Rare diseases

Sio Gene Therapies to Present at the UBS Global Healthcare Virtual Conference

Retrieved on: 
Wednesday, May 19, 2021

b'Sio Gene Therapies combines cutting-edge science with bold imagination to develop genetic medicines that aim to radically improve the lives of patients.

Key Points: 
  • b'Sio Gene Therapies combines cutting-edge science with bold imagination to develop genetic medicines that aim to radically improve the lives of patients.
  • Our current pipeline of clinical-stage candidates includes the first potentially curative AAV-based gene therapies for GM1 gangliosidosis and Tay-Sachs/Sandhoff diseases, which are rare and uniformly fatal pediatric conditions caused by single gene deficiencies.
  • We are also expanding the reach of gene therapy to highly prevalent conditions such as Parkinson\xe2\x80\x99s disease, which affects millions of patients globally.
  • Led by an experienced team of gene therapy development experts, and supported by collaborations with premier academic, industry and patient advocacy organizations, Sio is focused on accelerating its candidates through clinical trials to liberate patients with debilitating diseases through the transformational power of gene therapies.

Mandos, LLC Agrees to Acquire Adrabetadex from Mallinckrodt Pharmaceuticals

Retrieved on: 
Wednesday, May 19, 2021

b'Today, Mandos, LLC (Mandos) announced they have entered into an agreement with Vtesse, LLC, a wholly owned subsidiary of Mallinckrodt Pharmaceuticals (Mallinckrodt), a global biopharmaceutical company, to acquire adrabetadex (also known as VTS-270), a drug in development for the treatment of Niemann-Pick Type C1 disease (NPC1).\nThis acquisition, if approved, will allow Mandos to pursue both the continuation of the U.S.

Key Points: 
  • b'Today, Mandos, LLC (Mandos) announced they have entered into an agreement with Vtesse, LLC, a wholly owned subsidiary of Mallinckrodt Pharmaceuticals (Mallinckrodt), a global biopharmaceutical company, to acquire adrabetadex (also known as VTS-270), a drug in development for the treatment of Niemann-Pick Type C1 disease (NPC1).\nThis acquisition, if approved, will allow Mandos to pursue both the continuation of the U.S.
  • Expanded Access Program under Rush University Medical Center (RUMC) and future research and development of adrabetadex for patients living with NPC1.
  • This leads to the abnormal accumulation of these substances within various tissues of the body, including brain, liver, spleen and lung tissue.
  • We care deeply about ensuring access for patients and are committed to supporting efforts to improve the lives of people with NPC1,\xe2\x80\x9d said Scott Riccio, EVP, Patient & Community Engagement at Mandos.\nView source version on businesswire.com: https://www.businesswire.com/news/home/20210519005970/en/\n'

Ciitizen and RARE-X Collaborate to Improve Patient Outcomes for Rare Diseases

Retrieved on: 
Wednesday, May 19, 2021

This information is critical for patients and their doctors to better understand their diseases, entice researchers and biopharma to invest in their diseases, and find clinical endpoints.

Key Points: 
  • This information is critical for patients and their doctors to better understand their diseases, entice researchers and biopharma to invest in their diseases, and find clinical endpoints.
  • Biotech companies are not investing in these diseases without a lot of de-risking, and that burden falls on afflicted families.
  • For more information, contact [email protected] and visit http://ciitizen.com/research\nRARE-X is a 501(c)(3) patient advocacy organization focused on supporting the acceleration and development of life-altering treatments and future cures for patients impacted by rare disease.
  • RARE-X is building the largest collaborative patient-driven, open-data access project for rare diseases globally.

Translate Bio Presents Preclinical Results in Primary Ciliary Dyskinesia (PCD) at American Thoracic Society (ATS) 2021 International Conference

Retrieved on: 
Tuesday, May 18, 2021

Mutations in the genes that cause PCD result in ineffective mucociliary clearance which can lead to lung disease.

Key Points: 
  • Mutations in the genes that cause PCD result in ineffective mucociliary clearance which can lead to lung disease.
  • Data presented include preclinical assessments of the level and distribution of protein expression as well as ciliary activity.
  • Translate Bio\xe2\x80\x99s lead mRNA therapeutic program is being developed as a treatment for cystic fibrosis (CF) and is in a Phase 1/2 clinical trial.
  • The Company also believes its technology is applicable to a broad range of diseases, including diseases that affect the liver.

Amolyt Pharma to Present New Phase 1 Data on AZP-3601, its Parathyroid Hormone Analog for Hypoparathyroidism, and Preclinical Data on AZP-3404 at Upcoming Scientific Conferences

Retrieved on: 
Tuesday, May 18, 2021

In addition, Amolyt will present two retrospective Natural History Study methods to identify patients with chronic hypoparathyroidism.

Key Points: 
  • In addition, Amolyt will present two retrospective Natural History Study methods to identify patients with chronic hypoparathyroidism.
  • Finally, Amolyt will present preclinical data for AZP-3404, a peptide with a new and unique potential mechanism of action on fat and glucose metabolism.
  • At ISPOR 2021, Amolyt will present proposed methods to identify patients with chronic hypoparathyroidism using claims data in the United States (US).
  • Clinical manifestations of hypoparathyroidism vary and impact a large number of tissues and organ systems, including the muscles, brain, heart, and kidneys.

