Rett syndrome (RTT) is a rare neuro-developmental disorder (incidence: approximately one out of 10,000 female births) that reached worldwide prominence in the early 1980s. Owing to its predominance in females, Rett syndrome is regarded as a genetic disorder. Over the past 25 years, understanding of the clinical features and natural history of this unique neuro-developmental disorder has evolved dramatically. Significant advances have emerged in recent years regarding our understanding of the clinical features, molecular genetics and neurobiology of Rett syndrome, particularly following the recognition that mutations in the gene, MECP2, are responsible.
In the absence of a fundamental therapy, efforts have been directed to developing rational intervention strategies. The therapeutic management of individuals with neuro-developmental disorders is complex and requires reviewing the entire spectrum of symptoms that relate to each specific disorder.
In the past few years, there have been an increasing understanding of different pathophysiological pathway having significant role in Rett syndrome symptomatology for instance, BDNF regulation, glutamate pathway, insulin growth factor involvement in brain development have resulted in increased number of products in pipeline acting through these pathways.
Moreover, in the context of improved regulatory environment, increased incentives & expedited process of approval causes increased focus of pharma companies in investing in therapeutics of Rett syndrome.
The Rett syndrome market for the US, EU-5 and Japan is estimated to attain its peak sales in 2025 and is estimated to be worth of $ 1.97 Billion. Currently there are approximately forty products in development at various stages & most of the products are still at preclinical or discovery stage which shows increasing focus of various players in recent time.
Neuren pharmaceuticals, Newron pharmaceuticals, Anavex Life Sciences, GW pharmaceuticals & Neurolixis have received orphan drug designations for their products. Edison pharmaceuticals, Novartis & Ultragenyx have already advanced their products in Phase II. Raptor Pharmaceuticals, Revive Therapeutics, ArmaGen, Inc, OPKOCURNA, Eloxx Pharmaceuticals, Mitochon Pharmaceuticals, Oryzon, SAGE Therapeutics & Neurotrope BioScience have products in preclinical stage & few of them are likely to enter in phase I at this year-end.
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