Clinical trial NCT05351164: Evaluation of Safety and Efficiency of Metreleptin Treatment for Patients With Multiple Symmetric Lipomatosis (MSL)
Official title: Evaluation of Safety and Efficiency of Metreleptin Treatment for Patients With Multiple Symmetric Lipomatosis (MSL)
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: PHASE2
Conditions: Lipomatosis, Multiple Symmetrical
Keywords: Metreleptin
Lead sponsor: University of Michigan
Sponsor class: OTHER
Collaborators: name: Amryt Pharma
First posted: 2022-04-28
Enrollment: 4
Sex: ALL
Maximum age (years): 60
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.

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.

Primary outcomes:
measure: Change in Truncal Adiposity
timeFrame: Baseline, Week 24
measure: Change in Total Adiposity
timeFrame: Baseline, Week 24
Secondary outcomes:
Other outcomes:
Locations:
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
Study officials:
affiliation: University of Michigan
name: Elif Oral
role: PRINCIPAL_INVESTIGATOR
References: