Batten CLN1
Batten Disease is a genetic disease caused by an autosomal recessive mutation. The infantile onset form termed CLN1 disease is characterized by progressive intellectual and motor deterioration, seizures, loss of vision, and early death. There is currently no treatment for CLN1.
We are developing a recombinant human enzyme replacement therapy for CLN1. A recent paper from our collaborators described the efficacy of this protein in mice and sheep. We are currently manufacturing the protein in preparation for IND enabling toxicity testing. This protein will be delivered ICV. We have had our preIND meeting with the FDA (May 2023).
We have an orphan drug designation and rare pediatric disease designation for this treatment for this disease.
We have also identified several novel small molecules as potential chaperones being tested in vitro.
If you are a CLN1 family and want to hear more about what we are doing please contact us. You can also learn more in our recent presentation below.These foundations also have useful information:
https://haleysheroesfoundation.org
Nelvagal HR, Eaton SL, Wang SH, Eultgen EM, Takahashi K, Le SQ, Nesbitt R, Dearborn JT, Siano N, Puhl AC, Dickson PI, Thompson G, Murdoch F, Brennan PM, Gray M, Greenhalgh SN, Tennant P, Gregson R, Clutton E, Nixon J, Proudfoot C, Guido S, Lillico SG, Whitelaw CBA, Lu JY, Hofmann SL, Ekins S, Sands MS, Wishart TM, Cooper JD. Cross-species efficacy of enzyme replacement therapy for CLN1 disease in mice and sheep. J Clin Invest. 2022 Oct 17;132(20):e163107. doi: 10.1172/JCI163107. PMID: 36040802