Rare diseases

Abeona Therapeutics Announces Updated EB-101 Phase 1/2a Clinical Results in Recessive Dystrophic Epidermolysis Bullosa at the Society for Pediatric Dermatology 46th Annual Meeting

Retrieved on: 
Wednesday, July 7, 2021
Genodermatoses, Life sciences, Health sciences, Health, Rare diseases, Collagen disease, Epidermolysis bullosa dystrophica, Epidermolysis bullosa, Pharmacy, Breakthrough therapy, Chronic wound, Biopharmaceutical

The results were reported in a poster, titled Long-Term Healing, Pain Reduction, and Patient-Reported Outcomes in Recessive Dystrophic Epidermolysis Bullosa Following EB-101 Treatment of Large, Chronic Wounds, at the Society for Pediatric Dermatology (SPD) 46th Annual Meeting.

Key Points: 
  • The results were reported in a poster, titled Long-Term Healing, Pain Reduction, and Patient-Reported Outcomes in Recessive Dystrophic Epidermolysis Bullosa Following EB-101 Treatment of Large, Chronic Wounds, at the Society for Pediatric Dermatology (SPD) 46th Annual Meeting.
  • The updated results also included investigator assessment of the presence of pain in treated wounds up to six years following treatment with EB-101.
  • Abeona produces EB-101 for the VIITAL study at its fully integrated gene and cell therapy manufacturing facility in Cleveland, OH.
  • Abeona Therapeutics Inc. is a clinical-stage biopharmaceutical company developing gene and cell therapies for serious diseases.

Coya Therapeutics Receives Orphan Drug Designation from the FDA for ALS001, an Autologous Treg Cell Therapy, for the Treatment of ALS

Retrieved on: 
Wednesday, July 7, 2021
Branches of biology, Rare diseases, Neuroscience, Nervous system, Motor neuron diseases, Neuromuscular Disorders, Amyotrophic lateral sclerosis, Neurological disorders, Motor neuron, Neurodegeneration, Neuron, Motor neuron disease

ALS is a progressive neurodegenerative disease primarily affecting motor neurons in the cortex, brain stem and spinal cord.

Key Points: 
  • ALS is a progressive neurodegenerative disease primarily affecting motor neurons in the cortex, brain stem and spinal cord.
  • As a result, symptoms include the loss of mobility, muscle control, speech and eventually the ability to breathe.
  • According to the ALS Association, approximately 5,000 people are diagnosed per year, and the average life expectancy is two to five years.
  • Headquartered in Houston, TX, Coya Therapeutics (TM) is a clinical-stage biotechnology company developing first-in-class and best-in-class approaches utilizing adoptive regulatory T cells (Tregs) to target disease.

Rare Disease Symptoms as a Marker for Rare Disease & Improving Diagnosis

Retrieved on: 
Tuesday, July 6, 2021
Branches of biology, Medicine, Neurological disorders, Rare diseases, Signs and symptoms, Rare disease, Disease, Amyotrophic lateral sclerosis, Metabolic myopathy, Neuromyotonia

Symptoms can affect any part of the body and body system, and many rare diseases present with symptoms that affect multiple parts of the body.

Key Points: 
  • Symptoms can affect any part of the body and body system, and many rare diseases present with symptoms that affect multiple parts of the body.
  • Symptoms of a rare disease can range from mild to severe, depending on the rare disease, but also on the individual affected.
  • Sometimes, even siblings or family members with the same rare disease diagnosis, display slightly different symptoms, or symptoms of varying degrees of severity.
  • Rare diseases are generally not treatable, but many of their symptoms may be, depending on the type and severity.

Mandos, LLC Completes Acquisition of Adrabetadex from Mallinckrodt Pharmaceuticals

Retrieved on: 
Thursday, July 1, 2021
Biotechnology, Health, Genetics, Pharmaceutical, Cardiology, Lipid storage disorders, Rare diseases, NPC1, Mallinckrodt, Niemann–Pick disease, Branches of biology, Health, Clinical medicine

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.

