Genetic & Metabolic
This unit focus on providing meaningful advances to patients who live with serious and life-threating rare genetic diseases, operates through 6 main areas:
- Metabolic diseases
- immunology/inflammation
- Oncology
- Cardiology neonatology
- Hepatology
- hemophilia
- Brineura (cerliponase alfa) for CLN2 disease.
- Vimizim (elosulfase alfa) for Morquio A Syndrome MPS IVA.
- Kuvan (sapropterin dihydrochloride) Tablets for Oral Use and Powder for Oral Solution for PKU.
- Naglazyme (galsulfase) for MPS VI.
- Firdapse (amifampridine phosphate) (currently approved in the EU only) for LEMS.
- Ammonul® (sodium phenylacetate and sodium benzoate treatment for acutehyperammonemia.
- Ammonaps® (sodium phenylbutyrate) treatment for chronic hyperammonemia.
- Ravicti (Glycerol phenylacetate) treatment for Chronic hyperammonemia.
- Orfadin (nitisinone) treatment for tyrosinemia type 1.
- Kineret® (anakinra) treatment for Neonatal onset multisystem inflammatory disease.
- Alprolix Eftrenonacog alfa treatment for hemophilia B.
- Elocta® efmoroctocog alfa treatment for hemophilia A.
- Aldurazyme(laronidase) treatment for MPS type I.
- Myozyme(alglucosidase alfa) treatment for pompe disease.
- Cerezyme(imiglucerase) treatment for Gaucher disease.
- Cerdelga (eliglustat) treatment for adult Gaucher disease.
- Carbaglu (carglumic acid) treatment of acute hyperammonemia.
- Cosmegen (Dactinomycin) treatment regimen for metastatic, nonseminomatous testicular cancer.
- Cystadane (betaine anhydrous for oral solution) treatment of homocystinuria.
- Cystadrops (Cysteamin) treatment of corneal cystine crystal deposits.
- Cystagon (Cysteamine bitartrate) treatment of nephropathic cystinosis.
- Normosang (human hemin) treatment of acute attacks of hepatic porphyria.
- Pedea (ibuprofen)Treatment of a haemodynamically significant patent ductus arteriosus.
- Vedrop (tocofersolan) vitamin E deficiency.
- Wilzin (zinc acetate dehydrate) Treatment of Wilson's disease.
