by Peter Ciszewski | Nov 21, 2020
The U.S. Food and Drug Administration (FDA) has approved Zokinvy (lonafarnib) to treat progeria, a rare disease often known as the advanced aging disease. More specifically, the FDA has approved lonafarnib capsules to reduce the risk of death due to Hutchinson-Gilford...
by Peter Ciszewski | Nov 20, 2020
Taylor Sabky, mother of a 3-year-old boy who died of Niemann-Pick disease type A, provides advice to parents who face similar tragic diagnoses. As Taylor explains in this video, finding groups that can provide advice and support is extremely important to help...
by Peter Ciszewski | Nov 19, 2020
Molly and Adam Fleming, the parents of Natalie, a young girl with Rett Syndrome, discuss the treatment landscape for Rett and their hopes for future treatments. Rett Syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These...
by Peter Ciszewski | Nov 18, 2020
Irina Anselm, MD, from Boston Children’s Hospital provides an overview of treatment options for aromatic L-amino acid decarboxylase (AADC) deficiency. AADC deficiency is a rare neurodegenerative disease caused by a defect in the dopa decarboxylase (DDC) gene...
by Peter Ciszewski | Nov 17, 2020
Justin Hopkin, MD is the father of a child with Acid Sphingomyelinase Deficiency (ASMD), also referred to as Niemann-Pick types A and B. He is also the Board Chair for the National Niemann-Pick Disease Foundation (NNPDF), a patient advocacy group that helps...
