Rare diseases

Major shareholder announcement

Retrieved on: 
Wednesday, June 23, 2021
Branches of biology, Biology, Lipid storage disorders, Rare diseases, Protein folding, Neurological disorders, Neurodegenerative disorders, Heat shock response, Niemann–Pick disease, type C, Heat shock protein, Niemann–Pick disease, Arimoclomol

Orphazyme is a late-stage biopharmaceutical company pioneering the heat shock protein response for the treatment of rare diseases.

Key Points: 
  • Orphazyme is a late-stage biopharmaceutical company pioneering the heat shock protein response for the treatment of rare diseases.
  • The company is harnessing amplification of heat shock proteins (or HSPs) in order to develop and commercialize novel therapeutics for diseases caused by protein misfolding, protein aggregation, and lysosomal dysfunction.
  • Arimoclomol, the companys lead candidate, is in clinical development for rare diseases including Niemann-Pick disease type C (NPC) and Gaucher disease.
  • Orphazyme is headquartered in Denmark and has operations in the U.S. and Switzerland.

Fulcrum Therapeutics Announces Multiple Presentations at the 28th Annual FSHD Society International Research Congress (IRC)

Retrieved on: 
Monday, June 21, 2021
Branches of biology, Rare diseases, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Anatomy, Genes, DUX4, Skeletal muscle

FSHD is a serious, rare, progressive and disabling disease for which there are no approved treatments.

Key Points: 
  • FSHD is a serious, rare, progressive and disabling disease for which there are no approved treatments.
  • FSHD is characterized by muscle degeneration and fat infiltration, initially affecting movement of the face and eventually the arms, trunk and legs.
  • Disease progression results in accumulation of disability, with many patients ultimately becoming dependent upon the use of a wheelchair for daily mobility.
  • FSHD is caused by mis-expression of DUX4 in skeletal muscle, resulting in the presence of DUX4 proteins that are toxic to muscle tissue.

Grace Science Receives U.S. FDA Orphan Drug Designation for GS-100, an AAV9 Gene Therapy for NGLY1 Deficiency

Retrieved on: 
Tuesday, June 22, 2021
Biotechnology, Pharmaceutical, Health, FDA, Children, Genetics, Consumer, Clinical trials, Branches of biology, Biology, Rare diseases, Congenital disorders of glycosylation, Life sciences, NGLY1 deficiency, NGLY1, Biotechnology, Gene therapy

Grace Science, LLC announced today that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to GS-100, an investigational AAV9 gene replacement therapy for the treatment of NGLY1 deficiency.

Key Points: 
  • Grace Science, LLC announced today that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to GS-100, an investigational AAV9 gene replacement therapy for the treatment of NGLY1 deficiency.
  • NGLY1 deficiency is an ultra-rare genetic disease caused by loss of function mutations in the NGLY1 gene.
  • Matt Wilsey, founder and CEO of Grace Science stated: We are pleased the FDA has granted orphan drug designation to our gene therapy program for NGLY1 deficiency.
  • Grace Science recently closed its Series A financing, which will fund the advancement of GS-100 into a first-in-human clinical trial for NGLY1 deficiency.

Taysha Gene Therapies Announces Publication of Natural History Data for TSHA-120 in Giant Axonal Neuropathy in the Journal, Brain

Retrieved on: 
Monday, June 21, 2021
Health, Genetics, Rare diseases, Organ systems, Neurological disorders, Scoliosis, Branches of biology

The data were published online and will be included in the June edition of Brain, a highly esteemed neurological science peer-reviewed journal.

Key Points: 
  • The data were published online and will be included in the June edition of Brain, a highly esteemed neurological science peer-reviewed journal.
  • Symptoms worsen over time and children develop scoliosis, contractures, atrophy of the spinal cord and abnormalities of the white matter in the brain.
  • Currently, there are no approved treatments for GAN, which results in death for patients in their late teens or early twenties.
  • In this natural history study, 45 patients, age 3 years to 21 years old, with genetically confirmed GAN were enrolled at NIH and evaluated at their first enrollment visit.

