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First-in-human Study of UX016 in GNEM

ConditionGNE Myopathy
Trial statusNot yet recruiting
Trial phasePhase 1, Phase 2
Trial typeInterventional
Biological sexAll
Age18-55
SponsorUltragenyx Pharmaceutical Inc

About this trial

The main goal of this study is to evaluate the safety of UX016 and to evaluate the impact of UX016 on muscle strength in adults with GNE Myopathy (GNEM).

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

A confirmed diagnosis of GNEM (also known as hereditary inclusion body myopathy [HIBM], distal myopathy with rimmed vacuoles [DMRV], 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.

Disqualifiers

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.

Trial design

Design model

Sequential

Treatments tested in this trial

  • UX016

    Drug

    Tablets for oral use

  • Placebo

    Other intervention

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

Treatment groups

24 Participants
are divided into 3 treatment groups
Group A: Lower Dose UX016 -> Extension PeriodExperimental treatment 1 intervention
Group B: Higher Dose UX016 -> Extension PeriodExperimental treatment 1 intervention
Group C: Placebo -> Extension PeriodPlacebo comparator 2 interventions

Trial outcomes

Primary outcomes

1

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

Time frame
Up to Week 104
2

Upper Extremity Composite (UEC) Score Change From Baseline

Time frame
Baseline, 48 Weeks

Secondary outcomes

1

Free and Total Sialic Acid (SA) in Muscle (Quadriceps) Change From Baseline

Time frame
Baseline, 12 Weeks
2

Lower Extremity Composite (LEC) Score Change From Baseline

Time frame
Baseline, 48 Weeks
3

6-Minute Walk Test (6MWT) Change From Baseline

Time frame
Baseline, 48 Weeks
4

GNEM Functional Activities Scale (GNEM-FAS) Change From Baseline

Time frame
Baseline, 48 Weeks

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Ultragenyx Pharmaceutical Inc

Lead sponsor

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: