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
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
Treatments tested in this trial
- UX016
- Placebo
Treatment groups
24 Participants
are divided into 3 treatment groupsSponsors and collaborators
Source ClinicalTrials.gov