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

• Status: Not yet recruiting
• Trial end date: 2022-10-01
• Target enrollment: 0
• Participant gender: All

Summary

Patients (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.

• Phase: Phase 1
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: University of Michigan
• Collaborator: Amryt Pharma

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.