METRE‑PL Metreleptin in Partial Lipodystrophy

About the Condition

Familial partial lipodystrophy

Lipodystrophy is a rare group of disorders characterized by complete or partial loss of subcutaneous adipose tissue (the fatty tissue layer that lies directly under the skin). Lipodystrophy can either be inherited or acquired.

Familial partial lipodystrophy (FPLD) is a genetic form of partial lipodystrophy (PL) that is caused by mutations of specific genes. Individuals with FPLD often have reduced subcutaneous fat in the arms and legs, and their head and torso regions may or may not have loss of fat. Individuals with FPLD may also have excess subcutaneous fat in other areas of the body, especially the neck, face, and abdomen.

As a result of adipose tissue loss, most patients with FPLD have low levels of the leptin hormone. A leptin deficiency disrupts the body's ability to regulate hunger and energy. Metabolic abnormalities often occur with FPLD and other lipodystrophy subtypes, including severe insulin resistance, diabetes, and high levels of triglycerides (fat) in the blood.

Trial Participation

What’s involved in the METRE-PL study?

Participation in the METRE-PL study may last for at least 17 months. In this study, you (or your child) will receive either metreleptin or a placebo, as an injection under your skin. A placebo injection looks like the metreleptin injection but does not contain any active medication. Both metreleptin and placebo will be referred to as the “study medication.” Neither you nor the study physician will know if metreleptin or a placebo is given.

As part of your (or your child's) participation, you (or your child) will receive a daily dose of the study medication for 12 months. The first study medication dose will be administered to you (or your child) at your study location, and you are responsible for administering all subsequent doses for the remainder of the study. The daily dose requires an injection of the study medication under your (or your child's) skin.

After completing the 12-month study, you will be offered to enroll in an expanded access program (EAP) where you will receive metreleptin as per your country-specific rules.

During the study, you (or your child) will be required to:

• Take the study medication daily
• Go to the study location for study visits
• Follow a specific diet
• Continue taking your (or your child’s) regular medications while receiving the study medication, if applicable

In addition, there will be several laboratory assessments designed to monitor your (or your child’s) health and condition throughout the study’s duration. These assessments include, but are not limited to, blood tests, urine tests, fasting, and optional genetic testing to confirm a diagnosis of FPLD.

To provide comprehensive support for enrolled study participants and their caregivers, all expenses related to travel, accommodation, and study assessments will be covered.

FAQs:

• What is Familial Partial Lipodystrophy (FPLD)?

Familial partial lipodystrophy (FPLD) is a genetic form of partial lipodystrophy (PL) that is characterized by deficiency of subcutaneous body fat (the fatty tissue layer that lies directly under the skin) in a partial fashion. Individuals with FPLD often have reduced subcutaneous fat in the arms and legs, and the head and torso regions may or may not have loss of fat. Conversely, individuals with FPLD may also have excess subcutaneous fat accumulation in other areas of the body, especially the neck, face, and intra-abdominal regions. The prevalence of FPLD is not well understood, and it is possible that the disease may be underdiagnosed.

• How can I confirm a diagnosis of FPLD?

To be eligible, you (or your child) will require a diagnosis of FPLD based on deficiency of partial subcutaneous body fat. This will be assessed by physical examination as part of the study. In addition, your (or your child’s) diagnosis will need to be confirmed by one (1) of the following

• Documented genetic diagnosis of FPLD (this can be based on a prior test, or one can be completed during the study)
• OR Documented evidence of positive family history (first degree biological relative) of FPLD Or
• Other criteria that include complications associated with partial lipodystrophy (PL)

• What is involved in the METRE-PL study?

Participation in the METRE-PL study may last for at least 17 months. In this study, you (or your child) will receive either metreleptin or a placebo, as an injection under your skin. A placebo injection looks like the metreleptin injection but does not contain any active medication. Both metreleptin and placebo will be referred to as the “study medication.” Neither you nor the study physician will know if metreleptin or a placebo is given.

As part of your (or your child's) participation, you (or your child) will receive a daily dose of the study medication for 12 months. The first study medication dose will be administered to you (or your child) at your study location, and you are responsible for administering all subsequent doses for the remainder of the study. The daily dose requires an injection of the study medication under your (or your child's) skin.

After completing the 12-month study, you will be offered to enroll in an expanded access program (EAP) where you will receive metreleptin as per your country-specific rules.

During the study, you (or your child) will be required to:

During the study, you (or your child) will be required to:

• Take the study medication daily
• Go to the study location for study visits
• Follow a specific diet
• Continue taking your (or your child’s) regular medications while receiving the study medication, if applicable

In addition, there will be several laboratory assessments designed to monitor your (or your child’s) health and condition throughout the study’s duration. These assessments include, but are not limited to, blood tests, urine tests, fasting, and optional genetic testing to confirm a diagnosis of FPLD.

To provide comprehensive support for enrolled study participants and their caregivers, all expenses related to travel, accommodation, and study assessments will be covered.