Setmelanotide in a Single Patient With Partial Lipodystrophy

Study Overview
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Brief Summary
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The objective of this single patient study is to assess the safety and efficacy of setmelanotide as a treatment of severe metabolic abnormalities resulting from LD, especially refractory hypertriglyceridemia leading to recurrent bouts of pancreatitis.

Detailed Description
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This is a single-patient study to assess the safety and efficacy of setmelanotide in a unique patient with partial LD and severe metabolic abnormalities, most notably refractory hypertriglyceridemia leading to recurrent pancreatitis despite ongoing plasmapheresis treatment.

Official Title
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Expanded-access for the Use of Setmelanotide in a Single Patient With Partial Lipodystrophy (LD) Associated With Leptin Deficiency and Multiple Autoimmune Diseases

Conditions
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Hypertriglyceridemia, Obesity

Intervention / Treatment
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* Drug: Setmelanotide


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Signed written informed consent Ability to comply with visits and procedures required by program. Has physician-confirmed partial lipodystrophy and the following characteristics: Has atypical lipodystrophy. Has presence of neutralizing antibody to metreleptin Patient has life threatening hypertriglyceridemia and has had >8 episodes of pancreatitis, requiring weekly plasmapheresis Has Type 1 diabetes mellitus with HbA1c > 10%. Female, under the age of 18 years Exclusion Criteria: Diagnosis of schizophrenia, bipolar disorder, personality disorder or other Diagnostic and Statistical Manual of Mental Disorders (DSM-III) disorders that the investigator believes will interfere significantly with study compliance. Neurocognitive disorders affecting ability to consent will not be disqualifying as long as an appropriate guardian able to give consent has been appointed. History or close family history (parents or siblings) of skin cancer or melanoma, or patient history of ocular-cutaneous albinism. Significant dermatologic findings relating to melanoma or pre-melanoma skin lesions, determined as part of a screening comprehensive skin evaluation performed by a qualified dermatologist. Significant hypersensitivity to study drug. Inability to comply with QD injection regimen.

Ages Eligible for Study
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Minimum Age: 15 Years
Maximum Age: 15 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Setmelanotide daily subcutaneous injection<br>Up to 18 weeks setmelanotide treatment. | Drug: Setmelanotide<br>* daily subcutaneous injection<br>* Other names: RM-493;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Fasting Triglycerides (TG) levels | The mean change from baseline in fasting triglycerides after setmelanotide treatment. | 12 to 20 weeks |