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

NCT ID: NCT05351164

Last Updated: 2025-06-12

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Clinical Phase: PHASE2
• Total Enrollment: 4 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2023-08-01
• Study Completion Date: 2028-10-31

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.

Detailed Description

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

Conditions

Lipomatosis, Multiple Symmetrical

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Patients with MSL

Group Type: EXPERIMENTAL

Metreleptin

Intervention Type: 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).

Interventions

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).

Intervention Type: DRUG

Eligibility Criteria

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.

• Maximum Eligible Age: 60 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Amryt Pharma

INDUSTRY

Sponsor Role: collaborator

University of Michigan

OTHER

Sponsor Role: lead

Responsible Party

Elif Oral

Professor of Internal Medicine

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Elif Oral

Role: PRINCIPAL_INVESTIGATOR

University of Michigan

Locations

University of Michigan

Ann Arbor, Michigan, United States

Countries

United States

Provided Documents

Document Type: Study Protocol

View Document

Other Identifiers

HUM00206598

Identifier Type: -

Identifier Source: org_study_id