Friedreich's ataxia

Lexeo Therapeutics Announces License Agreement to Accelerate Development of LX2006 for the Treatment of Friedreich Ataxia Cardiomyopathy

Retrieved on: 
Monday, April 22, 2024
FDA, Weill Cornell Medicine, Patient, Fast Track, Phenotype, Death, Cardiomyopathy, Research, Natural history, IND, Cornell University, Senior, Friedreich's ataxia, Cardiovascular disease, Therapy, Orphan drug, Pharmaceutical industry

NEW YORK, April 22, 2024 (GLOBE NEWSWIRE) -- Lexeo Therapeutics, Inc. (Nasdaq: LXEO), a clinical stage genetic medicine company, today announced an in-license agreement with Cornell University to expedite development of the investigational gene therapy candidate LX2006 for the treatment of Friedreich ataxia (FA) cardiomyopathy.

Key Points: 
  • Under the license agreement, Lexeo has acquired certain rights1 including rights to current and future data generated in an ongoing investigator-initiated Phase 1A trial of AAVrh.10hFXN to treat FA cardiomyopathy ( NCT05302271 ).
  • The agreement will support Lexeo’s efforts to develop a potentially life-changing therapy for this unmet need.
  • Lexeo previously licensed know-how relating to AAVrh.10hFXN from Weill Cornell Medicine and collaborated with researchers there to further study the candidate, which Lexeo refers to as LX2006.
  • “This agreement with Lexeo Therapeutics builds upon years of collaboration between Weill Cornell Medicine and Lexeo to benefit patients with FA cardiomyopathy.

Muscular Dystrophy Association and Friedreich’s Ataxia Research Alliance Announce Collaborative Research Grant Using Novel Gene Editing Technology to Address Root Cause of Friedreich’s Ataxia Disease

Retrieved on: 
Wednesday, April 17, 2024
Pillar, Enzyme, Friedreich's ataxia, Gene editing, CRISPR, GAA, Hope, Muscular dystrophy, Ataxia, FXN, MDA, Diabetes, FARA, Muscular Dystrophy Association, Column, RNA, Doctor of Philosophy, Research, Scoliosis, Parent, Schnucks, University of Massachusetts, Disease, Therapy, Biomedical Research, Nikolaus Friedreich, Fatigue, Movement, FA, Art, Genome, Organization, Pharmaceutical industry

This funding will further research into using novel genetic technologies to treat Friedreich’s ataxia (FA).

Key Points: 
  • This funding will further research into using novel genetic technologies to treat Friedreich’s ataxia (FA).
  • The grant, Paired Prime Editors to treat Friedreich’s Ataxia, involves prime editing (PE), a next-generation CRISPR gene editing tool that can precisely target the removal of the GAA expansions in the frataxin (FXN) gene.
  • “Our team of investigators is excited to bring multi-disciplinary expertise to the unique challenges of developing PE for FA.
  • This treatment method being targeted – prime editing – aims to directly address the cause of the disease, which is the GAA expansion in the FXN gene.

National Organization for Rare Disorders (NORD) Announces 2024 Rare Impact Award Honorees, Emmy Award-Winning Journalist, Peter Alexander to Host

Retrieved on: 
Monday, April 22, 2024
Education, FDA, Haemophilia, Risk, Genetics, Policy, Legislation, Louisiana House of Representatives, Diagnosis, Community, Enzyme replacement therapy, DSM-IV codes, Universal Pictures, Usher syndrome, NBC News, Primary immunodeficiency, Metabolic disorder, Therapy, Abbey, Coagulopathy, IgA nephropathy, Hospital, Rare disease, BioMarin Pharmaceutical, Proteinuria, Alpha-mannosidosis, Regeneron Pharmaceuticals, House, Immunoglobulin A, Medicine, Biogen, Universal Studios Hollywood, HFSC, PDT, APDS, Friedreich's ataxia, Disease, Science, Patient, Caregiver, Representative, Activated, Pharmaceutical industry

"Through science and advocacy, they are transforming the lives of those impacted by rare diseases, paving the way for new possibilities in treatment and care."

Key Points: 
  • "Through science and advocacy, they are transforming the lives of those impacted by rare diseases, paving the way for new possibilities in treatment and care."
  • "Having witnessed my sister's journey, I know the challenges rare disease families face are not just physical but also emotional, mental, and financial.
  • In addition to the individual award recipients, the Rare Impact Awards are also honoring companies that have developed treatments changing the lives of those with rare diseases.
  • Regeneron Pharmaceuticals for Veopoz™: The first and only treatment indicated specifically for CHAPLE disease, a rare hereditary immune disease.

