Rare diseases Xagena
Although various modalities of treatment of chronic inflammatory demyelinating polyradiculopathy ( CIDP ) there are not any treatment protocol agreed. Researchers have retrospectively evaluated the ...
Office of Orphan Products Development ( OOPD ) of the Food and Drug Administration ( FDA ) has granted orphan drug designation for drug candidate, Erdosteine, for the treatment of bronchiectasis. Erdo ...
The FDA ( Food and Drug Administration ) has granted an orphan drug designation ( ODD ) to Soliris ( Eculizumab ), a first-in-class terminal complement inhibitor, for the prevention of delayed graft f ...
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 ...
