Lipomatosis, Multiple SymmetricalPhase 2NCT05351164
Evaluation of Safety and Efficiency of Metreleptin Treatment for Patients With Multiple Symmetric Lipomatosis (MSL)
A Phase 2 study testing Metreleptin in people with Lipomatosis, Multiple Symmetrical, run by University of Michigan at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 60 years
- Conditions the study is for
- Lipomatosis, Multiple Symmetrical
- What is being tested?
- Metreleptin
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 4 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Aug 2023to Oct 2028
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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:
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- 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.
Who cannot join
- 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.
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- 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.
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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
- Being tested
- Metreleptin
- Keywords
- Metreleptin
- Medical subject headings
- Lipomatosis, Multiple Symmetrical
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MetreleptinDrug
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).
| Study group | Role | What they receive |
|---|---|---|
| Patients with MSL | Experimental | Not described Receives: Drug: Metreleptin |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: Baseline, Week 24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Apr 2022
- Study start1 Aug 2023
- Primary completion8 Apr 2024
- Study completionOct 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Lipomatosis, Multiple SymmetricalStudies of the same condition, open and under way.
- More trials run by University of MichiganThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Michigan
- Sponsor type
- University, hospital or other
- Collaborators
- Amryt Pharma
- Responsible party
- Principal investigator, Elif Oral, University of Michigan
- Investigators
- Elif Oral, Principal investigator, University of Michigan
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05351164
- Sponsor's protocol ID
- HUM00206598
- Status last verified
- Jun 2025
- First submitted
- 22 Apr 2022
- Last updated
- 12 Jun 2025
- Results posted
- Yes, on ClinicalTrials.gov
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Safety and Efficiency of Metreleptin Treatment for Patients With Multiple Symmetric Lipomatosis (MSL)
- ClinicalTrials.gov ID
- NCT05351164
- Acronym / sponsor ID
- HUM00206598
- Conditions
- Lipomatosis, Multiple Symmetrical
- Keywords
- Metreleptin
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 4 participants (actual)
- Lead sponsor
- University of MichiganUniversity, hospital or other
- Collaborators
- Amryt Pharma
- Study start
- 1 Aug 2023 (actual)
- Primary completion
- 8 Apr 2024 (actual)
- Study completion
- Oct 2028 (estimated)
- First posted
- 28 Apr 2022 (actual)
- Results
- Posted 12 Jun 2025
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with MSL | Experimental | Drug: Metreleptin |
Who may qualify
- Ages
- Up to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (9 listed)
- 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.
Key exclusion criteria (12 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MetreleptinStudy 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). | Drug | Patients with MSL |
Primary outcome
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.
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.
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Jun 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Elif Oral principal investigator
University of Michigan
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Metreleptin in people with Lipomatosis, Multiple Symmetrical, run by University of Michigan at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 12 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 12 Jun 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Truncal Adiposity (time frame: Baseline, Week 24). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Jun 2025.