Drugs diseases ultra orphan
Biotech companies developing and marketing orphan and ultra-orphan drugs have done exceptionally well in 2013 and in recent years. These include such names as: Biomarin (NASDAQ:BMRN), Alexion (NASDAQ:ALXN), NPS Pharma (NASDAQ:NPSP), Synageva (NASDAQ:GEVA), Raptor (NASDAQ:RPTP), Sarepta (NASDAQ:SRPT), and others.
One company on few investors' radar is Retrophin (NASDAQ:RTRX), developing an ultra-orphan drug for a disease known as PKAN, Pantothenate kinase-associated neurodegeneration. PKAN is a neurodegenerative, autosomal recessive disease that primarily features excessive iron deposition in the basal ganglia due to mutations in the gene known as PANK2. PANK2 encodes an enzyme, pantothenate kinase, a key regulator enzyme in CoA synthesis.
Clinical Presentation of PKAN
The more common or "classic" form of PKAN presents in the first decade of life (88% before age 6) with a mean age of onset of 3.4 years. Presentation includes signs of a severe movement disorder including such symptoms as severe dystonia, dysarthria, rigidity and other Parkinsonian features. Symptoms may also include personality changes, psychiatric illness, retinitis pigmentosa, dementia, and chorea. Loss of ambulation inevitably deteriorates rapidly and death follows, usually within 10 ten years of diagnosis. An atypical form of PKAN is less severe and presents in the second to third decade of life, with the clinical hallmark of ongoing independent ability to ambulate
There is no current treatment for PKAN but naturally, since iron accumulation is a feature of the disease, iron chelation has been attempted, unsuccessfully. Efforts have also been made to treat the system with large amounts of pantothenate, but this too has failed.
Retrophin has developed RE-024, a proprietary form of phosphopantothenate which in mice with PANK deficits, has been shown to fully restore levels of CoA, unlike panthothenate or even phosphopantothenate.
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