Date: 2015-12-09
Type of information: Collaboration agreement
Compound: compounds modulating alternative splicing of the IKBKAP pre-mRNA
Company: PTC Therapeutics (USA - NJ) Massachusetts General Hospital (USA - MA)
Therapeutic area: Rare diseases - Genetic diseases
Type agreement: collaboration R&D
Action mechanism:
Disease: rare genetic disorders resulting from pre-mRNA splicing defects including familial dysautonomia
Details: * On December 9, 2015, PTC Therapeutics has entered into a research collaboration with Massachusetts General Hospital (MGH, a Partners Healthcare hospital) for the treatment of rare genetic disorders resulting from pre-mRNA splicing defects. Under the terms of the agreement, PTC gains an exclusive worldwide license to compounds that modulate alternative splicing of the IKBKAP pre-mRNA - the predominant cause of familial dysautonomia (FD), also known as Riley-Day syndrome, a rare life-threatening genetic disorder that affects the autonomic and sensory nervous systems of children from birth. It affects every major system of the body, causing severe respiratory, cardiovascular, orthopedic, digestive, renal, and vision problems. The most striking symptoms of FD are reduced sensitivity to pain and temperature, and the inability to produce tears. Children with FD suffer from chronic and often debilitating symptoms that prevent them from leading normal lives. FD is caused by mutations in the IKBKAP gene. Most FD patients are homozygous for a single nucleotide mutation in intron 20 that leads to alternative splicing of exon 20 and low levels of IKAP protein, predominantly in the nervous system. This mutation leads to reduced protein expression in all tissues, with the most significant reduction in neuronal tissue.
Financial terms: PTC will pay an upfront license fee, make payments upon successful completion of certain development and commercialization milestones, as well as royalties on worldwide product sales. PTC will fund collaborative research and licensing activities, as well as be responsible for the development and commercialization of products arising from the collaboration.
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