Infantile neuronal ceroid lipofuscinosis

Amicus Therapeutics Receives European Medicines Agency PRIME Designation for CLN6 Batten Disease Gene Therapy

Retrieved on: 
Thursday, September 24, 2020
Branches of biology, Lipid storage disorders, Rare diseases, Articles, Biology, CLN6, Neurodegenerative disorders, Neuronal ceroid lipofuscinosis, Batten disease, Biotechnology, CLN, Infantile neuronal ceroid lipofuscinosis

CRANBURY, N.J., Sept. 24, 2020 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel medicines for rare diseases, today announced the European Medicines Agency (EMA) has granted Priority Medicines (PRIME) designation to AT-GTX-501, the Companys investigational gene therapy for children living with variant late infantile neuronal ceroid lipofuscinosis 6 (vLINCL6) disease, also known as CLN6 Batten disease.

Key Points: 
  • CRANBURY, N.J., Sept. 24, 2020 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel medicines for rare diseases, today announced the European Medicines Agency (EMA) has granted Priority Medicines (PRIME) designation to AT-GTX-501, the Companys investigational gene therapy for children living with variant late infantile neuronal ceroid lipofuscinosis 6 (vLINCL6) disease, also known as CLN6 Batten disease.
  • The PRIME designation is based on data from the ongoing Phase 1/2 clinical trial evaluating a single dose of AT-GTX-501 for the treatment of children with CLN6 Batten disease.
  • We are very pleased that the EMA has recognized the potential of our CLN6 gene therapy.
  • We look forward to continuing to work closely with the EMA to accelerate development of this first potential treatment option for children living with CLN6 Batten disease.

Polaryx Therapeutics Receives IND Approval for PLX-200 From the FDA for the Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis

Retrieved on: 
Monday, January 20, 2020
Lipid storage disorders, Branches of biology, Rare diseases, Health, Medicine, Peptidase, Tripeptidyl peptidase I, Neuronal ceroid lipofuscinosis, Lysosomal storage disease, Infantile neuronal ceroid lipofuscinosis, NCL, Jansky–Bielschowsky disease

Neuronal Ceroid Lipofuscinoses are a group of rare autosomal recessive neurodegenerative lysosomal storage disorders.

Key Points: 
  • Neuronal Ceroid Lipofuscinoses are a group of rare autosomal recessive neurodegenerative lysosomal storage disorders.
  • Polaryx has advanced a unique repurposing drug development strategy to provide patients with a safe and effective oral treatment option.
  • "We are very excited about the IND approval from the FDA, as this will allow us to advance PLX-200 clinical studies for LINCL patients.
  • Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL or CLN2) is caused by deficiency and/or loss of TPP1 caused by mutations in the Cln2 gene.

REGENXBIO Announces Pipeline Expansion with RGX-181 Gene Therapy for CLN2 Form of Batten Disease

Retrieved on: 
Thursday, August 30, 2018
Lipid storage disorders, Rare diseases, Medicine, Health, Pediatrics, Batten disease, Neuronal ceroid lipofuscinosis, Tripeptidyl peptidase I, Lysosomal storage disease, Neurodegeneration, Infantile neuronal ceroid lipofuscinosis, Jansky–Bielschowsky disease

"For children living with Batten disease and their families, the promise of effective gene therapy gives incredible hope," said Margie Frazier, Ph.D., the Executive Director at the Batten Disease Support and Research Association.

Key Points: 
  • "For children living with Batten disease and their families, the promise of effective gene therapy gives incredible hope," said Margie Frazier, Ph.D., the Executive Director at the Batten Disease Support and Research Association.
  • "A diagnosis of Batten disease is devastating, yet children with the condition, and their families, face the disease with courage.
  • "Given the unmet need and the potential for NAV gene therapy, we believe CLN2 disease is a natural addition to our neurodegenerative disease pipeline," said Kenneth T. Mills, President and Chief Executive Officer of REGENXBIO.
  • Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a form of Batten disease, is a rare, pediatric-onset, autosomal recessive, neurodegenerative lysosomal storage disorder caused by mutations in the TPP1 gene.