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Ultra-Rare Diseases: BioBlast Pharma Orphan Drug Designations

November 20, 2014

BioBlast Pharma, a Tel Aviv, Israel-based clinical-stage biotech founded in 2012, is developing a platform of products for rare and ultra-rare genetic diseases.

I – Cabaletta For Oculopharyngeal Muscular Dystrophy (OPMD)

BioBlast Pharma’s most advanced product Cabaletta, a mutant protein stabilizing platform, is in a Phase II clinical trial (HOPEMD) for the treatment of Oculopharyngeal Muscular Dystrophy (OPMD). Cabaletta is an IV formulation of Trehalose, which the company says enables the drug to reach muscles. Trehalose prevents aggregation of proteins in cells. BioBlast Pharma receives FDA Orphan Drug Designation (ODD) in October 2013 for Cabaletta (Trehalose) for the treatment of OPMD.

OPMD is a rare genetic condition and form of muscular dystrophy that begins usually after age 40. It effects the muscles of the eyelid first, resulting usually in droopy eyelids (ptosis), followed by problems with swallowing (dysphagia). Patients with OPMD can also have weakness in the muscles near the center of the body (proximal muscles). There is currently no medical therapy that can alleviate symptoms or slow the progression of OPMD.

OPMD is caused by a genetic defect in a gene that encodes a protein called PABPN1. The mutation can be diagnosed by a molecular blood test.

II – Cabaletta For Spinocerebellar Ataxia Type 3 (SCA3)

BioBlast Pharma announces on November 19th, that Trehalose receives FDA ODD for the treatment of Spinocerebellar Ataxia Type 3 (SCA3). This is the 2nd FDA ODD for Cabaletta. A Phase II clinical trial to test the efficacy of Cabaletta in SCA3 is currently being conducted and a SCA3 pivotal study is planned to start in 2015.

SCA3 is a genetic disease where patients have memory deficits, difficulty with swallowing and speech, and other muscular disorders. SCA3 begins in early adolescence and progresses over time. It is an incurable disease with no currently approved treatment. SCA3 is caused by an expansion of a gene called ATXN3. Currently there is no treatment that is effective.

BioBlast Pharma FDA ODDs For Cabaletta

# FDA ODD Date Indication
1 10.25.13 Occulopharyngeal Muscular Dystrophy (OPMD)
2 11.17.14 Spinal Cerebellar Ataxia type 3 (SCA3 or Machado Joseph disease)


Please Note: “Nessler Cylinders” by Panek (Own work) [GFDL or CC-BY-3.0 | via Wikimedia Commons.

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