Drugs currently in Phase 3 development include volanesorsen, a drug Isis is developing and plans to commercialize through its wholly owned subsidiary, Akcea Therapeutics, to treat patients with familial chylomicronemia
syndrome and familial partial lipodystrophy; ISIS-TTR[sub.
Thus, homozygosity for rare deleterious mutations in LPL leads to the chylomicronemia
syndrome characterized by severely increased triglycerides with excessive accumulation of chylomicrons and very large very-low-density lipoproteins in plasma.
Very severe triglyceride elevations (greater than 2,000 mg/dL) increase the risk of pancreatitis in the chylomicronemia
Lomitapide is being evaluated for its ability to reduce LDL-C levels in patients with HoFH and reduce triglyceride levels in patients with familial chylomicronemia
, or FC.
i) Familial Chylomicronemia
Syndrome with either Lipoprotein Lipase (LPL) Deficiency or Apolipoprotein C II deficiency or
Familial lipoprotein lipase deficiency and other causes of the chylomicronemia
caused by a novel type of mutation in the APOE-CI-CIV-CII gene cluster encompassing both the APOCTI gene and the first APOCIV gene mutation: APOCII-CIV (Nijmegen).
Also, the normal postprandial hypertriglyceridemia and chylomicronemia
are dramatically decreased by ingesting fish oil.
In addition, we and Akcea plan to complete enrollment in the Phase 3 study of volanesorsen in patients with familial chylomicronemia
syndrome this year.
For instance, some cases of familial chylomicronemia
result from mutations in the gene encoding lipoprotein lipase or its cofactor apoC-II.
Patients in this category have primary or secondary disorders of triglyceride metabolism; chylomicronemia
is often present.
Akcea's most advanced program, volanesorsen, is in Phase 3 development to treat patients with ultra-orphan lipid disorders that are characterized by extremely high triglycerides and ApoC-III, including familial chylomicronemia
syndrome (FCS) and familial partial lipodystrophy (FPL).