Stealth BioTherapeutics Presents Data of Novel Compound, SBT-589, in Friedreich's Ataxia Cardiac Models at the Wellcome Trust Mitochondrial Medicine Conference

Retrieved on: 
Tuesday, March 19, 2024
Discovery, Friedreich's ataxia, Death, Hypertrophy, Conditional sentence, Conference, Disease, Mitochondrion, The Company, Mouse, Mortality, Cardiomyopathy, Senior, Heart failure, Mitochondrial disease, Pathology, Stealth, Pharmaceutical industry

NEEDHAM, Mass., March 19, 2024 /PRNewswire/ -- Stealth BioTherapeutics Inc. (the "Company" or "Stealth"), a clinical-stage biotechnology company focused on the discovery, development, and commercialization of novel therapies for diseases involving mitochondrial dysfunction, announced today the presentation of new SBT-589 data demonstrating cardioprotective effects across pre-clinical models of Friedreich's ataxia (FA). The data were presented at the Wellcome Trust Conference on Mitochondrial Medicine – Therapeutic Development, held March 18-20, 2024, in Cambridge, England.

Key Points: 
  • The data were presented at the Wellcome Trust Conference on Mitochondrial Medicine – Therapeutic Development, held March 18-20, 2024, in Cambridge, England.
  • SBT-589 is a promising novel molecule that acts on mitochondrial pathways essential for cellular health and energy production that are impaired in FA cardiomyopathy.
  • "Mitigating heart disease in FA is central to Stealth's ongoing efforts to improve the lives of individuals with FA.
  • The data were presented by Dr. Laura E. Kropp, Senior Manager of Discovery Biology at Stealth, and recipient of the Keith Michael Andrus Cardiac Award from the Friedreich's Ataxia Research Alliance.

Larimar Therapeutics Announces the Dosing of the First Patient in Long-term Open Label Extension Study for Nomlabofusp in Patients with Friedreich’s Ataxia

Retrieved on: 
Monday, March 11, 2024
Pharmacology, Friedreich's ataxia, FDA, BLA, Ataxia, Mitochondrion, Safety, Therapy, Pharmacokinetics, Patient, OLE, FA, Gene expression, Pharmaceutical industry

Nomlabofusp (CTI-1601) is a novel protein replacement therapy designed to address the root cause of Friedreich's ataxia (FA) by delivering frataxin to mitochondria.

Key Points: 
  • Nomlabofusp (CTI-1601) is a novel protein replacement therapy designed to address the root cause of Friedreich's ataxia (FA) by delivering frataxin to mitochondria.
  • “We are pleased to dose the first patient in our OLE study, further advancing the nomlabofusp clinical program and building on the successful completion of our Phase 2 dose escalation study.
  • Based on our Phase 1 and Phase 2 findings, we expect to continue daily dosing throughout the study,” said Carole Ben-Maimon, MD, President, and Chief Executive Officer of Larimar.
  • Initial data from the OLE study is expected in Q4 2024.

Rgenta Therapeutics to Present at the 19th Annual Huntington's Disease Therapeutics Conference

Retrieved on: 
Wednesday, February 21, 2024
Traffic barrier, MLH1, PMS2, Huntington's disease, GWAS, FXS, Conference, DM1, MSH3, PMS1, RNA, Therapy, FAN1, Gene, FRDA, CSO, Fragile X syndrome, Friedreich's ataxia, DNA, Vaccine

CAMBRIDGE, Mass., Feb. 21, 2024 /PRNewswire/ -- Rgenta Therapeutics ("Rgenta" or the "Company") today announced it will participate at the 19th Annual Huntington's Disease Therapeutics Conference being held February 26-29, 2024, in Palm Springs, California.

Key Points: 
  • CAMBRIDGE, Mass., Feb. 21, 2024 /PRNewswire/ -- Rgenta Therapeutics ("Rgenta" or the "Company") today announced it will participate at the 19th Annual Huntington's Disease Therapeutics Conference being held February 26-29, 2024, in Palm Springs, California.
  • As part of the annual conference, Travis Wager, Ph.D., President & CSO of Rgenta will participate in the Targeting the DNA repair machinery to modulate somatic instability session on Tuesday, February 27, 2024 at 2:00 PM PT.
  • To date, there has been a lack of successful strategies for directly targeting the PMS1 protein with small molecule inhibitors.
  • For more information about the event, please visit the conference website .

PTC Therapeutics Provides an Update on Commercial Progress and R&D Pipeline at 42nd Annual J.P. Morgan Healthcare Conference

Retrieved on: 
Monday, January 8, 2024
Nikolaus Friedreich, Regulation, Conference, Eladocagene exuparvovec, Economics, PTC, EMA, FDA, MAA, Friedreich's ataxia, Duchenne muscular dystrophy, FA, NDA, Deflazacort, Prescription, HD, Civil service commission, Therapy, Bank statement, PTC Therapeutics, Cardinal, DMD, PKU, European, Duchenne, AADC, Patient, ALS, GAAP, CHMP, BLA, Pharmaceutical industry

SOUTH PLAINFIELD, N.J., Jan. 8, 2024 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT) will present an update on its commercial progress and R&D pipeline at the 42nd Annual J.P. Morgan Healthcare Conference today, Monday, January 8, at 10:30am EST/7:30am PST. Matthew B. Klein, M.D., Chief Executive Officer of PTC Therapeutics, will provide an update on 2023 accomplishments and highlight potential 2024 value-creating milestones. Preliminary 2023 unaudited financial results and 2024 financial guidance will also be provided. The presentation is being webcast live on the Events and Presentations page of the Investors section of PTC Therapeutics website at www.ptcbio.com.

