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

NCT05351164 | Active Not Recruiting Phase 2 Results FDA Drug

• 1 other identifier: HUM00206598
• Study Type: interventional
• Target: 4
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Lipomatosis, Multiple Symmetrical

Keywords

Metreleptin

Outcome Measures

Primary Outcomes (2)

• 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

Study Arms (1)

Patients with MSL

EXPERIMENTAL

Drug: Metreleptin

Interventions

Metreleptin DRUG

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).

Patients with MSL

Eligibility Criteria

• Age: Up to 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Michigan: lead
• Amryt Pharma: collaborator

Study Sites (1)

University of Michigan

Ann Arbor, Michigan, 48109, United States

Location

MeSH Terms

Conditions

Lipomatosis, Multiple Symmetrical

Interventions

metreleptin

Condition Hierarchy (Ancestors)

Lipomatosis; Skin Diseases; Skin and Connective Tissue Diseases; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Results Point of Contact

• Title: Elif Oral
• Organization: University of Michigan

eliforal@med.umich.edu

734-615-7271

Study Officials

• Elif Oral

  University of Michigan

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Internal Medicine

Study Record Dates

• First Submitted: April 22, 2022
• First Posted: April 28, 2022
• Study Start: August 1, 2023
• Primary Completion: April 8, 2024
• Study Completion (Estimated): October 1, 2028
• Last Updated: June 12, 2025
• Results First Posted: June 12, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)