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Data of the first phase IIIb/IV study, AMBITION, were presented at the ERS International Congress 2014. The study has investigated combination therapy of Ambrisentan and Tadalafil in treatment naïve p ...


Although various modalities of treatment of chronic inflammatory demyelinating polyradiculopathy ( CIDP ) there are not any treatment protocol agreed. Researchers have retrospectively evaluated the ...


The FDA ( Food and Drug Administration ) has announced the approval of Lumizyme ( Alglucosidase alfa ) for treatment of patients with infantile-onset Pompe disease, including patients who are less tha ...


Researchers have compared the phase II and phase III ( EMPOWER ) studies of Dexpramipexole in amyotrophic lateral sclerosis ( ALS ) and have evaluated potential EMPOWER responder subgroups and biomark ...


Tyrosinaemia type 1 ( HT1 ) is a rare disorder of tyrosine metabolism leading to liver failure and hepatocellular carcinoma. Treatment previously consisted of dietary restriction and orthotopic liver ...


A study has assessed the efficacy and safety of Olesoxime, a molecule with neuroprotective properties, in patients with amyotrophic lateral sclerosis ( ALS ) treated with Riluzole ( Rilutek ). A do ...


The neurite outgrowth inhibitor, Nogo-A, has been shown to be overexpressed in skeletal muscle in amyotrophic lateral sclerosis ( ALS ); it is both a potential biomarker and therapeutic target. A ...


The FDA ( Food and Drug Administration ) has approved Cerdelga ( Eliglustat ) capsules, the only first-line oral therapy for certain adult Gaucher disease type 1 patients. A small number of adult pa ...


Tyrosinemia type 1 ( HT1 ) is an inborn error of tyrosine catabolism caused by fumarylacetoacetase deficiency. Biochemically, this results in accumulation of toxic metabolites including succinylaceton ...


The European Commission has approved Kalydeco ( Ivacaftor ) for people with cystic fibrosis ages 6 and older who have one of eight non-G551D gating mutations in the cystic fibrosis transmembrane condu ...


Alkaptonuria ( AKU ) is a rare inherited metabolic disorder with severe premature spondyloarthropathy as a major manifestation. Although joint disease is a major feature, virtually all connective ti ...


Eculizumab ( Soliris ) is a humanized monoclonal antibody that targets complement protein C5 and inhibits terminal complement–mediated hemolysis associated with paroxysmal nocturnal hemoglobinuria ( P ...


Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. A study has evaluated patients who had a novel recessive disorder of glycosylation, with a ...


In two of three phase 3 trials, Pirfenidone ( Esbriet ), an oral antifibrotic therapy, reduced disease progression, as measured by the decline in forced vital capacity ( FVC ) or vital capacity, in pa ...


Bicuspid aortic valve ( BAV ) is the most frequent congenital heart disease with frequent involvement in thoracic aortic dilatation, aneurysm and dissection. Although BAV and Marfan syndrome ( MFS ) s ...