Usher syndrome

AAVantgarde announces its innovative clinical study design for its lead program in Usher 1B

Retrieved on: 
Venerdì, Maggio 3, 2024
University, Summit, Retinitis pigmentosa, Hope, Trial of the century, Principal investigator, AAV, Patient, Principal, Gene, Health, Clinical trial, USH1B, Usher syndrome, Medical device

The LUCE-1 clinical study is a first-in-human Phase 1/2 clinical study designed in collaboration with Prof. Simonelli and other leading experts in the field.

Key Points: 
  • The LUCE-1 clinical study is a first-in-human Phase 1/2 clinical study designed in collaboration with Prof. Simonelli and other leading experts in the field.
  • Leveraging AAVantgarde’s proprietary Dual Hybrid platform, this study aims to provide robust evidence supporting the effectiveness and safety profile of the Company’s lead program, AAVB-081, that addresses the retinitis pigmentosa derived from MYO7A-related Usher syndrome (USH1B).
  • “I am delighted to be presenting the pre-clinical and clinical activities that paved the way to the design of this first-in-human Phase 1/2 clinical study at the Summit.
  • Through this innovative design, we aim to revolutionize our approach to understanding and treating Usher 1B patients.

National Organization for Rare Disorders (NORD) Announces 2024 Rare Impact Award Honorees, Emmy Award-Winning Journalist, Peter Alexander to Host

Retrieved on: 
Lunedì, Aprile 22, 2024
Education, FDA, Haemophilia, Risk, Genetics, Policy, Legislation, Louisiana House of Representatives, Diagnosis, Community, Enzyme replacement therapy, DSM-IV codes, Universal Pictures, Usher syndrome, NBC News, Primary immunodeficiency, Metabolic disorder, Therapy, Abbey, Coagulopathy, IgA nephropathy, Hospital, Rare disease, BioMarin Pharmaceutical, Proteinuria, Alpha-mannosidosis, Regeneron Pharmaceuticals, House, Immunoglobulin A, Medicine, Biogen, Universal Studios Hollywood, HFSC, PDT, APDS, Friedreich's ataxia, Disease, Science, Patient, Caregiver, Representative, Activated, Pharmaceutical industry

"Through science and advocacy, they are transforming the lives of those impacted by rare diseases, paving the way for new possibilities in treatment and care."

Key Points: 
  • "Through science and advocacy, they are transforming the lives of those impacted by rare diseases, paving the way for new possibilities in treatment and care."
  • "Having witnessed my sister's journey, I know the challenges rare disease families face are not just physical but also emotional, mental, and financial.
  • In addition to the individual award recipients, the Rare Impact Awards are also honoring companies that have developed treatments changing the lives of those with rare diseases.
  • Regeneron Pharmaceuticals for Veopoz™: The first and only treatment indicated specifically for CHAPLE disease, a rare hereditary immune disease.

BlueRock Therapeutics and Foundation Fighting Blindness announce collaboration to expand the Uni-Rare natural history study of patients living with inherited retinal diseases

Retrieved on: 
Lunedì, Marzo 25, 2024
Retina, Research, Gene, Development, IRD, Leber congenital amaurosis, Retinitis pigmentosa, Paratriathlon, Patient, Bayer, Foundation Fighting Blindness, Visual impairment, University, Wilfrid Sellars, Senior, IND, Therapy, IPSC, Usher syndrome, B cell, Pharmaceutical industry

The new cohort will include patients living with IRDs caused by mutations in multiple genes.

Key Points: 
  • The new cohort will include patients living with IRDs caused by mutations in multiple genes.
  • “BlueRock is developing a pipeline of cell therapies that we believe has great potential for restoring vision in people living with blindness caused by retinal disease,” said Ahmed Enayetallah, Senior Vice President and Head of Development for BlueRock Therapeutics.
  • Primary photoreceptor diseases are a subgroup of inherited retinal diseases that includes retinitis pigmentosa and cone- rod dystrophies.
  • OpCT-001 aims to restore vision loss caused by these diseases by replacing degenerated tissue in the retina with functional cells.

