We are on track to meet or exceed all of our key strategic priorities for the year - continued success for Galafold, tremendous momentum in our Phase 3 Pompe clinical study, positive interim Phase 1/2 clinical data for our first gene therapy for CLN6
Batten disease, and an industry leading rare disease gene therapy portfolio.
The Hollywood couple, film producer Gordon Gray and his wife, Kristen, were able to get two daughters treated at Nationwide Children's Hospital about one year after the girls were found to have Batten Cln6
, an inherited nervous-system disease believed to affect just a few hundred kids.
The lead programmes in CLN6
, CLN3, and CLN8 Batten disease are potential first-to-market curative therapies for these rare, devastating diseases.
We will follow a novel integrated strategy to identify specific gene and small molecule treatments for three genetic types of Batten disease that include the most prevalent world-wide, juvenile CLN3 disease, and in southern and mediterranean Europe, CLN6
and CLN7 diseases.
Table 4 Participants AMFOR Network Entrepreneurs RP1, RP2, RP3, RP4, RP5, RP6, RP7, RP8, RP9 Suppliers FORN1, FORN2, FORN3, FORN4 Customers CLN1, CLN2, CLN3, CLN4, CLN5, CLN6
, CLN7 Consultants CONS1, CONS2, CONS3 University UNIV1 Supporting organizations INST1, INST2, INST3, INST4, INST5, INST6 Districts Associations ASSOC1, ASSOC2, ASSOC3, ASSOC4, ASSOC5, ASSOC6, ASSOC7, ASSOC8 Note.
A missense mutation in ovine CLN6
causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6
Son yillarda ulkemizde gec infantil noronal seroid lipofusinozun Turk tipi tanimlanmis olup CLN6
, CLN8 ve MFSD8 genlerinde mutasyonlar tespit edilebilmektedir (2).
Progress toward the cloning of CLN6
, the gene underlying a variant LINCL.
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative diseases that include infantile NCL (INCL; OMIM 256730, where the defective gene is CLN1), classical late infantile NCL (LINCL; OMIM 204500, where the defective gene is CLN2), two variant late infantile NCLs (OMIM 256731, where the defective gene is CLN5; and OMIM 601780, where the defective gene is CLN6
), juvenile NCL (JNCL; OMIM 204200; defective gene, CLN3), a juvenile onset epilepsy with progressive mental retardation (EPMR; OMIM 600143; defective gene, CLN8), and adult NCL (Kufs disease; OMIM 204300; defective gene, CLN4) [reviewed in Ref.
Amicus Therapeutics announced "positive" interim results from its CLN6
Batten disease gene therapy program licensed from the Abigail Wexner Research Institute at Nationwide Children's Hospital.
Key Highlights of Amicus-Thermo Fisher Scientific Partnership: Batten disease programs: current research and development production technologies and capabilities related to the Amicus preclinical and clinical-stage gene therapy programs for CLN6
, CLN3, and other potential Batten disease programs are being transferred to and developed at Thermo Fisher's viral vector services business.
The lead programs in CLN6
, CLN3, and CLN8 Batten disease are potential first-to-market curative therapies for these diseases.