Teva Presents New Data at 7th European Academy of Neurology Congress Suggesting Socio-Economic Factors May Contribute to the Significant Under-Diagnosis of Migraine

Retrieved on: 
Monday, June 21, 2021
Biotechnology, Pharmaceutical, Health, Clinical trials, Migraine, Headaches, Branches of biology, Nervous system, Medicine, Neurological disorders, Channelopathies, Rare diseases, Migraine-associated vertigo, Messoud Ashina, the Epidemiological Study, the ‘Beyond Migraine: The Real You survey, Teva, THE EPIDEMIOLOGICAL STUDY, THE ‘BEYOND MIGRAINE: THE REAL YOU SURVEY, TEVA

A retrospective study of migraine epidemiology in Southern Israel, supported by Teva and presented at the virtual 7th Congress of the European Academy of Neurology (EAN), found extreme variability in the prevalence of diagnosed patients with migraine across the geographic area studied.

Key Points: 
  • A retrospective study of migraine epidemiology in Southern Israel, supported by Teva and presented at the virtual 7th Congress of the European Academy of Neurology (EAN), found extreme variability in the prevalence of diagnosed patients with migraine across the geographic area studied.
  • Migraine is a difficult, challenging neurological disease which does not discriminate dependent on an individuals social status.
  • We believe migraine should be prioritised as a highly prevalent and often under-looked neurological disorder.
  • A 2020 Teva-sponsored research project, Beyond Migraine: The Real You, surveyed over 7,500 people living with the disease in 10 European countries.

CorEvitas and The Guthy-Jackson Charitable Foundation Announce First Patient Enrollment in the SPHERES Registry: a New Research Study to Improve Outcomes for NMOSD Patients

Retrieved on: 
Tuesday, June 22, 2021
Autoimmune diseases, Rare diseases, Medical specialties, Neuromyelitis optica spectrum disorder, Neuroscience, Branches of biology, Relapse

and BEVERLY HILLS, Calif., June 22, 2021 /PRNewswire/ -- CorEvitas, LLC and The Guthy-Jackson Charitable Foundation (GJCF) announce first patient enrollment in the SPHERES (Synergy of Prospective Health & Experimental Research for Emerging Solutions in NMOSD) Registry for Neuromyelitis Optica Spectrum Disorder (NMOSD).

Key Points: 
  • and BEVERLY HILLS, Calif., June 22, 2021 /PRNewswire/ -- CorEvitas, LLC and The Guthy-Jackson Charitable Foundation (GJCF) announce first patient enrollment in the SPHERES (Synergy of Prospective Health & Experimental Research for Emerging Solutions in NMOSD) Registry for Neuromyelitis Optica Spectrum Disorder (NMOSD).
  • The SPHERES Registry is a collaboration between GJCF and CorEvitas designed to comprehensively study treatment efficacy and safety with a goal of enhancing outcomes for patients with NMOSD.
  • "First patient enrollment is a milestone achievement in the SPHERES study to understand and improve clinical outcomes in the new era of approved NMOSD therapeutics.
  • SPHERES will also facilitate quantum leaps in the field, including the GJCF Relapse Navigator to standardize relapse adjudication and severity.

CytRx Notes Orphazyme’s Regulatory Update from the FDA on Arimoclomol for Niemann-Pick Disease Type C

Retrieved on: 
Friday, June 18, 2021
Biotechnology, FDA, Health, Pharmaceutical, Oncology, Lipid storage disorders, Rare diseases, Clinical medicine, Health, Medical genetics, Niemann–Pick disease, type C, Niemann–Pick disease, Gaucher's disease, Niemann, Type C, NPC, Lysosomal storage disease

Orphazyme is developing arimoclomol in Niemann-Pick disease Type C ("NPC") and Gaucher disease.

Key Points: 
  • 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.
  • In addition, arimoclomol has received breakthrough therapy designation and rare-pediatric disease designation from the FDA for NPC.

