Lipid storage disorders

Amicus Therapeutics Announces European Commission Approval of Galafold® (migalastat) for Adolescents with Fabry Disease

Retrieved on: 
Monday, August 2, 2021

This expanded approval is a significant step forward for the Fabry community, as we work towards increasing awareness of this rare disease in young people.

Key Points: 
  • This expanded approval is a significant step forward for the Fabry community, as we work towards increasing awareness of this rare disease in young people.
  • Progressive accumulation of GL-3 is believed to lead to the morbidity and mortality of Fabry disease, including pain, kidney failure, heart disease, and stroke.
  • Treatment with Galafold should be initiated and supervised by specialists experienced in the diagnosis and treatment of Fabry disease.
  • Galafold is not recommended for use in patients with Fabry disease who have severe renal impairment (

GC Pharma and Tottori University Enter Research Collaboration and License Agreement for Development of GM1 Gangliosidosis Chaperone Therapy

Retrieved on: 
Monday, August 2, 2021

GC Pharma (006280.KS) and Tottori University today announced a worldwide licensing and collaboration agreement for the orally administrable chaperone drug of GM1 gangliosidosis (GM1).

Key Points: 
  • GC Pharma (006280.KS) and Tottori University today announced a worldwide licensing and collaboration agreement for the orally administrable chaperone drug of GM1 gangliosidosis (GM1).
  • Under the terms of the agreement, GC Pharma has obtained the exclusive right to develop and commercialize worldwide.
  • Tottori University is dedicated to contribute the international research collaboration with GC Pharma to develop and deliver an innovative chaperone therapy for patients with this devastating neurodegenerative disease.
  • Katsumi Higaki, Ph.D., head of GM1 research at Tottori University, has been working on the chaperone therapy related to orphan disorders for more than 20 years.

LEXEO Therapeutics Receives Rare Pediatric Disease Designation and Orphan Drug Designation for LX1004 for the Treatment of CLN2 Batten Disease

Retrieved on: 
Wednesday, July 28, 2021

Both designations granted to LX1004 underscore the critical importance and urgency to advance new treatment approaches for CLN2 Batten disease, a fatal genetic disorder affecting the central nervous system (CNS), said R. Nolan Townsend, Chief Executive Officer of LEXEO Therapeutics.

Key Points: 
  • Both designations granted to LX1004 underscore the critical importance and urgency to advance new treatment approaches for CLN2 Batten disease, a fatal genetic disorder affecting the central nervous system (CNS), said R. Nolan Townsend, Chief Executive Officer of LEXEO Therapeutics.
  • The FDA grants Rare Pediatric Disease designation for serious and life-threateningdiseases that primarily affect children ages 18 years or younger and fewer than 200,000 people in the U.S.
  • CLN2 Batten disease is an autosomal recessive lysosomal storage disease with approximately 1,000 cases worldwide.
  • LEXEOs current pipeline consists of adeno-associated virus (AAV)-mediated gene therapies in rare cardiac diseases, CLN2 Batten disease, and APOE4-associated Alzheimers disease.

Lysogene Announces FDA Fast Track Designation for LYS-GM101 Gene Therapy for the Treatment of GM1 Gangliosidosis

Retrieved on: 
Thursday, July 8, 2021

GM1 gangliosidosis is a fatal autosomal recessive disease caused by mutations in the GLB1 gene leading to accumulation of GM1 ganglioside in neurons resulting in progressive neurodegeneration.

Key Points: 
  • GM1 gangliosidosis is a fatal autosomal recessive disease caused by mutations in the GLB1 gene leading to accumulation of GM1 ganglioside in neurons resulting in progressive neurodegeneration.
  • A product that receives Fast Track designation is eligible for more frequent interactions with FDA, potential eligibility for accelerated approval, priority review, and rolling Biologics License Application (BLA) review.
  • This Fast Track designation demonstrates the regulators sustained interest in Lysogenes cutting edge gene therapy program.
  • Lysogene is a gene therapy Company focused on the treatment of orphan diseases of the central nervous system (CNS).

Exicure Announces Upcoming Neuroscience Pipeline Update at Virtual R&D Day

Retrieved on: 
Thursday, July 8, 2021

The event will showcase Exicures neuroscience pipeline, including its lead program for Friedreichs Ataxia (FA), XCUR-FXN, which is designed to address the underlying molecular cause of FA.

Key Points: 
  • The event will showcase Exicures neuroscience pipeline, including its lead program for Friedreichs Ataxia (FA), XCUR-FXN, which is designed to address the underlying molecular cause of FA.
  • Exicure will present new and previously unreleased preclinical data and discuss progress with XCUR-FXN, which is on track for IND filing in late Q4 2021.
  • Additionally, Exicure will discuss its perspective on XCUR-FXNs competitive differentiation in FA and the programs path to clinical validation.
  • Also, Exicure will provide an update on its expanding pipeline across several rare neurodegenerative diseases of high unmet need and highlight progress with two preclinical programs targeting SCN9A (Nav1.7) for neuropathic pain and CLN3 for Batten Disease.