Key Points: 
  • Matthew B. Klein, M.D., Chief Executive Officer of PTC Therapeutics, will provide an update on 2023 accomplishments and highlight potential 2024 value-creating milestones.
  • The presentation is being webcast live on the Events and Presentations page of the Investors section of PTC Therapeutics website at www.ptcbio.com .
  • PTC announced strategic portfolio prioritizations, which resulted in reductions in both operating expenses and headcount of approximately 25% and 30%, respectively.
  • PTC maintains all economics associated with up to $250 million in the remaining commercial sales milestones associated with Evrysdi global net sales.

Human medicines European public assessment report (EPAR): Skyclarys, Omaveloxolone, Status: Opinion

Retrieved on: 
Tuesday, January 2, 2024
Medical Subject Headings, Marketing, ALT, Diarrhea, Spasm, Ataxia, European Commission, INN, ATC, Nuclear, EMA, International, Vomiting, Headache, Fatigue, FA, Nausea, Ageing, Civil service commission, Friedreich's ataxia, Appetite, Medication package insert, Back pain, Oxidative stress, Applicant (sketch), Committee, Patient, Medicine, CHMP

The active substance of Skyclarys is omaveloxolone (ATC code: not yet assigned).

Key Points: 
  • The active substance of Skyclarys is omaveloxolone (ATC code: not yet assigned).
  • Omaveloxolone activates the Nuclear factor (erythroid-derived 2)-like 2 (Nrf2) pathway which is involved in the cellular response to oxidative stress.
  • The full indication is:
    Skyclarys is indicated for the treatment of Friedreich’s ataxia in adults and adolescents aged 16 years and older.
  • Detailed recommendations for the use of this product will be described in the summary of product characteristics (SmPC), which will be published in the European public assessment report (EPAR) and made available in all official European Union languages after the marketing authorisation has been granted by the European Commission.

Larimar Therapeutics Reports Third Quarter 2023 Operating and Financial Results

Retrieved on: 
Tuesday, November 14, 2023
Research, Safety, Therapy, IP, INN, International, Frataxin, Friedreich's ataxia, Clinical trial, Insurance, Patient, OLE, FDA, FA, Pharmacokinetics, Gene expression, Caregiver, Ataxia, CMO, USAN, Skin, Horizon, Amgen, Pharmaceutical industry, Cryptocurrency, Larimar, MD

“For the OLE trial, initiation remains on track for the first quarter of 2024, and we expect to report interim data later that year in the fourth quarter.

Key Points: 
  • “For the OLE trial, initiation remains on track for the first quarter of 2024, and we expect to report interim data later that year in the fourth quarter.
  • Research and development expenses for the third quarter of 2023 were $6.6 million compared to $5.6 million for the third quarter of 2022.
  • General and administrative expenses for the third quarter of 2023 were $3.8 million compared to $2.9 million for the third quarter of 2022.
  • Other income (expense), net was $1.3 million of income in the third quarter of 2023 compared to $0.2 million in the third quarter of 2022.

Design Therapeutics Reports Third Quarter 2023 Financial Results and Plans for a Comprehensive Portfolio Update in Early 2024

Retrieved on: 
Monday, November 13, 2023
Friedreich's ataxia, Strategic management, Behavior, D, Therapy, Disease, Design, Biotechnology, History, Patient, Research, Excipient, FA, G&A, Messenger, Genome, Fuchs, R, Growth, Outline, Pharmaceutical industry

CARLSBAD, Calif., Nov. 13, 2023 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc. (Nasdaq: DSGN), a biotechnology company developing treatments for serious degenerative genetic diseases, today reported third quarter 2023 financial results. A strategic realignment was initiated to prioritize long-term growth, focus capital resources on program spend and implement cost savings. As a result, Design now expects its cash, cash equivalents and marketable securities to fund its planned operating expenses through at least the next five years. Additionally, Design announced plans to provide an update on its corporate strategy and priorities, and outline anticipated milestones across its business and clinical- and research-stage pipeline of novel GeneTAC™ small molecules in early 2024.

Key Points: 
  • A strategic realignment was initiated to prioritize long-term growth, focus capital resources on program spend and implement cost savings.
  • As a result, Design now expects its cash, cash equivalents and marketable securities to fund its planned operating expenses through at least the next five years.
  • Additionally, Design announced plans to provide an update on its corporate strategy and priorities, and outline anticipated milestones across its business and clinical- and research-stage pipeline of novel GeneTAC™ small molecules in early 2024.
  • We look forward to sharing more on our near- and long-term strategic priorities as part of a comprehensive update in early 2024.