First-in-human Study of UX016 in GNEM

Conditions

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

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).

Experimental: 1g UX016 -> Extension Period
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.
Experimental: 2g UX016 -> Extension Period
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.
Placebo Comparator: Placebo -> Extension Period
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.

Number of Participants with Treatment-Emergent Adverse Events (TEAEs) [ Time Frame: Up to Week 96 (Double Blind and Extension Periods) ]

Facility	City	State	ZIP	Site coordinators
Clinical Trial Site	Orange	California	92868	-
Rare Disease Research	Iselin	New Jersey	08830	-

By research site