The company said that RGX-181 is a one-time treatment candidate for late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, one of the most common forms of Batten disease caused by mutations in the tripeptidyl peptidase 1 (TPP1) gene.
Regenxbio is developing a new product candidate, RGX-181, for the treatment of late-infantile neuronal ceroid lipofuscinosis type 2 disease, one of the most common forms of Batten disease caused by mutations in the tripeptidyl peptidase 1 gene.
Here, we report results expanding the diagnostic portfolio to a 7-plex format including new assays for lysosomal enzymes tripeptidyl peptidase 1 (TPP1), [alpha]-N- acetylglucosaminidase (NAGLU), and lysosomal [beta]-glucuronidase (GUSB).
Tandem mass spectrometry assays Of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newborns.
In April 2017, the company received the second voucher following approval of Brineura, a new biological product for patients with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency, a form of Batten disease.
Additionally, LINCL is caused by mutations in the Cln2 gene that leads to the deficiency and/or loss of function of Tripeptidyl Peptidase 1 (TPP1) that leads to accumulation of autofluorescent storage materials in neurons and in other cells.
The recent realization that the CLN2 protein is identical to the lysosomal enzyme tripeptidyl peptidase I (TPP-I) (10-12) should simplify detection of CLN2 deficiencies because this assay is simpler and uses a commercially available substrate.
Although there also exists a neutral tripeptidyl peptidase, experiments investigating the pH dependence of tripeptidyl peptidase activity in control and LINCL leukocytes, lymphoblasts, fibroblasts, and brain indicated that it did not contribute to the CLN2-derived activity at pH 4.0 (data not shown).
- The European Commission has granted marketing authorisation for US=based BioMarin Pharmaceutical Inc.'s (NASDAQ: BMRN) Brineura (cerliponase alfa), the first treatment approved in the European Union for the treatment of neuronal ceroid lipofuscinosis type 2, also known as tripeptidyl peptidase 1 deficiency, the company said.
On 27 April 2017 the US Food and Drug Administration approved Brineura to slow the loss of ambulation in symptomatic pediatric patients three years of age and older with late infantile neuronal ceroid lipofuscinosis type 2, also known as tripeptidyl peptidase 1 deficiency.