Biotech companies are navigating new trends in addressing rare diseases, conditions effecting 200,000 or fewer Americans. Jeremy Springhorn (Alexion Pharmaceuticals), Andrew Curtis (Pfizer), Marc Beer, (Aegerion Pharmaceuticals) and Susan Kahn (National Tay-Sachs & Allied Disease Association), shared their perspectives on the future of new treatments for rare diseases during a panel discussion at the International BIO Convention in Washington D.C.

Alexion Pharmaceuticals invented Soliris, the first and only therapy for treating Paroxysmal Nocturnal Hemoglobinuria (PNH), a rare, progressive and life-threatening disease defined by hemolysis, the destruction of red blood cells.

Pfizer created a new research unit in 2010 with the goal of leveraging existing scientific experience in rare diseases, such as hemophilia, to discover novel, life-saving medicines for patients with large unmet medical need.

Aegerion Pharmaceuticals is developing a new drug to treat Homozygous Familial Hypercholeterolemia (HoFH), a rare genetic lipid disorder resulting in an accumulation of low density lipoprotein (LDL-C) often referred to as bad cholesterol in the blood.

The National Tay-Sachs & Allied Disease Association is directly funding research to treat and cure Tay-Sachs, Canavan and related genetic disease and supporting affected families and individuals. Tay-Sachs disease is a rare progressive neurological genetic disorder that is caused by the absence or insufficient level of a vital enzyme called Hexosaminidase (Hex-A). All children with classic Tay-Sachs disease die early in childhood, usually by the age of 5, and today there is no cure or effective treatment. Jeremy Springhorn summed up the sentiments of the panelists: “To commit to putting the resources it takes to developing treatments for rare diseases, our focus is and will always remain on the patient.”

Molly Ingraham
California Health Care Institute

2 thoughts on “CHI Reports – How Biotech Companies are Shaping the Future in Rare Diseases”

  1. Jay Frame says:

    More recently, Soliris (Alexion Pharmaceuticals) has been approved by the FDA to treat patients with atypical Hemolytic Uremic Syndrome (aHUS), a rare and chronic blood disease that can lead to kidney (renal) failure and is also associated with increased risk of death and stroke.

  2. Heather Earley says:

    Thank you for this wonderful update Jay!

    – The Global Genes Team

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