Arctic Therapeutics and Nacuity Pharmaceuticals Announce European Medicines Agency Approval to Initiate First Clinical Trial of AT-001 (NPI-001) for the Treatment of HCCAA

Retrieved on: 
Martedì, Marzo 12, 2024
Retinitis pigmentosa, Disease, Partnership, Tablet, SVP, Stroke, Deficit spending, EMA, Cystinosis, GMP, European Medicines Agency, Clinical trial, Intraparenchymal hemorrhage, NACA, Safety, CSO, Cataract, Usher syndrome, Dementia, Oxidative stress, Amyloid, Service provider, Pharmaceutical industry

Current treatment options are severely limited, focusing primarily on symptom management rather than addressing the underlying cause of the disease.

Key Points: 
  • Current treatment options are severely limited, focusing primarily on symptom management rather than addressing the underlying cause of the disease.
  • “EMA's approval paves the way for a comprehensive investigation into the safety and efficacy of a novel therapeutic approach designed to halt or reverse the progression of HCCAA.
  • Nacuity is also currently evaluating NPI-001 in Phase 1/2 clinical trials in Australia for retinitis pigmentosa associated with Usher syndrome and cystinosis.
  • “Our proprietary NPI-001 has potential to address the myriad diseases and conditions where oxidative stress plays a role.

Nacuity Pharmaceuticals Announces Expansion of its Business Advisory Board with Appointment of Rare Disease Advocate Daniel Feller

Retrieved on: 
Mercoledì, Febbraio 14, 2024
Retinitis pigmentosa, Cataract, CRISPR, Usher, Growth, Genome, University, Therapy, DSM-IV codes, Family, Medicine, Oxidative stress, Usher syndrome, Research, Pharmaceutical industry

FORT WORTH, Texas, Feb. 14, 2024 (GLOBE NEWSWIRE) -- Nacuity Pharmaceuticals, Inc., a clinical stage biopharmaceutical company developing treatments for retinitis pigmentosa, cataracts and other ocular diseases caused by oxidative stress, today announced the expansion of its business advisory board with the appointment of Daniel Feller.

Key Points: 
  • FORT WORTH, Texas, Feb. 14, 2024 (GLOBE NEWSWIRE) -- Nacuity Pharmaceuticals, Inc., a clinical stage biopharmaceutical company developing treatments for retinitis pigmentosa, cataracts and other ocular diseases caused by oxidative stress, today announced the expansion of its business advisory board with the appointment of Daniel Feller.
  • Mr. Feller founded Talisman Licensing, a brand building agency in Melbourne, Australia, and has served as its CEO since the Company’s inception in 2007.
  • Mrs. Feller also co-founded and currently serves as the director of UsherKids Australia, an Australian-based support network for families with children diagnosed with Usher syndrome.
  • “Nacuity’s oxidative stress therapies have broad potential to treat a variety of diseases, including retinitis pigmentosa associated with Usher syndrome.

Foundation Fighting Blindness Hosting Webinar for Eye Care Professionals: Best Clinical Practices for Patients with Inherited Retinal Diseases

Retrieved on: 
Martedì, Febbraio 13, 2024
Therapy, Retinitis pigmentosa, Leber congenital amaurosis, Caregiver, Doctor of Philosophy, Ear, SCCO, University of Iowa, MD, Optometry, Brain damage, Genetic testing, University, Foundation Fighting Blindness, Visual impairment, Stargardt disease, Genetics, OD, Patient, IRD, Rehabilitation, Harvard Medical School, Marshall B. Ketchum University, Science, Usher syndrome, Research, Acquired brain injury, Nursing

COLUMBIA, Md., Feb. 13, 2024 /PRNewswire/ -- The Foundation Fighting Blindness, the driving force in the global development of treatments and cures for blinding diseases, will host a webinar for eye care professionals on the best practices for managing their patients with inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Stargardt disease, and Leber congenital amaurosis. This webinar will be a part of the March Envisioning a Path to Hope initiative, raising awareness among eye care professionals for the valuable resources the Foundation provides IRD patients and caregivers.

