUG

Tablets for oral use

1g UX016 -> Extension Period; 2g UX016 -> Extension Period; Placebo -> Extension Period

Placebo OTHER

Tablets for oral use. Tablets will match the UX016 tablets, but contain no active ingredients

Placebo -> Extension Period

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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)
• 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.

Sponsors & Collaborators

• Ultragenyx Pharmaceutical Inc: lead

Study Sites (2)

Clinical Trial Site

Orange, California, 92868, United States

NOT YET RECRUITING

Rare Disease Research

Iselin, New Jersey, 08830, United States

RECRUITING

Related Links

• Ultragenyx Transparency Commitment

MeSH Terms

Conditions

Distal myopathy, Nonaka type

Study Officials

• Medical Director

  Ultragenyx Pharmaceutical Inc

  STUDY DIRECTOR

Central Study Contacts

Patient Contact: Trial Recruitment

CONTACT

1-888-756-8657; TrialRecruitment@ultragenyx.com

HCP Contact: Medical Information

CONTACT

1-888-756-8657; medinfo@ultragenyx.com

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 30, 2026
• First Posted: April 6, 2026
• Study Start: October 1, 2026
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2028
• Last Updated: September 3, 2026

Record last verified: 2026-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)