Charcot–Marie–Tooth disease

U.S. Congressman Josh Gottheimer Champions Rare Disease Research With Sponsorship of Legislative Bill - H.Res.1039 - Advocating for Increased Funding for Charcot-Marie-Tooth Disease (CMT)

Retrieved on: 
Tuesday, April 9, 2024
Dental, Public Policy, Government, Healthcare Reform, Philanthropy, Biotechnology, Other Health, Health, General Health, Foundation, Stroke, Brain, NJ-5, Gene, Charcot–Marie–Tooth disease, Disease, Sympathetic nervous system, DSM-IV codes, Research, Hope, Quality of life, Hunting, Tax, Child, Spinal cord, Rare Disease Caucus, Legislation, Disability, ID, Bangladesh Technical Education Board, Hearing, CMT, Pharmaceutical industry

The resolution underscores the urgency of addressing the challenges of individuals diagnosed with Charcot-Marie-Tooth disease (CMT) and the need for robust research funding.

Key Points: 
  • The resolution underscores the urgency of addressing the challenges of individuals diagnosed with Charcot-Marie-Tooth disease (CMT) and the need for robust research funding.
  • “By collaborating with experts and advocates, we can give everyone struggling with Charcot-Marie-Tooth Disease hope.
  • Zaken's dedication reflects the grassroots efforts of young individuals committed to making a difference in the fight against rare diseases.
  • Regrettably, despite its profound impact, federal funding for CMT research witnessed a decrease in 2022 compared to 2021.

NMD Pharma Receives FDA IND Clearance to initiate a Phase 2b Clinical Trial of NMD670 in Generalized Myasthenia Gravis Patients in the US

Retrieved on: 
Friday, March 22, 2024
MuSK protein, Science Translational Medicine, Charcot–Marie–Tooth disease, GMG, Patient, Myasthenia gravis, IND, Spinal muscular atrophy, Acetylcholine receptor, Safety, Muscle weakness, Fatigue, FDA, Food, Pharmaceutical industry

The Phase 2b clinical trial is a dose range-finding, double-blind, placebo-controlled study of NMD670, a twice daily oral muscle-targeted therapy, in gMG patients experiencing persistent symptoms or fluctuating symptoms despite treatment on current standard of care.

Key Points: 
  • The Phase 2b clinical trial is a dose range-finding, double-blind, placebo-controlled study of NMD670, a twice daily oral muscle-targeted therapy, in gMG patients experiencing persistent symptoms or fluctuating symptoms despite treatment on current standard of care.
  • The trial will take place in both US and European clinical sites.
  • Thomas Holm Pedersen, Chief Executive Officer of NMD Pharma, said: “This is an important milestone for NMD Pharma, enabling us to progress our lead development candidate NMD670 into a Phase 2b trial in the US in generalized myasthenia gravis patients with AChR and MuSK positive antibodies.
  • It follows positive Phase 1/2a data which provided proof-of-mechanism and where clinically and statistically significant effects were seen in patients.

NMD Pharma Receives FDA IND Clearance to initiate a Phase 2b Clinical Trial of NMD670 in Generalized Myasthenia Gravis Patients in the US

Retrieved on: 
Friday, March 22, 2024
MuSK protein, Science Translational Medicine, Charcot–Marie–Tooth disease, GMG, Patient, Myasthenia gravis, IND, Spinal muscular atrophy, Acetylcholine receptor, Safety, Muscle weakness, Fatigue, FDA, Food, Pharmaceutical industry

The Phase 2b clinical trial is a dose range-finding, double-blind, placebo-controlled study of NMD670, a twice daily oral muscle-targeted therapy, in gMG patients experiencing persistent symptoms or fluctuating symptoms despite treatment on current standard of care.

Key Points: 
  • The Phase 2b clinical trial is a dose range-finding, double-blind, placebo-controlled study of NMD670, a twice daily oral muscle-targeted therapy, in gMG patients experiencing persistent symptoms or fluctuating symptoms despite treatment on current standard of care.
  • The trial will take place in both US and European clinical sites.
  • Thomas Holm Pedersen, Chief Executive Officer of NMD Pharma, said: “This is an important milestone for NMD Pharma, enabling us to progress our lead development candidate NMD670 into a Phase 2b trial in the US in generalized myasthenia gravis patients with AChR and MuSK positive antibodies.
  • It follows positive Phase 1/2a data which provided proof-of-mechanism and where clinically and statistically significant effects were seen in patients.

NMD Pharma Publishes Comprehensive Data Package for NMD670 in Science Translational Medicine

Retrieved on: 
Thursday, March 21, 2024
MuSK protein, Exercise, Science Translational Medicine, Charcot–Marie–Tooth disease, NMD, Patient, Brain cell, Human, Myasthenia gravis, Spinal muscular atrophy, Acetylcholine receptor, Facial muscles, QMG, Myasthenia, Safety, Aarhus University, Muscle weakness, Fatigue, Paper, Neuromuscular disease, Pharmaceutical industry

NMD Pharma’s lead development candidate, NMD670, a novel, selective, and orally bioavailable ClC-1 inhibiting small molecule, is used in the preclinical and clinical studies.

