Participants (homozygous MFN2 \[gene that provides instructions to produce the Mitofusin 2 protein\] R707W) will be treated with Metreleptin, and effects on body composition, metabolic parameters and safety will be assessed over a 6 month intervention period. Additional safety will be assessed for 1 more year (up to 1.5 years total) in which adverse event data will be collected.
In 2024, the IRB granted an amendment that allowed for continued data collection, including adverse events, up to 5 years per participant.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
4
Study drug for injection is supplied in a carton containing 30 vials for reconstitution. Each vial contains 11.3 mg of the study drug as a sterile, white, solid, lyophilized cake or powder to deliver 5 mg/mL of the study drug when reconstituted with 2.2 mL of water for injection (WFI).
University of Michigan
Ann Arbor, Michigan, United States
Change in Truncal Adiposity
A dual-energy X-ray absorptiometry (DEXA) scan was used to measure truncal adiposity at baseline and week 24. Truncal adiposity is the amount of fat a person has in the trunk area, and this outcome measure looked at the change in the fat in this area of the body in relation to the total fat in the participant's body. Results represent the change in the percentage of fat tissue from the trunk area to the total body.
Time frame: Baseline, Week 24
Change in Total Adiposity
A dual-energy X-ray absorptiometry (DEXA) scan was used to measure total adiposity at baseline and week 24. Total adiposity is the amount of fat participants had in the body compared to their total weight. Results represent the change in the percentage of fat tissue from the total body to the total weight.
Time frame: Baseline, Week 24
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