Setmelanotide in a Single Patient With Partial Lipodystrophy

Rhythm Pharmaceuticals

Status and phase: Completed; Phase 2

Conditions: Hypertriglyceridemia; Obesity

Treatments: Drug: Setmelanotide

Study type: Interventional

Funder types: Industry

Identifiers

NCT03262610

RM-493-019

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 1 patient

Sex: Female

Ages: 15 to 15 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Signed written informed consent

2. Ability to comply with visits and procedures required by program.

3. 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%.

4. Female, under the age of 18 years

Exclusion criteria

1. 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.
2. History or close family history (parents or siblings) of skin cancer or melanoma, or patient history of ocular-cutaneous albinism.
3. 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.
4. Significant hypersensitivity to study drug.
5. Inability to comply with QD injection regimen.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1 participants in 1 patient group

Setmelanotide daily subcutaneous injection

Experimental group

Description:

Up to 18 weeks setmelanotide treatment.

Treatment:

Drug: Setmelanotide