Horizon Therapeutics plc Announces Multiple Presentations on Neuromyelitis Optica Spectrum Disorder (NMOSD) at the 7th Congress of the European Academy of Neurology (EAN)

Retrieved on: 
Friday, June 18, 2021
Health, Clinical trials, Research, Pharmaceutical, Science, Biotechnology, Autoimmune diseases, Branches of biology, Integral membrane proteins, Rare diseases, Organ systems, Neuromyelitis optica spectrum disorder, Clinical medicine, NMO, Multiple sclerosis, Aquaporin 4, Aquaporin, Myelin oligodendrocyte glycoprotein, Neuromyelitis Optica Spectrum Disorder (NMOSD), Horizon, NEUROMYELITIS OPTICA SPECTRUM DISORDER (NMOSD), HORIZON

Horizon Therapeutics plc (Nasdaq: HZNP) today announced the presentation of company information on Neuromyelitis Optica Spectrum Disorder (NMOSD) in three oral sessions during the 7th Congress of the European Academy of Neurology (EAN), June 19 -22, 2021.

Key Points: 
  • Horizon Therapeutics plc (Nasdaq: HZNP) today announced the presentation of company information on Neuromyelitis Optica Spectrum Disorder (NMOSD) in three oral sessions during the 7th Congress of the European Academy of Neurology (EAN), June 19 -22, 2021.
  • Presentations will discuss information from the open-label extension period (OLP) of the pivotal N-MOmentum trial for people living with NMOSD.
  • Title: Long term safety outcomes in neuromyelitis optica spectrum disorder: N-MOmentum trial
    Title: Long term efficacy outcomes in neuromyelitis optica spectrum disorder: N-MOmentum trial
    NMOSD is a unifying term for neuromyelitis optica (NMO) and related syndromes.
  • Baranello RJ, Avasarala, JR. Neuromyelitis optica spectrum disorders with and without aquaporin 4 antibody: Characterization, differential diagnosis, and recent advances.

Orphazyme provides regulatory update from FDA on arimoclomol for Niemann-Pick disease type C

Retrieved on: 
Friday, June 18, 2021
Lipid storage disorders, Rare diseases, Medicine, Health, Clinical medicine, Niemann–Pick disease, type C, Niemann–Pick disease, Niemann, Gaucher's disease, NPC, Type C, Disease

Thisis a disease-specific measure of disease progression consisting of the five clinically most relevant domains to patients with NPC,caregiversand physicians.

Key Points: 
  • Thisis a disease-specific measure of disease progression consisting of the five clinically most relevant domains to patients with NPC,caregiversand physicians.
  • I strongly believe there is a path forward for Orphazyme based on our pursuit of regulatory approval from the European Medicines Agency and continued dialogue with the FDA.
  • Niemann-Pick disease type C (NPC) is a rare, genetic, progressively debilitating, and often fatal neurovisceral disease.
  • Arimoclomol, the companys lead candidate, is in clinical development for rare diseases including Niemann-Pick disease type C (NPC) and Gaucher disease.

Freeline Doses Second Patient of Phase 1/2 MARVEL-1 Clinical Trial for Fabry Disease

Retrieved on: 
Wednesday, June 16, 2021
Lipid storage disorders, Health sciences, Health, Rare diseases, Clinical medicine, Clinical research, Drug discovery, Pharmaceutical industry, Fabry disease, Gaucher's disease, Clinical trial, Fabry

Dosing the second patient in the MARVEL-1 study is an important milestone for Freeline and evidence of progress in our Fabry program, said Theresa Heggie, Chief Executive Officer of Freeline.

Key Points: 
  • Dosing the second patient in the MARVEL-1 study is an important milestone for Freeline and evidence of progress in our Fabry program, said Theresa Heggie, Chief Executive Officer of Freeline.
  • MARVEL-1 is a multicenter, international, Phase1/2 dose-finding trial in adult males with classic Fabry disease being conducted in two parts: in previously treated patients and in previously untreated patients.
  • FLT190 is an investigational AAV gene therapy in development as a potential treatment for patients with Fabry disease that is currently being studied in a Phase1/2 clinical trial.
  • The Company has clinical programs in HemophiliaB, Fabry disease and Gaucher disease Type 1, as well as a preclinical program in HemophiliaA.