Rare diseases

Zogenix to Participate in the BofA Securities SMID Cap 2H21 Ideas Conference

Retrieved on: 
Tuesday, August 3, 2021
Health, Clinical medicine, Neurological disorders, Epilepsy, Rare diseases, CDKL5 deficiency disorder, Syndromes, Dravet syndrome, Lennox–Gastaut syndrome, CDKL5, Fenfluramine, Epilepsy syndromes

Zogenix is a global biopharmaceutical company committed to developing and commercializing therapies with the potential to transform the lives of patients and their families living with rare diseases.

Key Points: 
  • Zogenix is a global biopharmaceutical company committed to developing and commercializing therapies with the potential to transform the lives of patients and their families living with rare diseases.
  • The companys first rare disease therapy, FINTEPLA (fenfluramine) oral solution, has been approved by the U.S. FDA and the European Medicines Agency and is in development in Japan for the treatment of seizures associated with Dravet syndrome, a rare, severe lifelong epilepsy.
  • The company has two additional late-stage development programs: one in a rare epilepsy called Lennox-Gastaut syndrome and one in a mitochondrial disease called TK2 deficiency.
  • Zogenix also plans to initiate a study of FINTEPLA in a genetic epilepsy called CDKL5 Deficiency Disorder (CDD) and is collaborating with Tevard Biosciences to identify and develop potential next-generation gene therapies for Dravet syndrome and other genetic epilepsies.

Haymarket Medical Network Launches Rare Disease Advisor

Retrieved on: 
Tuesday, August 3, 2021
Other Communications, Infectious diseases, Publishing, Marketing, Advertising, Communications, Other Health, Health, General Health, Rare disease, HCPS, Medicine, Rare diseases

Haymarket Medical Network today launched Rare Disease Advisor, a new digital resource for healthcare professionals (HCPs) to help them recognize, diagnose, refer and treat rare diseases.

Key Points: 
  • Haymarket Medical Network today launched Rare Disease Advisor, a new digital resource for healthcare professionals (HCPs) to help them recognize, diagnose, refer and treat rare diseases.
  • The sites thorough approach to covering rare disease news and perspectives will also benefit patients by providing them with up-to-date and relevant information that allows them to advocate for themselves and their families.
  • "Patients suffering from rare medical conditions often struggle to be properly diagnosed.
  • I am excited that Rare Disease Advisor will inform HCPs on the innovative therapies being developed and help connect underserved patients to treatment, said Mike Graziani, President, Haymarket Medical Communications Group.

Moderna Receives FDA Fast Track Designation for Respiratory Syncytial Virus (RSV) Vaccine (mRNA-1345)

Retrieved on: 
Tuesday, August 3, 2021
Infectious diseases, FDA, Diabetes, Clinical trials, Biotechnology, Other Health, Health, Pharmaceutical, General Health, Rare diseases, Medicine, Clinical trials, RNA vaccines, Health, Vaccines, COVID-19 vaccine, Medical research, Methylmalonic acidemia, Syncytial virus, Zika virus vaccine, Propionic acidemia, mRNA-1345, Moderna, MRNA-1345, MODERNA

The Fast Track designation for older adults underscores the urgent need for a vaccine against RSV.

Key Points: 
  • The Fast Track designation for older adults underscores the urgent need for a vaccine against RSV.
  • Respiratory syncytial virus is a common respiratory virus that generally causes cold-like symptoms.
  • Programs with Fast Track designation may benefit from early and frequent communication with the FDA, in addition to a rolling submission of the marketing application.
  • The Company previously received Fast Track designation for its COVID-19 vaccine candidate, Zika vaccine candidate (mRNA-1893), methylmalonic acidemia (MMA) (mRNA-3704) and propionic acidemia (PA) (mRNA-3927) programs.

Eiger BioPharmaceuticals to Participate in Upcoming August 2021 Investor Conferences

Retrieved on: 
Tuesday, August 3, 2021
Health sciences, Life sciences, Health, Senescence, Progeroid syndromes, Genodermatoses, Rare diseases, Laminopathy, Muscular dystrophy, Lonafarnib, Progeria, HGPS

A live webcast of the Wedbush PacGrow panel discussion will be available on the Eiger Biopharmaceuticals website at www.eigerbio.com in the Investors section.

Key Points: 
  • A live webcast of the Wedbush PacGrow panel discussion will be available on the Eiger Biopharmaceuticals website at www.eigerbio.com in the Investors section.
  • A replay of the webcast will be available approximately one hour following the live event.
  • Eigeris a commercial-stage biopharmaceutical company focused on the development and commercialization of targeted therapies for serious rare and ultra-rare diseases.
  • Zokinvyfor the treatment of Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria) and processing-deficient progeroid laminopathies is the Company's first FDA approved product.