Key Points: 
  • This webinar will be a part of the March Envisioning a Path to Hope initiative, raising awareness among eye care professionals for the valuable resources the Foundation provides IRD patients and caregivers.
  • "With nearly 50 clinical trials underway for emerging IRD therapies and no-cost genetic testing available for patients, eye care professionals can do so much to help IRD patients on their challenging journeys," says Michelle Glaze, director of professional outreach, Foundation Fighting Blindness.
  • "We are delighted to host this informative webinar to empower eye doctors to communicate hope and a path forward for their IRD patients and families."
  • She treats patients in the clinical departments of Acquired Brain Injury and Low Vision Rehabilitation, where she also conducts genetic testing for inherited eye conditions.

Usher Syndrome Society Commits Another $500,000 for New Round of Usher Syndrome Research Grants

Retrieved on: 
Giovedì, Luglio 20, 2023
Retina, Letter, Usher syndrome, University, Vision Research, Hearing loss, Boston Children's Hospital, USH, Research, Paratriathlon, Karger Publishers, Massachusetts Eye and Ear, Hearing, Weill Cornell Medicine, Hospital, University of Oregon, Ear, Pharmaceutical industry

About the Usher Syndrome SocietyThe USH Society is a non--profit created because of an urgent need to save the sight and hearing of those living with Usher syndrome. Realizing that the two most important ways to accelerate research are educating the public and raising research funds, the USH Society began using photojournalism, film, and educational events to bring Usher syndrome to the forefront of rare diseases. The Usher Syndrome Society is a registered 501(c)3. Visit www.UsherSyndromeSociety.org for more information.

Key Points: 
  • Funded projects will help drive collaborative ear-­‐and-­‐eye Usher syndrome research focused on the discovery pipeline including identification of therapeutic strategies and development of novel therapeutic agents.
  • NEEDHAM, Mass., July 20, 2023 /PRNewswire/ -- The Usher Syndrome Society (USH Society), a non-­‐ profit that uses storytelling through the arts, educational events, and collaboration to raise public awareness and funds for research to find treatments and a cure for Usher syndrome (USH) announces a request for applications for Usher syndrome research grants.
  • The "Usher Syndrome Society Translational Research Grants" are intended to support translational research on Usher syndrome in either Preclinical Research and/or Mechanism-­‐based Therapeutic Development.
  • The USH Society is committed to supporting Usher syndrome research at labs with promising work and specific funding needs that accelerate Usher syndrome research towards treatments and a cure.

Nacuity Pharmaceuticals Achieves Target Enrollment for Phase 1/2 Clinical Trial of NPI-001 for the Treatment of Retinitis Pigmentosa Associated with Usher Syndrome

Retrieved on: 
Mercoledì, Maggio 31, 2023
Male, Usher syndrome, Senior, Clinical trial, Retinitis pigmentosa, USH, Cataract, RP, Tablet, Organization, Oxidative stress, Patient, Female, Pharmaceutical industry

FORT WORTH, Texas, May 31, 2023 (GLOBE NEWSWIRE) -- Nacuity Pharmaceuticals, Inc., a clinical stage biopharmaceutical company developing treatments for retinitis pigmentosa, cataracts and other diseases caused by oxidative stress, today announced that target enrollment of 48 patients has been reached in the SLO-RP Phase 1/2 clinical trial of NPI-001 tablets in patients with retinitis pigmentosa (RP) associated with Usher syndrome (USH).

