Rare diseases Xagena
BioMarin has announced that the FDA ( Food and Drug Administration ) has approved Vimizim ( Elosulfase alfa ) for patients with mucopolysaccharidosis type IVA ( MPS IVA; Morquio A syndrome ).Vimizim i ...
Pallister-Killian syndrome ( PKS ) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, se ...
Chronic inflammatory demyelinating polyradiculoneuropathy ( CIDP ) causes progressive or relapsing weakness and numbness of the limbs, developing over at least two months. Uncontrolled studies sugge ...
Ochronosis / Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the a ...
The first clinical trial of a drug intended to delay the onset of symptoms of Huntington disease ( HD ) has revealed that high-dose treatment with the nutritional supplement Creatine was safe and well ...
Only 70-80% of patients with chronic inflammatory demyelinating polyneuropathy ( CIDP ) respond satisfactorily to the established first-line immunomodulatory treatments. Autologous haematopoietic st ...
The FDA ( Food and Drug Administration ) has approved Ravicti ( Glycerol phenylbutyrate ) for the chronic management of some urea cycle disorders ( UCDs ) in patients ages 2 years and older. Urea c ...
Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of c ...
The prospective, multicenter, single-arm, open-label phase III PRIMA trial has evaluated the efficacy and safety of Privigen ( 10% liquid human intravenous immunoglobulin [ IVIG ], stabilized with L-p ...
Chronic inflammatory demyelinating polyradiculoneuropathy ( CIDP ) is a disease causing progressive or relapsing and remitting weakness and numbness. It is probably due to an autoimmune process. Immun ...
Disseminated superficial actinic porokeratosis ( DSAP ) is a disease described in 1966 by Chernosky, and represents the most common form of porokeratosis, a group of diseases characterized by epiderma ...
Rhizomelic chondrodysplasia punctata ( RCDP ) is a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmental impairments and immobi ...
Fahr’s disease or Fahr’s syndrome is a rare neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. Calcified deposits are made up of calcium carbonate ...
Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid ( HGA ) to maleylacetoacetic acid in the tyrosine degradation pathway. The three majo ...
Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis ( FAP ) has changed, with duodenal cancer currently being the main cause of death. Although Celecoxib ( Celebre ...