Key Points: 
  • NMD Pharma’s lead development candidate, NMD670, a novel, selective, and orally bioavailable ClC-1 inhibiting small molecule, is used in the preclinical and clinical studies.
  • NMD670 is a muscle-targeted therapy which aims to enhance the activation of skeletal muscle fibers and to improve muscle strength and endurance.
  • As a result, patients have impaired skeletal muscle function and often experience severe muscle weakness and fatigue.
  • Access the full paper in Science Translational Medicine online here:
    In October 2022, NMD Pharma announced positive topline data which established the first clinical proof-of-mechanism of NMD Pharma’s novel CIC-1 chloride channel inhibitor approach in patients impacted by MG.

NMD Pharma Publishes Comprehensive Data Package for NMD670 in Science Translational Medicine

Retrieved on: 
Thursday, March 21, 2024
MuSK protein, Exercise, Science Translational Medicine, Charcot–Marie–Tooth disease, NMD, Patient, Brain cell, Human, Myasthenia gravis, Spinal muscular atrophy, Acetylcholine receptor, Facial muscles, QMG, Myasthenia, Safety, Aarhus University, Muscle weakness, Fatigue, Paper, Neuromuscular disease, Pharmaceutical industry

NMD Pharma’s lead development candidate, NMD670, a novel, selective, and orally bioavailable ClC-1 inhibiting small molecule, is used in the preclinical and clinical studies.

Key Points: 
  • NMD Pharma’s lead development candidate, NMD670, a novel, selective, and orally bioavailable ClC-1 inhibiting small molecule, is used in the preclinical and clinical studies.
  • NMD670 is a muscle-targeted therapy which aims to enhance the activation of skeletal muscle fibers and to improve muscle strength and endurance.
  • As a result, patients have impaired skeletal muscle function and often experience severe muscle weakness and fatigue.
  • Access the full paper in Science Translational Medicine online here:
    In October 2022, NMD Pharma announced positive topline data which established the first clinical proof-of-mechanism of NMD Pharma’s novel CIC-1 chloride channel inhibitor approach in patients impacted by MG.

ORYZON Reports Financial Results and Corporate Update for Quarter Ended December 31, 2023

Retrieved on: 
Monday, February 26, 2024
Borderline personality disorder, HOPE, HDAC6, National Cancer Institute, EVOLUTION, CMT, Agitation, Data analysis, Convertible bond, ICIS, ALS, SCLC, Azacitidine, Duration, ICI, IIS, Sciatic nerve, Deficit spending, Paclitaxel, DSM-IV codes, Development, Genomics, ALS Association, FMS, LSD1, AML, Clinical Global Impression, MSKCC, Conference, Aggression, Safety, Biomarker, CNS, Venetoclax, CRADA, OHSU, MRD, Clinical trial, BPD, Measure (mathematics), IND, FCCC, Dor, Human, Innovation, EMA, Kabuki syndrome, NET, NCI, Aes, Glomus tumor, FDA, GST, Food, Platinum, Schizophrenia, Phase II, Charcot–Marie–Tooth disease, Medicine, Patient, BEST, Disease, Pharmaceutical industry

Dr Carlos Buesa, Oryzon’s Chief Executive Officer, said: “Oryzon continued with a strong path in its clinical programs in the fourth quarter.

Key Points: 
  • Dr Carlos Buesa, Oryzon’s Chief Executive Officer, said: “Oryzon continued with a strong path in its clinical programs in the fourth quarter.
  • Research and development (R&D) expenses were $3.9 and $16.6 million for the quarter and twelve months ended December 31, 2023, respectively, compared to $5.0 and $18.1 million for the quarter and twelve months ended December 31, 2022.
  • General and administrative expenses were $1.2 and $4.2 million for the quarter and twelve months ended December 31, 2023, respectively, compared to $1.2 and $4.8 million for the quarter and twelve months ended December 31, 2022.
  • Net losses were $1.4 and $5.0 million for the quarter and twelve months ended December 31, 2023, respectively, compared to $1.6 and $5.9 million for the quarter and twelve months ended December 31, 2022.