EQS-News: Relief Provides Update on Progress and Plans with ACER-001 for the Treatment of Urea Cycle Disorders

Retrieved on: 
Tuesday, May 18, 2021

Following on the important steps being made by our partner in the U.S., we expect to be able to move forward rapidly in Europe.

Key Points: 
  • Following on the important steps being made by our partner in the U.S., we expect to be able to move forward rapidly in Europe.
  • ACER-001 is being developed using a microencapsulation process for the treatment of various inborn errors of metabolism, including Urea Cycle Disorders and Maple Syrup Urine Disease.
  • Suggested guidelines for the diagnosis and management of urea cycle disorders.
  • Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives.

EB Research Partnership Receives $150,000 Donation from ELONGATE to Launch the #CryptoForCures Fund to Cure Epidermolysis Bullosa

Retrieved on: 
Monday, May 17, 2021

b'NEW YORK, May 17, 2021 /PRNewswire/ --EB Research Partnership, the largest global nonprofit funding research to discover treatments and cures for Epidermolysis Bullosa (EB), today announces a $150,000 donation from Elongate, a cryptocurrency token focused on charitable giving, as the inaugural gift for the nonprofit\'s #CryptoForCures Fund, establishing Elongate as the Founding Member.

Key Points: 
  • b'NEW YORK, May 17, 2021 /PRNewswire/ --EB Research Partnership, the largest global nonprofit funding research to discover treatments and cures for Epidermolysis Bullosa (EB), today announces a $150,000 donation from Elongate, a cryptocurrency token focused on charitable giving, as the inaugural gift for the nonprofit\'s #CryptoForCures Fund, establishing Elongate as the Founding Member.
  • Cryptocurrency donations for #CryptoForCures can be made at www.ebresearch.org/cryptocurrency .\nEB affects approximately 500,000 people worldwide.
  • There is currently no treatment or cure for EB.
  • Powered by the Elongate cryptocurrency token, a 10% fee on transactions both rewards the holders and donates significant sums to charity.

Tuberous Sclerosis Alliance Evolves to TSC Alliance and Unveils New Brand

Retrieved on: 
Monday, May 17, 2021

b'Today, the Tuberous Sclerosis Alliance formally unveiled a new brand and new name: TSC Alliance .

Key Points: 
  • b'Today, the Tuberous Sclerosis Alliance formally unveiled a new brand and new name: TSC Alliance .
  • Nearly one million people worldwide have TSC.\nIn 1974, four mothers of children with TSC founded the organization, originally known as the National Tuberous Sclerosis Association.
  • In 2000, the name changed to Tuberous Sclerosis Alliance to reflect the organization\'s growth and commitment to the importance of partnerships.
  • "\nThe TSC Alliance is an internationally recognized nonprofit dedicated to finding a cure for tuberous sclerosis complex while improving the lives of those affected.

Sio Gene Therapies Announces CSF Reductions in GM1 Ganglioside from Clinical Trial of AXO-AAV-GM1 Gene Therapy

Retrieved on: 
Thursday, May 13, 2021

In the low-dose cohort, five patients with late-infantile and juvenile GM1 gangliosidosis received a 1.5x1013 vg/kg intravenous (IV) infusion of AXO-AAV-GM1.

Key Points: 
  • In the low-dose cohort, five patients with late-infantile and juvenile GM1 gangliosidosis received a 1.5x1013 vg/kg intravenous (IV) infusion of AXO-AAV-GM1.
  • All five children demonstrated signs of clinical stabilization as assessed by measures of development including the Vineland-3 Adaptive Behavior, Upright and Floor Mobility, and Clinical Global Impression scales.
  • Tifft said, \xe2\x80\x9cThese data are highly encouraging and underscore the potential of Sio\xe2\x80\x99s gene therapy program for GM1 gangliosidosis.
  • We are also expanding the reach of gene therapy to highly prevalent conditions such as Parkinson\xe2\x80\x99s disease, which affects millions of patients globally.

Global Pompe Disease Pipeline Insight Report 2020: Disease Pipeline Analysis, Therapeutic Assessment, Unmet Needs, & Impact of Drugs - ResearchAndMarkets.com

Retrieved on: 
Thursday, May 13, 2021

b'The "Pompe Disease - Pipeline Insight, 2020" drug pipelines has been added to ResearchAndMarkets.com\'s offering.\nThe "Pompe Disease - Pipeline Insight, 2020," report provides comprehensive insights about 30+ companies and 30+ pipeline drugs in the Pompe Disease pipeline landscape.

Key Points: 
  • b'The "Pompe Disease - Pipeline Insight, 2020" drug pipelines has been added to ResearchAndMarkets.com\'s offering.\nThe "Pompe Disease - Pipeline Insight, 2020," report provides comprehensive insights about 30+ companies and 30+ pipeline drugs in the Pompe Disease pipeline landscape.
  • It also covers the rapeutics assessment by product type, stage, route of administration, and molecule type.
  • It further highlights the inactive pipeline products in this space.\nEnzyme replacement therapy (ERT) is an approved treatment for all patients with Pompe disease.
  • phase III include Amicus Therapeutics and others.\nPompe Disease pipeline report provides the rapeutic assessment of the pipeline drugs by the Route of Administration.\n'