Blog Archives

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

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 and older. 

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

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 of white blood cells called histiocytes,

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

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 target a disease caused by mutations in a specific human gene (i.e.,

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

 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 medicinal product Burosumab (Crysvita),

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Twin cities facing genetic disaster: Fumarase deficiency

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,

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

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 achievement of merging top notch sience from engineering to artificial intelligence to genetics,

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

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 medicines for rare diseases.

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

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 transplant.

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

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 patients worldwide and which can be caused by a deficiency in the enzyme UMPS

Hereditary orotic aciduria is inherited from a recessive gene.

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

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,

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