Curi Bio, Genetox, and DreamCIS Sign MOU for Strategic Collaboration on 3D Neuromuscular Junction Model for Botox Potency Assay

Retrieved on: 
Thursday, February 22, 2024
Biotechnology, Health, Genetics, Stem Cells, Pharmaceutical, Korean, Therapy, Bangladesh Technical Education Board, ALS, Multimedia, Small business, NIH, FDA, US FDA, Food, Sale, Drug discovery, Small Business Innovation Research, Quality control, Charcot–Marie–Tooth disease, University, Chronic pain, CMT, Neuromuscular junction, Patient, NCATS, MOU, NMJ, Partnership, Pharmaceutical industry

View the full release here: https://www.businesswire.com/news/home/20240222795787/en/

Key Points: 
  • View the full release here: https://www.businesswire.com/news/home/20240222795787/en/
    Curi Bio, Genetox, and DreamCIS Sign MOU for Strategic Collaboration on 3D Neuromuscular Junction Model for Botox Potency Assay (Photo: Business Wire)
    BoT is renowned for its therapeutic applications, including the treatment of chronic pain, autonomic disorders, congenital neuromuscular conditions, and cosmetic enhancements.
  • The project has supported Curi Bio’s development of a next-generation 3D human neuromuscular junction model used for disease modeling, for pharmaceutical and cosmetics potency assays, and for testing broad pathogenicity.
  • The project will deliver a functional potency assay for botox research and manufacture in a turnkey, scalable format.
  • With this MOU, Genetox shows its commitment to making Curi Bio’s NMJ-based potency assay a key part of BOTAONE’s manufacturing, quality control, and product release processes.

Orphan designation: Govorestat Treatment of Charcot-Marie-Tooth disease, 22/05/2022 Positive

Retrieved on: 
Sunday, February 4, 2024
COMP, IRIS, European Commission, Committee, Patient, Charcot–Marie–Tooth disease, EMA, Pharmaceutical industry

Key facts

Key Points: 
  • Key facts
    - Active substance
    - Govorestat
    - Intended use
    - Treatment of Charcot-Marie-Tooth disease
    - Orphan designation status
    - Positive
    - EU designation number
    - EU/3/23/2783
    - Date of designation
    - Sponsor
    Veristat Spain S.L.
  • Patients' organisations
    For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
    European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
  • EU register of orphan medicines
    The list of medicines that have received an orphan designation in the EU is available on the European Commission's website:
    EMA list of opinions on orphan medicinal product designation
    EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:

NMD Pharma Appoints Morten Bull as SVP, General Counsel and Head of People & Business Services

Retrieved on: 
Monday, January 22, 2024
Senior, Patient, General counsel, IP, Corporate services, NMD, Culture, Spinal muscular atrophy, TDC, M&A, Law, IPO, Myasthenia gravis, Charcot–Marie–Tooth disease, Leo Pharma, SVP, Pharmaceutical industry

NMD Pharma Appoints Morten Bull as SVP, General Counsel and Head of People & Business Services

Key Points: 
  • NMD Pharma Appoints Morten Bull as SVP, General Counsel and Head of People & Business Services
    Aarhus, Denmark, 22 January 2024 – NMD Pharma A/S, a clinical-stage biotech dedicated to developing novel and improved treatments for patients living with neuromuscular diseases, announces the appointment of Morten Bull as Senior Vice President, General Counsel and Head of People & Business Services with effect from 1 January 2024.
  • He has been working with NMD Pharma since June 2023 as General Counsel on a consultancy basis prior to this appointment.
  • Before joining NMD Pharma, Morten was Executive Director and Global Head of IP and R&D Legal of LEO Pharma, where he was part of the Legal and R&D leadership teams and business partner to the M&A group.
  • Morten Bull, newly appointed SVP, General Counsel and Head of People & Business Services at NMD Pharma, said: “I have been working closely with NMD Pharma since June 2023 and am very pleased to now be joining the Company on a fulltime basis as SVP, General Counsel and Head of People & Business Services.

Vanda Pharmaceuticals Receives FDA Approval to Proceed with Investigational New Drug VCA-894A, a Novel Antisense Oligonucleotide Candidate for the Treatment of Charcot-Marie-Tooth Disease, Type 2S

Retrieved on: 
Tuesday, January 23, 2024
Patient, Life, Peripheral neuropathy, NMD, CMT, Genetics, Medicine, IND, Food, Journal, Journal of Biological Chemistry, Central nervous system, FDA, Vanda, Investigational New Drug, Atrophy, Neuromuscular disease, Charcot–Marie–Tooth disease, Asos, Gene expression, Prevalence

CMT2S is a rare subtype of Charcot-Marie-Tooth disease (CMT), an inherited peripheral neuropathy for which there is no available treatment.

Key Points: 
  • CMT2S is a rare subtype of Charcot-Marie-Tooth disease (CMT), an inherited peripheral neuropathy for which there is no available treatment.
  • VCA-894A is a novel antisense oligonucleotide (ASO) with a mechanism of action that specifically targets a cryptic splice site variant within immunoglobulin mu-binding protein 2 (IGHMBP2).
  • Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
  • https://doi.org/10.1016/j.nmd.2021.08.001
    Crooke, S. T., Liang, X. H., Baker, B. F., & Crooke, R. M. (2021).