RareDiseasesNews.net

Rare diseases Xagena

Xagena Mappa
Xagena Newsletter
OncologiaMedica.net
Medical Meeting

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 ...


The FDA ( Food and Drug Administration ) has approved Sylvant ( Siltuximab ) for the treatment of patients with multicentric Castleman’s disease ( MCD ) who are human immunodeficiency virus ( HIV ) ne ...


The application for marketing authorisation of Nintedanib, a tyrosine kinase inhibitor ( TKI ), for the treatment of idiopathic pulmonary fibrosis ( IPF ) has been validated and granted accelerated as ...


The involvement of optic and auditory pathways has rarely been studied in demyelinating polyneuropathies. A cohort of patients with acquired and genetic demyelinating neuropathy has been studied. T ...


The aim of a study was to determine whether the clinical characteristics and electrodiagnostic classification of nerve injury, and response to treatment differed in patients diagnosed with chronic inf ...


Lymphangioleiomyomatosis ( LAM ), sporadic or in women with tuberous sclerosis complex ( TSC ), is characterized by cystic lung destruction, lymphatic involvement ( eg, chylous pleural effusions, lymp ...


Sarepta Therapeutics has announced new pulmonary function data through week 120 from Study 202, a Phase IIb open-label extension study of eteplirsen in patients with Duchenne muscular dystrophy ( DMD ...


Sarepta Therapeutics has announced data through week 120 from Study 202, a phase IIb open-label extension study of Eteplirsen in patients with Duchenne muscular dystrophy ( DMD ). Results through more ...


The FDA ( Food and Drug Administration ) has approved Myalept ( Metreleptin for injection ) as replacement therapy to treat the complications of leptin deficiency, in addition to diet, in patients wit ...