Corticobasal Degeneration (CBD/CBGD/Cortical Basal Ganglionic Degeneration) (Central Nervous System) Drugs in Development, 2021 Report - ResearchAndMarkets.com

Retrieved on: 
Thursday, July 1, 2021
General Health, Pharmaceutical, Health, Other Health, Cognitive disorders, Neurodegenerative disorders, Corticobasal syndrome, Rare diseases, Corticobasal degeneration, Basal ganglia, CBD, Branches of biology, Neuroscience, Academic disciplines

The "Corticobasal Degeneration (CBD/CBGD/Cortical Basal Ganglionic Degeneration) (Central Nervous System) - Drugs in Development, 2021" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Corticobasal Degeneration (CBD/CBGD/Cortical Basal Ganglionic Degeneration) (Central Nervous System) - Drugs in Development, 2021" report has been added to ResearchAndMarkets.com's offering.
  • Additionally, the report provides an overview of key players involved in therapeutic development for Corticobasal Degeneration (CBD/CBGD/Cortical Basal Ganglionic Degeneration) and features dormant and discontinued projects.
  • The report reviews key players involved in the development of Corticobasal Degeneration (CBD/CBGD/Cortical Basal Ganglionic Degeneration) (Central Nervous System) therapeutics and enlists all their major and minor projects.
  • The report assesses Corticobasal Degeneration (CBD/CBGD/Cortical Basal Ganglionic Degeneration) (Central Nervous System) therapeutics based on Drug Target, Mechanism of Action (MoA), Route of Administration (RoA) and Molecule Type.

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

Retrieved on: 
Wednesday, June 30, 2021
Branches of biology, Lipid storage disorders, Rare diseases, Clinical medicine, Medicine, Gaucher's disease, Enzyme replacement therapy, Lysosome, Neurological disorder, Lysosomal storage disease, Roscoe Brady, Batten disease

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.

LEXEO Therapeutics Receives Rare Pediatric Disease Designation and Orphan Drug Designation for LX2006 for the Treatment of Friedreich’s Ataxia

Retrieved on: 
Wednesday, June 30, 2021
Health, Life sciences, Pharmaceuticals policy, Biotechnology law, Drug discovery, Orphan drug, Rare diseases, Food and Drug Administration, Priority review, Arcturus Therapeutics

NEW YORK, June 30, 2021 (GLOBE NEWSWIRE) -- LEXEO Therapeutics , a clinical-stage gene therapy company, today announced that the U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease designation and Orphan Drug designation to LX2006 for the treatment of Friedreichs ataxia (FA).

Key Points: 
  • NEW YORK, June 30, 2021 (GLOBE NEWSWIRE) -- LEXEO Therapeutics , a clinical-stage gene therapy company, today announced that the U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease designation and Orphan Drug designation to LX2006 for the treatment of Friedreichs ataxia (FA).
  • 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.
  • The Orphan Drug designation is granted by the FDA to drugs or biologics intended to treat a rare disease that affects fewer than 200,000 people in the U.S. Programs with Orphan Drug status are eligible for various development incentives.
  • Being granted both Rare Pediatric Disease and Orphan Drug designation shows the tremendous urgency for new, impactful therapeutic approaches such as LX2006 for people diagnosed with Friedreichs ataxia, said R. Nolan Townsend, Chief Executive Officer of LEXEO Therapeutics.

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
Biotechnology, Pharmaceutical, Health, Clinical trials, Lipid storage disorders, Rare diseases, Clinical medicine, Health, Branches of biology, Niemann–Pick disease, type C, Niemann–Pick disease, Niemann, Gaucher's disease, Type C, NPC, Arimoclomol

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
Health, Genetics, Other Science, Research, Science, Pharmaceutical, Biotechnology, Lipid storage disorders, Rare diseases, Glycolipids, Gangliosidosis, GM2 gangliosidoses, Branches of biology, GM2, Lluís Companys, GM1, Health, Spanish politicians, Dr. Stefano Portolano, Azafaros, DR. STEFANO PORTOLANO, AZAFAROS

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.

SwanBio Therapeutics Announces First Patient Enrolled in Natural History Study to Evaluate Patients with Adrenomyeloneuropathy

Retrieved on: 
Tuesday, June 29, 2021
Mental health, Health, Genetics, Physical therapy, Other Health, General Health, Clinical trials, Neurological disorders, Health, Rare diseases, Leukodystrophies, Peroxisomal disorders, Adrenoleukodystrophy, ALD, Clinical trial, AMN, Adrenomyeloneuropathy, SwanBio Therapeutics, ADRENOMYELONEUROPATHY, SWANBIO THERAPEUTICS

CYGNET is a natural history study of adrenomyeloneuropathy (AMN), a form of adrenoleukodystrophy (ALD) occurring in adulthood.

Key Points: 
  • CYGNET is a natural history study of adrenomyeloneuropathy (AMN), a form of adrenoleukodystrophy (ALD) occurring in adulthood.
  • This observational, multinational study will prospectively evaluate patients to assess the course of the disease and provide insights into potential endpoints and designs for future clinical trials.
  • We are pleased to initiate this natural history study for AMN, which has been strategically designed with patients in mind, and allows for the majority of monitoring to be conducted virtually from each patients home.
  • The global study will enroll approximately 80 adult male patients with a confirmed diagnosis of adrenoleukodystrophy (ALD).