Familial partial lipodystrophy (FPL)

What is Familial Partial Lipodystrophy (FPL)?

Lipodystrophies, including familiar partial lipodystrophies, are disorders characterized by a variable loss of adipose tissue (fat), without evidence of weight loss due to lack of food intake or increased energy expenditure, and metabolic complications¹. ​

​The signs and symptoms of FPL include²:​

• Selective and progressive loss of body fat (adipose tissue) in various areas of the body​
• Reduction of subcutaneous fat in the arms and legs​
• Onset during puberty​
• Excessive accumulation of fat in other areas of the body, mainly the neck, face, and intra-abdominal region​
• Hypertriglyceridemia​
• Insulin resistance​
• Diabetes​
• Extent of adipose tissue loss: determines the severity of associated metabolic complications​
• Other metabolic complications​
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FPL is a highly burdensome disease, leading to significant metabolic complications that are not managed by current therapies, and it is a distressing condition for the patient.

How common is FPL?

The global prevalence of Lipodystrophy is 3.07 cases per million inhabitants, with 2.84 cases per million being Partial Lipodystrophy³.

How is PTC working to treat Familial Partial Lipodystrophy?

PTC has a therapy for FPL that has been in-licensed in Latin America from Akcea Therapeutics, Inc., a wholly owned subsidiary of Ionis Pharmaceuticals, Inc.