CLN2

Human medicines European public assessment report (EPAR): Brineura, cerliponase alfa, Date of authorisation: 30/05/2017, Revision: 7, Status: Authorised

Retrieved on: 
Tuesday, January 2, 2024

Human medicines European public assessment report (EPAR): Brineura, cerliponase alfa, Date of authorisation: 30/05/2017, Revision: 7, Status: Authorised

Key Points: 


Human medicines European public assessment report (EPAR): Brineura, cerliponase alfa, Date of authorisation: 30/05/2017, Revision: 7, Status: Authorised

Initial Clinical Data of First Pediatric CLN2 Patient Dosed with RGX-181 Presented at SSIEM Annual Symposium

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Wednesday, August 30, 2023

"CLN2 is a debilitating disease caused by mutations in the CLN2 gene resulting in a deficiency of the TPP1 enzyme, which is needed to break down specific peptides associated with cellular waste.

Key Points: 
  • "CLN2 is a debilitating disease caused by mutations in the CLN2 gene resulting in a deficiency of the TPP1 enzyme, which is needed to break down specific peptides associated with cellular waste.
  • "We are encouraged by the initial results demonstrating that RGX-181 is well tolerated and dramatically reduced the number of seizures in the patient enrolled in this trial."
  • "The remarkable decrease in seizures, encouraging safety results and reduction in ERT frequency highlight the potential of this gene therapy to provide a meaningful treatment option to the CLN2 patient community."
  • Today, a physician investigator from the Hospital de Clinicas in Porto Alegre, Brazil reported initial results from a five-year-old child who received a one-time intracisternal dose of RGX-181.

REGENXBIO Announces Presentations at the Society for the Study of Inborn Errors of Metabolism Annual Symposium 2023

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Wednesday, August 23, 2023

ROCKVILLE, Md., Aug. 23, 2023 /PRNewswire/ -- REGENXBIO Inc. (Nasdaq: RGNX) today announced presentations at the Society for the Study of Inborn Errors of Metabolism Annual Symposium 2023 in Jerusalem, Israel (August 29 – September 1).

Key Points: 
  • ROCKVILLE, Md., Aug. 23, 2023 /PRNewswire/ -- REGENXBIO Inc. (Nasdaq: RGNX) today announced presentations at the Society for the Study of Inborn Errors of Metabolism Annual Symposium 2023 in Jerusalem, Israel (August 29 – September 1).
  • Investigators will deliver encore presentations of interim clinical trial data from REGENXBIO's pipeline of one-time investigational AAV Therapeutics for progressive, neurodegenerative lysosomal storage disorders, as well as initial interim data from the single-patient, investigator-initiated study of RGX-181 for the treatment of CLN2 disease.
  • Authors: Carolina Fischinger De Souza, M.D., Ph.D., Hospital de Clinicas de Porto Alegre, Brazil
    Authors: Michelle Wood, Great Ormond Street NHS Foundation Trust; Dawn Phillips, Ph.D., Yoonjin Cho, Ph.D., Caroline Mulatya, Catherine Wilson, D.P.T., Joe Hagood,

LEXEO Therapeutics Receives Orphan Drug Designation for LX1004 from European Commission

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Tuesday, October 18, 2022

NEW YORK, Oct. 18, 2022 (GLOBE NEWSWIRE) -- LEXEO Therapeutics (LEXEO), a clinical-stage biotech company advancing a pipeline of adeno-associated virus (AAV)-based gene therapy candidates for genetically defined cardiovascular and central nervous system (CNS) diseases, today announced that the European Commission has granted Orphan Drug Designation to LX1004 for the treatment of CLN2 Batten disease. LX1004 is an AAV-mediated gene therapy designed to deliver a fully functional CLN2 gene to the CNS via intracisternal injection to restore TPP1, the secreted protein that is deficient in patients with CLN2 Batten disease.

Key Points: 
  • LX1004 is an AAV-mediated gene therapy designed to deliver a fully functional CLN2 gene to the CNS via intracisternal injection to restore TPP1, the secreted protein that is deficient in patients with CLN2 Batten disease.
  • An End of Phase 1/2 Meeting with the FDA will be held by the end of 2022.
  • LEXEO has previously been granted Rare Pediatric Disease and Orphan Drug designations by the FDA.
  • LEXEO Therapeutics is a New York City-based, clinical-stage gene therapy company focused on addressing some of the most devastating genetically defined cardiovascular and central nervous system diseases affecting both larger-rare and prevalent patient populations.

REGENXBIO Announces Presentations at the 18th Annual WORLDSymposium™ 2022

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Monday, January 31, 2022

REGENXBIO Inc. (Nasdaq: RGNX) today announced that five oral and seven poster presentations will be presented at the 18th Annual WORLDSymposium, taking place in San Diego, CA from February 7 through 11, 2022.

Key Points: 
  • REGENXBIO Inc. (Nasdaq: RGNX) today announced that five oral and seven poster presentations will be presented at the 18th Annual WORLDSymposium, taking place in San Diego, CA from February 7 through 11, 2022.
  • The presentations include interim results from the Phase I/II clinical trials of RGX-121 for the treatment of mucopolysaccharidosis type II (MPS II), also known as Hunter Syndrome, and RGX-111 for the treatment of mucopolysaccharidosis type I (MPS I), also known as Hurler Syndrome.
  • The oral presentations will be presented as follows:
    Abstract Title: Treatment of cardiac, neurologic, and skeletal manifestations of murine MPS I with AAV9-IDUA: Efficacy study of vector dose and route of administration
    Presenter: Nidal Boulos, Ph.D., Director, Clinical Scientist at REGENXBIO Inc.
    Presenter: Kwi Hye Kim, Ph.D., Senior Scientist, Preclinical Development at REGENXBIO Inc.
  • REGENXBIO and its third-party NAV Technology Platform Licensees are applying the NAV Technology Platform in the development of a broad pipeline of candidates in multiple therapeutic areas.

M6P Therapeutics to Present at the 17th Annual International Congress on Neuronal Ceroid Lipofuscinosis

Retrieved on: 
Friday, October 8, 2021

Neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative disorder caused by autosomal recessive mutations in the TPP1 gene, leading to the deficiency of TPP1, a lysosomal enzyme.

Key Points: 
  • Neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative disorder caused by autosomal recessive mutations in the TPP1 gene, leading to the deficiency of TPP1, a lysosomal enzyme.
  • Batten disease originally referred specifically to the juvenile and most common form of neuronal ceroid lipofuscinosis (NCL), now known as CLN3 .
  • Most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form (neuronal ceroid lipofuscinosis 4B).
  • M6P Therapeutics mission is to translate advanced science into best-in-class therapies that address unmet needs within the LSD community.