by Peter Ciszewski | Nov 2, 2017
Overview X-linked juvenile retinoschisis (XLRS) is a genetic ocular disease characterized by reduced visual acuity in males due to juvenile macular degeneration. Symptoms X-linked juvenile retinoschisis manifests with poor vision and reading difficulties. In severe...
by Peter Ciszewski | Nov 1, 2017
Overview Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick Disease Types A (NPD A) and Type B (NPD B), is a rare lysosomal storage disease. It is a serious and potentially life-threatening genetic disorder that causes accumulation of the...
by Peter Ciszewski | Nov 1, 2017
The Food and Drug Administration granted accelerated approval to acalabrutinib (Calquence, AstraZeneca Pharmaceuticals) for treatment of adult patients with mantle cell lymphoma (MCL) who have received at least one prior therapy. Approval was based on Study LY-004, an...
by Peter Ciszewski | Oct 20, 2017
Amit Rakhit, MD, Chief Medical and Portfolio Officer of Ovid Therapeutics, discusses the challenges of diagnosing rare disorders in general, and Fragile X and Angelman syndromes specifically. Family physicians, pediatricians, and other primary health care...
by Peter Ciszewski | Oct 18, 2017
Douglas Paul, PharmD, PhD discusses the Orphan Drug Act and what the term “Orphan” means in context of the the Rare Disease industry, especially considering that much of the Rare Disease pipeline is for Oncology products. The Orphan Drug Act was first...
