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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 ...


Pseudomonas aeruginosa is the main pathogen in bronchopulmonary infections in cystic fibrosis ( CF ) patients. It can only be eradicated at early infection stages while reduction of its bacterial load ...


Nitisinone ( Orfadin ) has transformed the management of hereditary tyrosinaemia type 1 ( HT1 ). However, the risk of developing hepatocellular carcinoma is related to the age at which treatment is co ...


Alkaptonuria ( AKU ) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering therapy is being investigated for alkaptonuria. Nitisinone ( Orfadin ) decrea ...


Anakinra ( Kineret ) is a recombinant form of interleukin-1 receptor antagonist. It is the drug of choice for Schnitzler syndrome and cryopyrin-associated periodic syndromes. It has also recently be ...


The European Medicines Agency ( EMA ) has recommended Holoclar, the first advanced therapy medicinal product ( ATMP ) containing stem cells, for approval in the European Union ( EU ). Holoclar is a ...


The FDA ( Food and Drug Administration ) has approved Esbriet ( Pirfenidone ) as a treatment for idiopathic pulmonary fibrosis ( IPF ) in the United States. Idiopathic pulmonary fibrosis is a fatal ...


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 pati ...