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NCT Number: NCT05351164

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

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Key information

Conditions

Lipomatosis, Multiple Symmetrical Lipid Metabolism Disorders Lipomatosis Metabolic Diseases Nutritional and Metabolic Diseases Skin Diseases Skin and Connective Tissue Diseases

Age range

Up to 60 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

University of Michigan

Ann Arbor, Michigan, 48109, United States

About this study

In 2024, the IRB granted an amendment that allowed for continued data collection, including adverse events, up to 5 years per participant.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

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).

Primary outcomes

  1. Change in Truncal Adiposity

    Time frame: Baseline, Week 24

    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.

  2. Change in Total Adiposity

    Time frame: Baseline, Week 24

    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.

Sponsors and collaborators

Lead sponsor

University of Michigan

Other

Collaborators

  • Amryt Pharma

Registry information

Important dates

Study start
2023
Primary completion
2024
Study completion
2028
First posted
Apr 28, 2022
Registry last updated
Jun 12, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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