June 26, 2018 – The American Food and Drug Administration (FDA) just approved Cannabidiol (Epidiolex), for the treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome, two rare and severe forms of epilepsy, in patients two years of age …

Epidiolex: Marijuana-derived drug to treat rare forms of epilepsy Read more »

Dezember 21, 2017 – Erdheim–Chester disease ((ECD), also known as Erdheim–Chester syndrome or polyostotic sclerosing histiocytosis) is a form of a bone marrow borne blood cancer. It is a rare disease characterized by the abnormal multiplication of a specific type …

Vemurafenib (Zelboraf) for BRAF V600E positive Erdheim-Chester Disease (ECD) Read more »

December 20, 2017 –  The American Food & Drug Administration (FDA) has just approved  a novel gene therapy to treat patients with a rare form of inherited vision loss. Voretigene Neparvovec-Rzyl (Luxturna) is the first directly administered gene therapy approved to …

Voretigene Neparvovec-Rzyl (Luxturna): Gene therapy to treat inherited vision loss Read more »

 December 16, 2017 – As recent as of December 14, 2017, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has adopted a positive opinion, recommending the granting of a conditional marketing authorisation for the …

X-linked Hypophosphatemia: Burosumab (Crysvita) to the rescue Read more »

August 03, 2017 – Fumarase deficiency is extremely rare – until around 1990 there had only been 13 diagnosed and identified cases worldwide. Fumarase deficiency is an autosomal recessive metabolic disorder characterized by a deficiency of the enzyme fumarate hydratase, which is indicated …

Twin cities facing genetic disaster: Fumarase deficiency Read more »

March 25, 2017 – The Boston-based start up company FDNA has launched an app-based tool for clinicians using facial recognition, artificial intelligence (AI) and genetic big data to improve rare disease diagnosis and treatment. If it were not for an incredible …

Face2Gene: tool using facial recognition, AI and genetic big data to improve rare disease diagnosis and treatment Read more »

September 30, 2016 – This is very good news for patients suffering from any form of a rare disease. The European Medicines Agency (EMA) and the American Food and Drug Administration (FDA) have engaged in a joint effort to boost development of …

Rare diseases: EU and US collaborate to boost development of therapies Read more »

April 02, 2016 – The European Medicines Agency (EMA) has recommended granting a marketing authorisation in the European Union (EU) for a new gene therapy for the treatment of patients with adenosine-deaminase-deficient severe combined immunodeficiency (ADA-SCID), who have no matching donor for a stem cell …

New hope for children with the ultra-rare immune disorder ADA-SCID: Gene therapy Strimvelis recommended for approval by EMA’s CHMP Read more »

September 06, 2015 – The American Food and Drug Administration just approved Uridine Triacetate (Xuriden), the first FDA-approved treatment for patients with hereditary orotic aciduria. Hereditary orotic aciduria is a rare metabolic disorder, which has been reported in approximately 20 …

Uridine Triacetate (Xuriden), a new orphan drug approved to treat rare autosomal recessive disorder Read more »

August 1. 2014 – The U.S. Food and Drug Administration today announced the approval of Lumizyme (alglucosidase alfa) for treatment of patients with infantile-onset Pompe disease, including patients who are less than 8 years of age. In addition, the Risk …

US: Approval of Alglucosidase Alfa [Lumizyme] to treat Pompe disease expanded to patients of all ages Read more »