Key Points: 
  • “We are pleased to reach our target enrollment, an important step toward our goal to realize the potential of NPI-001 for patients affected by RP,” said Halden Conner, Chairman, CEO and Co-Founder of Nacuity Pharmaceuticals.
  • “We extend our gratitude to the principal investigators, Usher patient advocacy organizations and clinical sites who supported our recruitment efforts, working through challenges including the early days of a global pandemic.
  • The trial enrolled 48 male and female patients, ages 18 years and older, at its four trial sites in Australia.
  • The protocol has been amended to allow continued treatment beyond two years for interested participants while the trial is ongoing.

Emmy Award-Winning NBC News Journalist Peter Alexander to Host National Organization for Rare Disorders' (NORD) 40th Anniversary Celebration and 2023 Rare Impact Awards

Retrieved on: 
Venerdì, Marzo 31, 2023
White House, Usher syndrome, Therapy, NORD, NBC News, Research, Paratriathlon, Madison Square Garden, National Organization for Rare Disorders, Genetic disorder, Patient, DEI, FDA, Health, Emmy Awards, III, Family, News, Disease, National Portrait Gallery (United States), Vaccine, Pharmaceutical industry

, March 31, 2023 /PRNewswire/ -- The National Organization for Rare Disorders (NORD) announced today that Emmy Award-winning journalist and NBC News Chief White House correspondent, Peter Alexander, will host the 2023 Rare Impact Awards and NORD's 40th Anniversary celebration, Thursday, May 4, 2023 at the Smithsonian National Portrait Gallery in Washington, D.C. Tickets to this black-tie fundraising event are available at rareimpact.org .

Key Points: 
  • , March 31, 2023 /PRNewswire/ -- The National Organization for Rare Disorders (NORD) announced today that Emmy Award-winning journalist and NBC News Chief White House correspondent, Peter Alexander, will host the 2023 Rare Impact Awards and NORD's 40th Anniversary celebration, Thursday, May 4, 2023 at the Smithsonian National Portrait Gallery in Washington, D.C. Tickets to this black-tie fundraising event are available at rareimpact.org .
  • NBC News Chief White House correspondent, Peter Alexander, will host the National Organization for Rare Disorders' 40th Anniversary event
    Alexander also has a personal connection to the rare community.
  • Tickets and registration for the Rare Impact Awards and 40th Anniversary Celebration are available at rareimpact.org .
  • Additionally, the Usher Syndrome Society's Shine A Light on Usher  Syndrome photojournalism exhibit will be on display at the 2023 Rare Impact Awards.

Usher Syndrome Society hosting a free educational event to share the lived experience of going both deaf and blind from Usher syndrome (USH)

Retrieved on: 
Lunedì, Dicembre 5, 2022
Usher, Publication, Physician, Person, TED (conference), Conference, Usher syndrome, Retina, Hearing loss, Personality, Black, Empowerment, Face, PBS, USH, Joseph, Hearing, Harvard Medical School, Grief, Student, Pharmaceutical industry

BOSTON , Dec. 5, 2022 /PRNewswire/ -- The Usher Syndrome Society will host a free public event called This Is USH, an evening of conversation from 5:00 pm -7:00 pm at the Joseph B. Martin Conference Center at Harvard Medical School. This event is open to researchers, students, physicians, biotech and industry professionals, members of the USH community, and all interested persons to learn more about what it means to go both deaf and blind.

Key Points: 
  • BOSTON, Dec. 5, 2022 /PRNewswire/ -- The Usher Syndrome Society will host a free public event called This Is USH, an evening of conversation from 5:00 pm -7:00 pm at the Joseph B. Martin Conference Center at Harvard Medical School.
  • The Usher Syndrome Society is a non-profit organization that uses storytelling and educational events to raise awareness and funds for treatments and a cure for Usher syndrome.
  • Steven is on a mission to change the stigma that surrounds people who are blind and/or deaf and who also identifies with the LGBTQ+ and Black communities.
  • Rebecca Alexanderis an author, psychotherapist, disability rights advocate, and extreme athlete who is almost completely blind and deaf.