TSC Alliance Applauds Release of Updated International Guidelines for Tuberous Sclerosis Complex Diagnostic and Management Recommendations

Retrieved on: 
Tuesday, August 3, 2021
Rare diseases, Autosomal dominant disorders, Autism, Biology of obsessive–compulsive disorder, Intellectual disability, Tuberous sclerosis, Abnormal psychology, Clinical medicine, Branches of biology, TSC, TSC1

SILVER SPRING, Md., Aug. 3, 2021 /PRNewswire/ --Today, the TSC Alliance announced the publication of two new papers in the prestigious Pediatric Neurology: " Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations " and " Beyond the Guidelines: How We Can Improve Healthcare for People with Tuberous Sclerosis Complex Around the World ."

Key Points: 
  • SILVER SPRING, Md., Aug. 3, 2021 /PRNewswire/ --Today, the TSC Alliance announced the publication of two new papers in the prestigious Pediatric Neurology: " Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations " and " Beyond the Guidelines: How We Can Improve Healthcare for People with Tuberous Sclerosis Complex Around the World ."
  • Tuberous sclerosis complex (TSC) causes tumors to grow in different organs and can impair their function, primarily the brain, heart, kidneys, skin and lungs.
  • "The TSC Alliance is thrilled to announce updated 'gold standards' for TSC diagnosis, surveillance and management," said President & CEO Kari Luther Rosbeck.
  • Additionally, TSC International , a consortium of organizations that support individuals with TSC around the world, penned the companion piece, "Beyond the Guidelines: How We Can Improve Healthcare for People with Tuberous Sclerosis Complex from Around the World."

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

Retrieved on: 
Monday, August 2, 2021
Lipid storage disorders, Rare diseases, Medicine, Fabry disease, Health, Migalastat, Disease, Fabry

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
Biotechnology, Hospitals, Pharmaceutical, Health, Lipid storage disorders, Rare diseases, GM1, Gangliosidosis, Tottori, Pharma, Branches of biology, Health, GM1 gangliosidosis, GC Pharma, Tottori University, GM1 GANGLIOSIDOSIS, GC PHARMA, TOTTORI UNIVERSITY

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.

ReCode Therapeutics to Present Preclinical Data from mRNA-Based Program for Primary Ciliary Dyskinesia at the 2021 PCD on the Move Virtual Scientific Conference

Retrieved on: 
Friday, July 30, 2021
Biotechnology, Pharmaceutical, Genetics, Health, Medical specialties, Branches of biology, Clinical medicine, Rare diseases, Ciliopathy, Infertility, Primary ciliary dyskinesia, Cystic fibrosis, Respiratory disease, Cilium

Archived replays of each presentation will be made available on the Companys website following the presentations.

Key Points: 
  • Archived replays of each presentation will be made available on the Companys website following the presentations.
  • ReCode Therapeutics is an integrated genetic medicines company developing disease-modifying therapeutics using powerful LNP delivery technology to target organs and tissues beyond the liver.
  • The Companys pipeline includes lead programs for patients with life-limiting genetic respiratory diseases, including cystic fibrosis and primary ciliary dyskinesia.
  • For more information, visit www.recodetx.com and follow us on Twitter @ ReCodeTx and LinkedIn .

US FDA grants VICO Therapeutics Orphan-Drug Designation for VO659, an Investigational Therapy for Huntington Disease

Retrieved on: 
Thursday, July 29, 2021
Neurological disorders, Autosomal dominant disorders, Branches of biology, Clinical medicine, Rare diseases, Trinucleotide repeat disorders, Spinocerebellar ataxia, Ataxia, Huntington's disease, SCA, Dementia

This news comes only one month after VICO announced that VO659 had received orphan-drug designation for the treatment of spinocerebellar ataxia (SCA).

Key Points: 
  • This news comes only one month after VICO announced that VO659 had received orphan-drug designation for the treatment of spinocerebellar ataxia (SCA).
  • This new designation completes the quartet of orphan designations for VO659 in HD and SCA in both the US and EU.
  • Patients affected by Huntington's disease experience motor disturbances, personality changes and dementia, leading to increasing disability, loss of independence and reduced survival.
  • VICO's antisense oligonucleotide platform (AON) is focusing on different forms of spinocerebellar ataxia (SCA) and Huntington Disease (HD).

US FDA grants VICO Therapeutics Orphan-Drug Designation for VO659, an Investigational Therapy for Huntington Disease

Retrieved on: 
Thursday, July 29, 2021
Neurological disorders, Autosomal dominant disorders, Branches of biology, Clinical medicine, Rare diseases, Trinucleotide repeat disorders, Spinocerebellar ataxia, Ataxia, Huntington's disease, SCA, Dementia

This news comes only one month after VICO announced that VO659 had received orphan-drug designation for the treatment of spinocerebellar ataxia (SCA).

Key Points: 
  • This news comes only one month after VICO announced that VO659 had received orphan-drug designation for the treatment of spinocerebellar ataxia (SCA).
  • This new designation completes the quartet of orphan designations for VO659 in HD and SCA in both the US and EU.
  • Patients affected by Huntington's disease experience motor disturbances, personality changes and dementia, leading to increasing disability, loss of independence and reduced survival.
  • VICO's antisense oligonucleotide platform (AON) is focusing on different forms of spinocerebellar ataxia (SCA) and Huntington Disease (HD).