• The burden of familial chylomicronemia syndrome from the patients' perspective. (harvard.edu)
  • The burden of familial chylomicronemia syndrome: Results from the global IN-FOCUS study. (waylivra.eu)
  • Ionis will seek US and EU approvals to treat familial chylomicronemia syndrome in the first half of 2024. (citeline.com)
  • The medicine is used in: adults and children above the age of two years with generalised lipodystrophy (Berardinelli-Seip syndrome and Lawrence syndrome) and in adults and children above the age of 12 years with partial lipodystrophy (including Barraquer-Simons syndrome), when standard treatments have failed. (wikipedia.org)
  • Volanesorsen is an Apo-CIII inhibitor that is currently being investigated as a potential therapeutic to reduce hypertriglycerides in Familial Partial Lipodystrophy patients in the BROADEN study. (wikipedia.org)
  • In addition, PTC submitted an application to the Brazilian Health Regulatory Agency, Agência Nacional de Vigilância Sanitária (ANVISA), for approval of Waylivra for the treatment of familial partial lipodystrophy (FPL). (constantcontact.com)
  • WAYLIVRA is under regulatory review for the treatment of familial chylomicronemia syndrome, or FCS, and is currently in Phase 3 clinical development for the treatment of people with familial partial lipodystrophy, or FPL. (ean.org)
  • 3. Rosenson RS, Najera SD, Hegele RA: Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome. (testcatalog.org)
  • Familial chylomicronemia syndrome (FCS) or type 1 hyperlipoproteinemia in the Fredrickson-Levy classification, comprises monogenetic disorders leading to significant fasting chylomicronemia. (diabetologie-online.de)
  • Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. (wikipedia.org)
  • This includes disorders such as Familial Chylomicronemia Syndrome (FCS) or other clinically associated conditions. (genomemedical.com)
  • Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders. (cdc.gov)
  • Patients who are eligible for this program may have an underlying genetic cause of their complications, such as Familial Chylomicronemia Syndrome or hyperlipoproteinemia. (genomemedical.com)
  • Alexion developed and commercializes Soliris ® (eculizumab), the first and only approved complement inhibitor to treat patients with atypical hemolytic uremic syndrome (aHUS), paroxysmal nocturnal hemoglobinuria (PNH), refractory generalized myasthenia gravis (gMG) and neuromyelitis optica spectrum disorder (NMOSD). (ean.org)
  • A group of concerned patients and care providers for a rare disease have announced the formation of the first-ever organization dedicated to providing education and support for people living with familial chylomicronemia syndrome (FCS), a rare and potentially life-threatening genetic lipid disorder. (endocrine.org)
  • In the 66 patient, 3-month, Phase III APPROACH trial, volanesorsen decreased triglycerides 77% vs an 18% increase with placebo in patients with familial chylomicronemia syndrome. (prescriberight.com)
  • Volanesorsen reduced fasting triglyceride (TG) by 35-42% at 12 months, in patients with familial chylomicronaemia syndrome (FCS) who had completed index studies or were treatment-naïve. (triglycerideforum.org)
  • Akcea Therapeutics, an affiliate of Ionis Pharmaceuticals Inc (NASDAQ: IONS) announced that the Endocrinologic and Metabolic Drugs Advisory Committee, which met to discuss the safety and efficacy of subcutaneously injected volanesoren solution for patients with familial chylomicronemia syndrome, voted 12-8 to support its approval. (www-topstocks.com)
  • In her role Jill will be responsible for patient advocacy and patient support projects focusing on rare familial lipid conditions - HoFH and FCS. (actionfcs.org)
  • These elevations can be indicative of a genetic deficiency in lipid metabolism or transport, nephrotic syndrome, endocrine dysfunction, or even cholestasis. (testcatalog.org)
  • Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome. (bvsalud.org)
  • Lauren Williams, Katherine S. Rhodes, et al (2018) Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span. (heartuk.org.uk)
  • 1 "Chylomicronemia syndrome" refers to the presence of at least 1 clinical feature accompanying primary chylomicronemia, such as eruptive xanthomas, lipemia retinalis, pancreatitis, or hepatosplenomegaly. (ptcbio.com)
  • Abdominal pain in individuals with familial LPL deficiency may result from recurrent episodes of inflammation of the pancreas (pancreatitis). (digestivetracthealth.com)
  • However, these complications are unusual in individuals with familial LPL deficiency. (digestivetracthealth.com)
  • Foam cells in individuals with familial LPL deficiency abnormally accumulate in the bone marrow, liver and spleen. (digestivetracthealth.com)
  • Leptin replacement therapy with human recombinant leptin metreleptin has been shown to be an effective therapy to alleviate the metabolic complications associated with lipodystrophy, and has been approved by the FDA for the treatment of generalized lipodystrophy syndromes. (wikipedia.org)
  • Waylivra is the only treatment for familial chylomicronemia syndrome (FCS) in Brazil. (constantcontact.com)
  • Low ApoCII levels are also seen in people with a rare condition called familial apoprotein CII deficiency. (medlineplus.gov)
  • Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called triglycerides. (digestivetracthealth.com)
  • Most cases of familial LPL deficiency are identified during childhood, usually before the age of 10. (digestivetracthealth.com)
  • The severity of familial LPL deficiency varies depending upon the degree of chylomicronemia, which fluctuates depending upon the amount fat in an individual's diet. (digestivetracthealth.com)
  • The most common symptom of familial LPL deficiency is episodic Abdominal pain . (digestivetracthealth.com)
  • In familial LPL deficiency, macrophages ingest excess triglyceride and transform into foam cells. (digestivetracthealth.com)
  • Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome. (cdc.gov)
  • Get your Free Guide to FCS and gain access to helpful information about the signs and symptoms of familial chylomicronemia syndrome. (fcsfocus.ca)
  • Familial chylomicronemia syndrome (FCS) is a rare, autosomal recessive disorder of chylomicron metabolism that results from loss-of-function mutations within the genes that encode key checkpoint molecules in lipolysis. (ptcbio.com)
  • BALANCE is a clinical study of an investigational antisense drug for treating Familial Chylomicronemia Syndrome (FCS). (ionistrials.com)
  • Read the Rare Revolution Spotlight Edition on Familial Chylomicronaemia Syndrome, published to celebrate FCS Awareness Day. (actionfcs.org)
  • In this lecture, he provides an overview of the new treatments based on ApoC3 and AngPTL3 inhibition leading to a breakthrough in the treatment of Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome. (eas-society.org)
  • HIV, or human immunodeficiency virus, can lead to a disease known as AIDS (acquired immunodeficiency syndrome). (everyone.org)
  • Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant. (harvard.edu)
  • connect and support others with familial chylomicronemia syndrome (FCS). (fcsfocus.com)