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Rare diseases Xagena

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Xagena Newsletter
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The FDA ( U.S. Food and Drug Administration ) has approved Adynovate [ antihemophilic factor ( recombinant), PEGylated ], an extended circulating half-life recombinant Factor VIII ( rFVIII ) treatment ...


Hypophosphatasia ( HPP ) is a rare inheritable disease that results from loss-of-function mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase ( TNSALP ). Therapeutic option ...


Results from the phase II study of WT1 first-in-class immunotherapeutic anti-cancer treatment in multiple myeloma patients following autologous stem cell transplantation ( ASCT ) were presented. Ini ...


Results from a phase 2 clinical trial investigating Palovarotene for the treatment of fibrodysplasia ossificans progressiva ( FOP ) were presented. FOP is an extremely rare, serious disease in which ...


The positive results of the first pivotal phase 3 study of the investigational medicine Epidiolex ( Cannabidiol or CBD ) for the treatment of Dravet syndrome were announced. In this study, Epidiolex ...


Transthyretin ( TTR ) amyloidosis is a progressive systemic disorder caused by misfolded TTR monomers that cumulatively deposit in the heart and systemically as amyloid. A phase 2 open-label trial ...


The FDA ( Food and Drug Administration ) has approved Vonvendi ( von Willebrand factor [ recombinant ] ). Vonvendi is the first and only recombinant treatment for adults living with von Willebrand Dis ...


The FDA ( Food and Drug Administration ) has granted Breakthrough Therapy designation to Olipudase alfa. This enzyme replacement therapy is being investigated for the treatment of patients with non-ne ...


Using combinations of well-known approved drugs has for the first time been shown to be potentially safe in treating a rare disease. The study has also shown some promising preliminary results for th ...


The FDA ( Food and Drug Administration ) has approved Natpara ( Parathyroid hormone ) to control hypocalcemia ( low blood calcium levels ) in patients with hypoparathyroidism, a rare disease that affe ...


A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease ( LOPD ) in a large high-risk population, using the dried blood spot ( DBS ) as a main screening tool. ...


The results from the ENCORE study exploring Cerdelga ( Eliglustat ) as a maintenance therapy suitable for adult patients who had reached pre-specific treatment goals on enzyme replacement therapy ( ER ...


Alkaptonuria ( AKU ) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase ( HGD ) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project ...


Attacks of neuropathic pain, usually abdominal, are characteristic of the acute porphyrias and accompanied by overproduction of heme-precursor molecules, specifically delta-aminolevulinic acid and por ...


The European Medicines Agency ( EMA ) has recommended granting a marketing authorisation to Jinarc ( Tolvaptan ). Jinarc is indicated to slow the progression of cyst development and failing kidney f ...