Neuronal ceroid lipofuscinosis

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

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Friday, October 8, 2021
Health, Clinical Trials, Research, Pharmaceutical, Science, Biotechnology, Linda, Person, Epilepsy, Endocytosis, N, Nervous system, Therapy, LSD, Dementia, CLN3, Plasmid, Endoglycosidase H, Batten disease, A-DNA, Neuronal ceroid lipofuscinosis, CLN2, PNGase F, Glycogen storage disease, Drug development, Lysosome, Mannose, Neuron, Neurodegeneration, Washington University in St. Louis, Eric, M6P, Prevalence, Severe cognitive impairment, NCLS, Enzyme, Communication, International, NCL, Autosome, International Congress on Tuberculosis, Disease, Patient, Enzyme replacement therapy, TPP1, Research, Technology, Phosphorylation, Pharmaceutical industry, Fine chemical

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.

Taysha Announces Exclusive Option from UTSW to License Worldwide Rights to Clinical-Stage AAV9 Gene Therapy Program for CLN7 Disease, a Research Collaboration with UTSW to Develop Next-Generation Construct for CLN7 and a Grant Award to Batten Hope

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Tuesday, October 5, 2021
Science, Biotechnology, Research, Pharmaceutical, General Health, Health, Genetics, Clinical Trials, Treasurer, Neurodegeneration, Efficiency, Private Securities Litigation Reform Act, MFSD8, Gene, Real-time, Death, Ataxia, IND, Safety, AAV, SEC, Seizure, GMP, News, SURF1, Webcast, Pathology, Central nervous system, VG, Clinical Global Impression, Awareness, Disease, Neuronal ceroid lipofuscinosis, Survival, Incidence, U.S. Securities and Exchange Commission, CNS, Clinical trial, RNA transfection, Partnership, Patient, Annual report, Pediatrics, Dallas, FDA, Speech, Investor, Tissue, Brain, Forward-looking statement, Time, Department, Hope, Hospital, Batten disease, ET, Severe cognitive impairment, Associate, COVID-19, Research, Drug development, Quality of life, Nasdaq, UTSW, Assistant professor, Pharmaceutical industry

In addition, Taysha has provided a grant to Batten Hope to support patient awareness, disease education and newborn screening initiatives.

Key Points: 
  • In addition, Taysha has provided a grant to Batten Hope to support patient awareness, disease education and newborn screening initiatives.
  • CLN7 disease is a rare, fatal and rapidly progressive neurodegenerative disease that is a form of Batten disease.
  • CLN7 is caused by autosomal recessive mutations in the MFSD8 gene that results in lysosomal dysfunction.
  • Currently, there are no approved therapies to treat CLN7 disease, which impacts an estimated 4,000 patients globally.

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 FDA Fast Track Designation to PLX-200 for the Treatment of Patients With Juvenile Neuronal Ceroid Lipofuscinosis

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Thursday, August 20, 2020
Lipid storage disorders, Rare diseases, Health, Clinical medicine, Branches of biology, CLN3, Neuronal ceroid lipofuscinosis, CLN, PLX, NCL, Lysosomal storage disease, Fast track

PARAMUS, N.J., Aug. 20, 2020 /PRNewswire/ --Polaryx Therapeutics Inc., a biotech company developing small molecule therapeutics for lysosomal storage disorders, announced today that the U.S. Food and Drug Administration (FDA) has granted Fast Track Designation to PLX-200 for the treatment of Juvenile Neuronal Ceroid Lipofuscinosis (JNCL/CLN3) patients.

Key Points: 
  • PARAMUS, N.J., Aug. 20, 2020 /PRNewswire/ --Polaryx Therapeutics Inc., a biotech company developing small molecule therapeutics for lysosomal storage disorders, announced today that the U.S. Food and Drug Administration (FDA) has granted Fast Track Designation to PLX-200 for the treatment of Juvenile Neuronal Ceroid Lipofuscinosis (JNCL/CLN3) patients.
  • It is the most prevalent among the NCL (neuronal ceroid lipofuscinosis) diseases and occurs in 3 out of 100,000 births.
  • "We are very excited about the FDA Fast Track Designation to PLX-200 for CLN3 treatment.
  • This Fast Track Designation will expedite PLX-200 development process for the treatment of CLN3 patientswith morefrequent accesses to the FDA.

Polaryx Therapeutics Receives IND Approval From the FDA to Study PLX-200 Treatment for Patients With Juvenile Neuronal Ceroid Lipofuscinosis

Retrieved on: 
Wednesday, April 8, 2020
Health, Lipid storage disorders, Rare diseases, Medicine, Branches of biology, Neuronal ceroid lipofuscinosis, CLN3, CLN, Lysosomal storage disease, Investigational New Drug, Batten disease

PARAMUS, N.J., April 8, 2020 /PRNewswire/ -- Polaryx Therapeutics, a biotech company developing patient-friendly, small molecule therapeutics for lysosomal storage disorders, announced today that the Company has received an Investigational New Drug Application (IND) approval from the U.S. Food and Drug Administration (FDA) to study PLX-200 treatment on Juvenile Neuronal Ceroid Lipofuscinosis (JNCL or CLN3) patients.

Key Points: 
  • PARAMUS, N.J., April 8, 2020 /PRNewswire/ -- Polaryx Therapeutics, a biotech company developing patient-friendly, small molecule therapeutics for lysosomal storage disorders, announced today that the Company has received an Investigational New Drug Application (IND) approval from the U.S. Food and Drug Administration (FDA) to study PLX-200 treatment on Juvenile Neuronal Ceroid Lipofuscinosis (JNCL or CLN3) patients.
  • "We are very excited about our CLN3 IND approval from the FDA, as we can go ahead with CLN3 clinical studies with PLX-200.
  • Polaryx Therapeutics, Inc is dedicated to developing drug candidates for lysosomal storage disorders, for which there is currently no safe and patient-friendly treatment option available.
  • Polaryx is repurposing existing safe oral medications and/or developing new drugs, so that the treatment is patient-friendly for a prolonged use.

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.

Global Batten Community Unites To Launch Inaugural International Batten Disease (NCL) Awareness Day

Retrieved on: 
Saturday, June 9, 2018
Lipid storage disorders, Rare diseases, Medicine, Health, Batten disease, Neuronal ceroid lipofuscinosis, Nervous system, Batten, Neurodegeneration, Jansky–Bielschowsky disease, CLN3

Global Campaign Leverages Social Media to Build Awareness of Rare, Fatal Childhood Disease

Key Points: 
  • Global Campaign Leverages Social Media to Build Awareness of Rare, Fatal Childhood Disease
    COLUMBUS, Ohio, June 9, 2018 /PRNewswire/ --Today marks the inaugural International Batten Disease Awareness Day.Themed "Come Together," this important milestone aims to leverage the global reach of social media to unite members of the Batten disease community, while building awareness of this disease and the need for research.
  • Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), is an inherited disorder of the nervous system that typically begins in childhood.
  • However, by bringing the international community together, we hope to raise awareness of this devastating disease which translates to earlier diagnosis and intervention," said Margie Frazier, Executive Director, Batten Disease Support and Research Association.
  • The Batten Disease Family Association (BDFA) is a national charity which aims to support families, raise awareness and facilitate research into the group of devastating neurodegenerative diseases commonly known as Batten disease across the UK.