Study of Growth Hormone Inhibition Using Pegvisomant in Severe Insulin Resistance

This is an interventional treatment trial for Insulin Receptor Mutation focused on measuring Pegvisomant, Severe Insulin Resistance, Growth Hormone Inhibition, LIPOLYSIS Read More

• INCLUSION CRITERIA

To be eligible to participate in this study, an individual must meet all the following criteria:

• Either

  • Known pathogenic variant in the insulin receptor gene, either dominant negative or recessive, OR
  • Clinical diagnosis of partial lipodystrophy based on reduction in adipose tissue outside the normal range in selected adipose depots (including, at a minimum, the gluteofemoral depot) with preservation of adipose tissue in other depots.
• Male or female, aged 18-65 years.
• Completed linear growth and puberty.

EXCLUSION CRITERIA

An individual who meets any of the following criteria will be excluded from participation in this study:

• Use of niacin or other drugs that directly affect lipolysis within 8 weeks prior to enrollment.
• Patients taking anticoagulants (blood thinning medications).
• Use of non-steroidal anti-inflammatory medications (e.g., aspirin, ibuprofen) 2 weeks prior to the biopsy date (in patients who choose to undergo biopsy).
• Changes in medications for diabetes or dyslipidemia within 2 weeks prior to enrollment.
• In subjects with partial lipodystrophy only, use of insulin within 2 weeks prior to enrollment.
• Pregnancy or lactation.
• For females of reproductive potential: inability or unwillingness to use contraception during study participation and for an additional 1 month after the end of pegvisomant administration.
• For males of reproductive potential: inability or unwillingness to use condoms or other methods to ensure effective contraception with partner during the study and for an additional 1 month after the end of pegvisomant administration.
• Known allergic reactions pegvisomant or any of its components.

• Clinically significant liver disease, evidenced by any of the following:

  • ALT or AST >3 times the upper limit of normal at screening.
  • Current known liver disease other than steatohepatitis (e.g., autoimmune or viral hepatitis).
  • History of cirrhosis
• Triglycerides >1500 mg/dL (non-fasting) or >1000 mg/dL (fasting) at screening.
• Hemoglobin A1c >10% at screening.
• Any other medical condition or medication that, in the judgement of the investigator, will increase risk to the subject or impede the measurement of study outcomes.
• Inability of subject to understand or the unwillingness to sign a written informed consent document.