Mandos, LLC Completes Acquisition of Adrabetadex from Mallinckrodt Pharmaceuticals

Retrieved on: 
Thursday, July 1, 2021

Following approval from the United States Bankruptcy Court for the District of Delaware, Mandos, LLC (Mandos) today announced it has closed the acquisition of Adrabetadex (also known as VTS-270), a drug in development for the treatment of Niemann-Pick Type C1 disease (NPC1), from Vtesse LLC, a wholly owned subsidiary of Mallinckrodt Pharmaceuticals (Mallinckrodt), a global biopharmaceutical company.

Key Points: 
  • Following approval from the United States Bankruptcy Court for the District of Delaware, Mandos, LLC (Mandos) today announced it has closed the acquisition of Adrabetadex (also known as VTS-270), a drug in development for the treatment of Niemann-Pick Type C1 disease (NPC1), from Vtesse LLC, a wholly owned subsidiary of Mallinckrodt Pharmaceuticals (Mallinckrodt), a global biopharmaceutical company.
  • This leads to the abnormal accumulation of these substances within various tissues of the body, including brain, liver, spleen and lung tissue.
  • As the disease progresses, NPC1 can lead to loss of cognition, speech, the ability to swallow, mobility and eventually death.
  • Over the coming days and weeks, Mandos will work diligently with Mallinckrodt to complete the transfer of drug sponsor obligations from Mallinckrodt to Mandos.

Bioasis Technologies Inc. and Oxyrane UK Ltd. enter into a Research Collaboration

Retrieved on: 
Wednesday, June 30, 2021

The delivery of therapeutics across the blood brain barrier represents the final frontier in treating neurological disorders.

Key Points: 
  • The delivery of therapeutics across the blood brain barrier represents the final frontier in treating neurological disorders.
  • The in-house development programs at Bioasis are designed to develop symptomatic and disease-modifying treatments for brain-related diseases and disorders.
  • On behalf of the Board of Directors of Oxyrane UK Ltd.
    Oxyrane is a venture funded, pre-clinical stage biotech company dedicated to developing Enzyme Replacement Therapies (ERTs) for Lysosomal Storage Diseases.
  • Oxyranes lead program is an Enzyme Replacement Therapy for Gaucher Disease that has demonstrated superior phamacodynamic effects in disease animal models.

CytRx Comments on Orphazyme’s Promising 24-Month Interim Trial Results of Arimoclomol for Niemann-Pick Disease Type C

Retrieved on: 
Wednesday, June 30, 2021

Orphazyme announced 24-month interim results of an OLE trial, providing efficacy and safety data for its investigational treatment arimoclomol in NPC for up to 36 months.

Key Points: 
  • Orphazyme announced 24-month interim results of an OLE trial, providing efficacy and safety data for its investigational treatment arimoclomol in NPC for up to 36 months.
  • Orphazyme is developing arimoclomol in Niemann-Pick disease Type C ("NPC") and Gaucher disease.
  • Arimoclomol, the companys lead candidate, is in clinical development in Niemann-Pick disease Type C and Gaucher disease.
  • Niemann-Pick disease type C (NPC) is a rare, genetic, progressively debilitating, and often fatal neurovisceral disease.

Azafaros Appoints Stefano Portolano, M.D., as Chief Executive Officer

Retrieved on: 
Wednesday, June 30, 2021

Azafaros B.V. today announced that Stefano Portolano, M.D., has joined Azafaros as Chief Executive Officer (CEO) and has concurrently been appointed to the Board of Directors of the company.

Key Points: 
  • Azafaros B.V. today announced that Stefano Portolano, M.D., has joined Azafaros as Chief Executive Officer (CEO) and has concurrently been appointed to the Board of Directors of the company.
  • We are very happy to welcome Stefano to Azafaros as the company progresses further into clinical development.
  • "Stefano joins an outstanding team that is rapidly advancing lead candidate AZ-3102, the companys proprietary orally-available azasugar molecule for the treatment of GM1 and GM2 gangliosidoses.
  • Since the companys inception in 2018, Azafaros has made remarkable progress by building a strong and committed organization that has reached the clinic in less than three years, said Stefano Portolano, M.D., Azafaros' Chief Executive Officer.

Orphazyme presents 36-month data supporting durable response to arimoclomol during Parseghian Scientific Conference for NPC Research

Retrieved on: 
Monday, June 28, 2021

The data are featured in a presentation as part of the Parseghian Scientific Conference for Niemann-Pick disease type C Research.

Key Points: 
  • The data are featured in a presentation as part of the Parseghian Scientific Conference for Niemann-Pick disease type C Research.
  • The results demonstrate that arimoclomol provided a sustained benefit to study participants by reducing NPC progression as measured by the 5-domain NPC Clinical Severity Scale (5D-NPCCSS).
  • Orphazyme continue to pursue regulatory approval in Europe and evaluate a path forward for arimoclomol in NPC in the US.
  • On June 17, 2021, Orphazyme received a Complete Response Letter from the FDA regarding its New Drug Application for arimoclomol for the treatment of NPC.