Evaluation of Safety and Efficiency of Metreleptin Treatment for Patients With Multiple Symmetric Lipomatosis (MSL)

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Lipomatosis, Multiple Symmetrical
• Intervention / Treatment: Drug: Metreleptin

Detailed Description

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
• Enrollment (Actual): 4
• Phase: Phase 2

Contacts and Locations

Study Locations

• United States
  • Michigan
    • Ann Arbor, Michigan, United States, 48109
      • University of Michigan

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 60 years (Child, Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Have the clinical diagnosis of MSL and being followed at University of Michigan (cohort to be studied in this proof-of-concept study is already available at Michigan).
• Willing and able to tolerate the study procedures.
• Willing and able to tolerate blood sampling.
• Having no condition that may impede successful data collection or interfere with testing parameters.
• <60 years of age.

• If female of childbearing potential:

  • Not breastfeeding.
  • Negative pregnancy test (human chorionic gonadotropin, beta subunit) at baseline.
• Can read, understand and sign approved informed consent form, communicate with study physician, and study team, and understand and comply with protocol requirements.

Exclusion Criteria:

• Presence of advanced liver disease (abnormal synthetic function, prothrombin time [PT], or albumin) in medical records
• Evidence of other etiologies of viral hepatitis in medical records
• Presence of active hematologic, bone marrow or other abnormalities that may increase risk of bleeding in medical records.
• Presence of HIV infection in medical records.
• Presence of End-stage renal disease (ESRD), active cancer, or >class 2 congestive heart failure based on medical history and physical examination.
• Active chronic infection (e.g., known chronic osteomyelitis or Tuberculosis [TB]). May have transient infections but must be free of active infection for two weeks prior to study visits.
• Unable to ambulate or tolerate trips to the University of Michigan Clinical Research Unit.
• Clinically relevant Coronary artery disease (CAD): history of stent or Coronary artery bypass graft surgery (CABG) with cardiologist confirmed angina.
• Presence of autoimmune disease.
• Hypersensitivity to metreleptin.
• General obesity not associated with congenital leptin deficiency.
• Any other condition that, in our opinion, may impede successful data collection.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Patients with MSL	Drug: Metreleptin; 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).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	Baseline, Week 24

Collaborators and Investigators

• Sponsor: University of Michigan
• Collaborators: Amryt Pharma
• Investigators: Principal Investigator: Elif Oral, University of Michigan

Study record dates

Study Major Dates

• Study Start (Actual): August 1, 2023
• Primary Completion (Actual): April 8, 2024
• Study Completion (Estimated): October 1, 2028

Study Registration Dates

• First Submitted: April 22, 2022
• First Submitted That Met QC Criteria: April 22, 2022
• First Posted (Actual): April 28, 2022

Study Record Updates

• Last Update Posted (Actual): June 12, 2025
• Last Update Submitted That Met QC Criteria: June 10, 2025
• Last Verified: June 1, 2025

More Information

Terms related to this study

• Keywords: Metreleptin
• Additional Relevant MeSH Terms: Neoplasms; Metabolic Diseases; Neoplasms by Histologic Type; Skin Diseases; Lipid Metabolism Disorders; Neoplasms, Connective and Soft Tissue; Neoplasms, Adipose Tissue; Lipoma; Lipomatosis; Lipomatosis, Multiple Symmetrical
• Other Study ID Numbers: HUM00206598

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: Yes