Rare Disease Research
Treatment-resistant rare diseases: exploring landmark drug approvals in 2020 | 9/29/2020
… who so desperately need them.” Barriers to drug development There are multiple challenges involved with rare disease drug development. With experience working with the US National Organization for Rare Disorders (NORD) and directly in rare disease research , Garrison sees the main challenges being at pre-clinical stages. In pre-clinical stages, Garrison notes that the difficulty of modelling rare diseases is a major barrier. “An appropriate model that represents the …
… research forward and we’re proud to present these data at the ASBMR 2020 Annual Meeting,” said Howard Mayer, M.D., Executive Vice President and Head of Research and Development at Ipsen. “Collaboration is critical with rare disease research and development and we look forward to continuing to work with key thought leaders, clinicians, the patient advocacy community, and regulatory authorities as we build on our research and develop potential therapeutic agents …
… disease community and connecting to discuss the most current and critical topics related to rare diseases and orphan products. This year’s theme, “Entering a New Era,” refers to the current climate of innovation in rare disease research, evolving regulatory science and the need to address global public health challenges. Throughout the Summit, the focus will be on maintaining and advancing innovation while addressing current challenges. Top sponsors of the 2020 …
WASHINGTON , Sept. 10, 2020 /PRNewswire/ – At a time when it is vitally important for the rare disease community to come together, the National Organization for Rare Disorders (NORD®) has announced a program of broad-ranging topics with speakers of unparalleled expertise for the 2020 NORD Rare Diseases and Orphan Products Breakthrough Summit , taking place virtually October 8-9 …
Africa’s Missing Genomic Data and Its Impact on Health Care | 9/8/2020
Genomic medicine applications have the potential to improve health care. Understanding how genes and environmental factors can cause disease can lead to earlier diagnoses, interventions, and effective treatments. Although the Human Genome Project was completed in 2003, and has enabled rare disease research and furthered genome sequencing , it is still missing genomic data. Most genomic data used for development research is from Europe, the U.K., and North America with African …
Africa’s Missing Genomic Data and Its Impact on Health Care | 9/8/2020
Genomic medicine applications have the potential to improve health care. Understanding how genes and environmental factors can cause disease can lead to earlier diagnoses, interventions, and effective treatments. Although the Human Genome Project was completed in 2003, and has enabled rare disease research and furthered genome sequencing , it is still missing genomic data. Most genomic data used for development research is from Europe, the U.K., and North America with African …
Affiliation Rare Disease Research Center, AnGes, Kawasaki, Kanagawa, Japan ⨯ Takashi Miyajima, Roles Resources Affiliations Advanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, Japan, Rare Disease Research Center, AnGes, Kawasaki, Kanagawa, Japan ⨯ Roles Conceptualization, Supervision, Writing – review & editing Affiliation Advanced Clinical Research Center, Institute of Neurological Disorders, Shin-Yurigaoka General Hospital, Kawasaki, Kanagawa, Japan ⨯ A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to …
Stakeholders Call for Regulatory Harmonization, Clarity in FDA’s Rare Disease Research Network August 28, 2020 Expanded Access: Analysis of the Latest Developments 16 Sep Spreadsheet Validation: Best Practices to Maintain Compliance 23 Sep 300 N. Washington St., Suite 200, Falls Church, VA 22046, USA Phone 617.948.5100 – Toll free 866.219.3440 Cookie Settings …
… and evaluate false-positive rate of the prediction methods in clinical setting where rare and ultra-rare neutral variants are frequently encountered using neutral benchmark datasets [ 27 , 28 ] and clinical data. The challenge for rare disease research and diagnostics is thus to find robust classification algorithms that perform well for all the different types of variants and allele frequencies. To meet this challenge, we developed CAPICE, a new method for …
Phase 3 Trial of Pamrevlumab Enrolling DMD Patients Unable to Walk | 8/18/2020
… to walk, has enrolled a first patient. This global study is currently recruiting up to 90 boys and men, ages 12 and older, using systemic corticosteroids. Most sites are yet to be announced; the Rare Disease Research Center in Atlanta is one. Contact information can be found here. “Initiation of the LELANTOS Phase 3 clinical trial represents a key milestone for FibroGen and for our DMD clinical program, as well …
Home » Stakeholders Call for Regulatory Harmonization, Clarity in FDA’s Rare Disease Research Network Stakeholders Call for Regulatory Harmonization, Clarity in FDA’s Rare Disease Research Network August 17, 2020 Stakeholders in the FDA’s proposed Rare Diseases Cures Accelerator are asking that the new rare disease clinical trials network focus on ways to improve recruiting, support high-quality data collection and enhance regulatory clarity for rare disease studies. The FDA received more …
… publication of “ Apoptotic cell therapy for cytokine storm associated with acute severe sepsis” in Cell Death & Disease , a Nature Research Journal . The published studies were conducted in collaboration with researchers at the Rheumatology and Rare Disease Research Center, The Whohl Institute for Translational Medicine, and the Hadassah-Hebrew University Medical Center. Preclinical data from the studies demonstrate the ability of Allocetra TM to broadly resolve cytokine storm-associated organ failure …
… publication of “ Apoptotic cell therapy for cytokine storm associated with acute severe sepsis” in Cell Death & Disease , a Nature Research Journal . The published studies were conducted in collaboration with researchers at the Rheumatology and Rare Disease Research Center, The Whohl Institute for Translational Medicine, and the Hadassah-Hebrew University Medical Center. Preclinical data from the studies demonstrate the ability of Allocetra TM to broadly resolve cytokine storm-associated organ failure …
… publication of “ Apoptotic cell therapy for cytokine storm associated with acute severe sepsis” in Cell Death & Disease , a Nature Research Journal . The published studies were conducted in collaboration with researchers at the Rheumatology and Rare Disease Research Center, The Whohl Institute for Translational Medicine, and the Hadassah-Hebrew University Medical Center. Preclinical data from the studies demonstrate the ability of Allocetra TM to broadly resolve cytokine storm-associated organ failure …
… should be considered. This paper explores the successes and limitation of both the regulation and its implementation mechanisms in the current regulatory context, and suggests some improvements that could maximise its benefits and boost rare disease research even further. © 2020 The Author(s) Published by S. Karger AG, Basel Introduction The European Union’s (EU) Regulation (EC) No. 141/2000 on orphan medicinal products (OMPs) (referred to as “the regulation” in this …
… and caregivers, this year’s event includes engaging workshops for medical professionals and students. Topics include Gene Therapy for Rare Diseases, Caring for Rare Disease Patients in Your Practice, and Current Trends and Opportunities in Rare Disease Research : What Every Physician Should Know about Research. Speakers include medical and research professionals from The National Institutes of Health, PCORI and leading medical institutions from around the country. This year’s Living Rare Forum …
… the New York Academy of Sciences announced today the Winners of the third annual Innovators in Science Award for their excellence in and commitment to innovative science that has significantly advanced the field of rare disease research . Each Winner receives a prize of US $200,000. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200708005039/en/ The 2020 Winner of the Senior Scientist Award is …
… the New York Academy of Sciences announced today the Winners of the third annual Innovators in Science Award for their excellence in and commitment to innovative science that has significantly advanced the field of rare disease research . Each Winner receives a prize of US $200,000. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200708005039/en/ The 2020 Winner of the Senior Scientist Award is …
… the New York Academy of Sciences announced today the Winners of the third annual Innovators in Science Award for their excellence in and commitment to innovative science that has significantly advanced the field of rare disease research . Each Winner receives a prize of US $200,000. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200708005039/en/ The 2020 Winner of the Senior Scientist Award is …
… the New York Academy of Sciences announced today the Winners of the third annual Innovators in Science Award for their excellence in and commitment to innovative science that has significantly advanced the field of rare disease research . Each Winner receives a prize of US $200,000. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200708005039/en/ The 2020 Winner of the Senior Scientist Award is …
… the New York Academy of Sciences announced today the Winners of the third annual Innovators in Science Award for their excellence in and commitment to innovative science that has significantly advanced the field of rare disease research . Each Winner receives a prize of US $200,000. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200708005039/en/ The 2020 Winner of the Senior Scientist Award is …
… the New York Academy of Sciences announced today the Winners of the third annual Innovators in Science Award for their excellence in and commitment to innovative science that has significantly advanced the field of rare disease research . Each Winner receives a prize of US $200,000. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200708005039/en/ The 2020 Winner of the Senior Scientist Award is …
… the New York Academy of Sciences announced today the Winners of the third annual Innovators in Science Award for their excellence in and commitment to innovative science that has significantly advanced the field of rare disease research . Each Winner receives a prize of US $200,000. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200708005039/en/ The 2020 Winner of the Senior Scientist Award is …
… the New York Academy of Sciences announced today the Winners of the third annual Innovators in Science Award for their excellence in and commitment to innovative science that has significantly advanced the field of rare disease research . Each Winner receives a prize of US $200,000. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20200708005039/en/ The 2020 Winner of the Senior Scientist Award is …
… the New York Academy of Sciences have announced the Winners of the third annual Innovators in Science Award for their excellence in and commitment to innovative science that has significantly advanced the field of rare disease research . Each Winner receives a prize of US $200,000. The 2020 Winner of the Senior Scientist Award is Adrian R. Krainer, Ph.D., St. Giles Foundation Professor at Cold Spring Harbor Laboratory. Prof. Krainer is …
Biotech
… Sep 23, 2020 Save PARIS & NEW YORK–(BUSINESS WIRE)–Sep 23, 2020– Vivet Therapeutics (“Vivet”), a privately held gene therapy biotech company dedicated to developing treatments for inherited liver disorders with high unmet medical need … new therapies for patients,” said Seng Cheng, Chief Scientific Officer, Rare Disease Research Unit, Pfizer. About Vivet Therapeutics Vivet Therapeutics is an emerging biotechnology company developing novel gene therapy treatments for rare, inherited metabolic diseases …
Novoheart Holdings Inc. Reports First Quarter 2020 Financial Results | Globe Newswire | 11/20/2019
… the Regents of the University of California, Irvine (“ UCI ”) Entered into three additional commercial agreements with various pharma clients and biotech companies. Commencement of Phase II of a commercial agreement with the Global Pharma Partner … two research contracts with Pfizer’s Global Safety Pharmacology Unit and Rare Disease Research Unit, demonstrating the capability of Novoheart’s proprietary MyHeart TM Platform in drug discovery and development. The first study, published in the August …
Gene Therapy
Weather AP Vivet Therapeutics and Pfizer Inc. Enter into Manufacturing Agreement for Vivet’s Investigational Gene Therapy for Wilson Disease Sep 23, 2020 Save PARIS & NEW YORK–(BUSINESS WIRE)–Sep 23, 2020– Vivet Therapeutics (“Vivet”), a … new therapies for patients,” said Seng Cheng, Chief Scientific Officer, Rare Disease Research Unit, Pfizer. About Vivet Therapeutics Vivet Therapeutics is an emerging biotechnology company developing novel gene therapy treatments for rare, inherited metabolic diseases …
… updated follow-up data from the Phase 1/2 Alta study of giroctocogene fitelparvovec (SB-525, or PF-07055480), an investigational gene therapy for patients with severe hemophilia A. All five patients with severe hemophilia A … Cheng, Senior Vice President and Chief Scientific Officer of Pfizer’s Rare Disease Research Unit. “The Phase 3 lead in study is ongoing, and we look forward to dosing patients with this investigational gene therapy in …
Food and Drug Administration
… development of VTX-801, for which an Investigational New Drug (IND) application is planned to be filed with the U.S. Food and Drug Administration (FDA) in 2020. “The manufacture of potentially transformative gene therapy technologies … new therapies for patients,” said Seng Cheng, Chief Scientific Officer, Rare Disease Research Unit, Pfizer. About Vivet Therapeutics Vivet Therapeutics is an emerging biotechnology company developing novel gene therapy treatments for rare, inherited metabolic diseases …
… development of VTX-801, for which an Investigational New Drug (IND) application is planned to be filed with the U.S. Food and Drug Administration (FDA) in 2020. “The manufacture of potentially transformative gene therapy technologies … new therapies for patients,” said Seng Cheng, Chief Scientific Officer, Rare Disease Research Unit, Pfizer. About Vivet Therapeutics Vivet Therapeutics is an emerging biotechnology company developing novel gene therapy treatments for rare, inherited metabolic diseases …
NIH
… in Global Health on “International Perspectives on Innovation, Affordability and Creating a Sustainable Healthcare System” Two parallel panels—one from NIH and one from FDA—on “Changing the Clinical Development Paradigm” and “Entering a New … New Era,” refers to the current climate of innovation in rare disease research, evolving regulatory science and the need to address global public health challenges. Throughout the Summit, the focus will be on maintaining and …
… is extremely complex, costly and risky to develop orphan therapies. At Biocom, we are dedicated to supporting the work of rare disease research companies, advocating for federal programs that incentivize orphan drug development and ensuring … Food and Drug Administration (FDA) and National Institutes of Health (NIH) that provide resources, assistance and funding for orphan product R&D. “Biocom’s Fly-In to Washington, D.C., was a great example of how stakeholders …
Clinical Data
… element for patients living with severe hemophilia A,” said Seng Cheng, Senior Vice President and Chief Scientific Officer of Pfizer’s Rare Disease Research Unit. “The Phase 3 lead in study is ongoing, and we look … timelines for conducting phase 3 clinical trials and sharing additional clinical data and other statements that are not historical fact. These statements are not guarantees of future performance and are subject to risks and uncertainties …
NEW YORK- Pfizer Inc. (NYSE: PFE) today announced updated Phase 1b clinical data on PF-06939926, an investigational gene therapy being developed to treat Duchenne muscular dystrophy (DMD). The preliminary data from 9 ambulatory boys … medical need,” said Seng Cheng, PhD, Chief Scientific Officer, Pfizer Rare Disease Research Unit. “ We are advancing our Phase 3 program as quickly as possible and plan to begin dosing patients in the second half …
Medical Research
… platform giving consumers control of their health data with continuous and sharable access to their full medical record, today announced that it has launched a research study together with Project Alive to further medical research and understanding of Hunter syndrome. Using patient-reported data from Backpack Health’s Hunter Syndrome International Patient Registry , Project Alive will examine potential associations between approved and experimental therapies and toileting skills among patients with neurocognitive …
Backpack Health Launches Rare Disease Research Study in Partnership with Project Alive | 11/19/2019
… platform giving consumers control of their health data with continuous and sharable access to their full medical record, today announced that it has launched a research study together with Project Alive to further medical research and understanding of Hunter syndrome. Using patient-reported data from Backpack Health’s Hunter Syndrome International Patient Registry , Project Alive will examine potential associations between approved and experimental therapies and toileting skills among patients with neurocognitive …
Clinical Research
… advocates with researchers, industry, and regulators. Project Alive funds promising curative research, assists researchers and industry with designing research studies for our community, and advocates for the most effective and efficient system of clinical research, evaluation, and approval. Through its innovative campaigns and grassroots efforts, Project Alive has made significant advances in public awareness about Hunter syndrome and its symptoms, the need for early diagnosis, and available treatments and clinical …
How Washington keeps America sick and fat | 11/4/2019
… it requires a complete reboot. They include John Ioannidis, a physician at Stanford University who specializes in data science and clinical research, and is among the best-known critics of scientific methodology. figure class=”story … the country. The agency has a legislative mandate to fund rare disease research, for instance, although it may appear disproportionate to its posted burden. Within NIH, the fall of nutrition research goes beyond funding, which …
National Institutes of Health
How Washington keeps America sick and fat | 11/4/2019
… data science and clinical research, and is among the best-known critics of scientific methodology. figure class=”story-photo” The National Institutes of Health central administration building in Bethesda, Md. Pablo Martinez Monsivais/AP Photo … the country. The agency has a legislative mandate to fund rare disease research, for instance, although it may appear disproportionate to its posted burden. Within NIH, the fall of nutrition research goes beyond funding, which …
… National Institutes of Health, is among the largest ever received by Cincinnati Children’s. The first year of funding for Cincinnati Children’s role was announced today along with grants to 20 other research centers participating in the Rare Diseases Clinical Research Network (RDCRN) . The funds will be used to ensure that rare disease research studies are more efficient, effective, and more often lead to healthcare improvements. The Coordinating Center will facilitate …
Patient Community
2019 NORD Summit Breaks Records with Largest Attendance Ever! | PR Newswire | 10/23/2019
… from the Summit included panels featuring key opinion leaders, an NIH conversation on why it is a unique moment for rare disease research, a town hall with the three FDA Center Directors and an interactive … organizations on specific causes of importance to the rare disease patient community. Visit rarediseases.org . SOURCE National Organization for Rare Disorders (NORD) Related Links http://www.rarediseases.org …
Barth Syndrome Foundation Appoints New Director of Research, Erik Lontok PhD | PRWeb | 8/22/2019
… Article Barth Syndrome Foundation (BSF) announces the appointment of Erik Lontok, PhD, as the Foundation’s Director of Research. Lontok brings rare disease research and patient experience to the organization after serving as the Chief Science … Conference, BSF has been instrumental in poising the research and patient community for translational and clinical science,” states Lontok. “Central to the success of BSF is the sense of community and partnership demonstrated by patients …
Clinical Trials Data
BRISBANE, Calif. & NEW YORK- Sangamo Therapeutics, Inc. (NASDAQ: SGMO), a genomic medicine company, and Pfizer, Inc. (NYSE: PFE) today announced updated results from the Phase 1/2 Alta study evaluating investigational SB-525 gene therapy for severe hemophilia A. The data showed that SB-525 was generally well-tolerated and demonstrated a dose-dependent increase in Factor VIII (FVIII) activity levels. The first two patients treated at the 3e13 vg/kg …
Weather AP Sangamo and Pfizer Announce Updated Phase 1/2 Results for SB-525 Investigational Hemophilia A Gene Therapy Showing Sustained Increased Factor VIII Levels Jul 5, 2019 Save BRISBANE, Calif. & NEW YORK–(BUSINESS WIRE)–Jul 5, 2019– Sangamo Therapeutics, Inc. (NASDAQ: SGMO), a genomic medicine company, and Pfizer, Inc. (NYSE: PFE) today announced updated results from the Phase 1/2 Alta study evaluating investigational SB-525 gene therapy for severe hemophilia …
Pfizer
Weather AP Vivet Therapeutics and Pfizer Inc. Enter into Manufacturing Agreement for Vivet’s Investigational Gene Therapy for Wilson Disease Sep 23, 2020 Save PARIS & NEW YORK–(BUSINESS WIRE)–Sep 23, 2020– Vivet Therapeutics (“Vivet”), a … new therapies for patients,” said Seng Cheng, Chief Scientific Officer, Rare Disease Research Unit, Pfizer. About Vivet Therapeutics Vivet Therapeutics is an emerging biotechnology company developing novel gene therapy treatments for rare, inherited metabolic diseases …
Weather AP Vivet Therapeutics and Pfizer Inc. Enter into Manufacturing Agreement for Vivet’s Investigational Gene Therapy for Wilson Disease Sep 23, 2020 Save PARIS & NEW YORK–(BUSINESS WIRE)–Sep 23, 2020– Vivet Therapeutics (“Vivet”), a … new therapies for patients,” said Seng Cheng, Chief Scientific Officer, Rare Disease Research Unit, Pfizer. About Vivet Therapeutics Vivet Therapeutics is an emerging biotechnology company developing novel gene therapy treatments for rare, inherited metabolic diseases …
Therachon
Pfizer Completes Acquisition of Therachon - news - GVTC | 7/1/2019
… Pfizer Inc. (NYSE: PFE) today announced the successful completion of its acquisition of the privately held clinical-stage biotechnology company Therachon Holding AG. Under the terms of the transaction, Pfizer acquired Therachon for $340 million … Cheng, Senior Vice President and Chief Scientific Officer of Pfizer’s Rare Disease Research Unit. “With our leading scientific and development capabilities, we believe we can effectively advance the development of TA-46, which has the …
Pfizer Completes Acquisition of Therachon - news - Suddenlink | 7/1/2019
… Pfizer Inc. (NYSE: PFE) today announced the successful completion of its acquisition of the privately held clinical-stage biotechnology company Therachon Holding AG. Under the terms of the transaction, Pfizer acquired Therachon for $340 million … Cheng, Senior Vice President and Chief Scientific Officer of Pfizer’s Rare Disease Research Unit. “With our leading scientific and development capabilities, we believe we can effectively advance the development of TA-46, which has the …
Seng Cheng
… Seng Cheng, Chief Scientific Officer, Rare Disease Research Unit, Pfizer. About Vivet Therapeutics Vivet Therapeutics is an emerging biotechnology company developing novel gene therapy treatments for rare, inherited metabolic diseases. Vivet is building a diversified gene therapy pipeline based on novel adeno-associated virus (AAV) technologies developed through its partnerships with, and exclusive licenses from, the Fundación para la Investigación Médica Aplicada (FIMA), a not-for-profit foundation at the …
… Seng Cheng, Chief Scientific Officer, Rare Disease Research Unit, Pfizer. About Vivet Therapeutics Vivet Therapeutics is an emerging biotechnology company developing novel gene therapy treatments for rare, inherited metabolic diseases. Vivet is building a diversified gene therapy pipeline based on novel adeno-associated virus (AAV) technologies developed through its partnerships with, and exclusive licenses from, the Fundación para la Investigación Médica Aplicada (FIMA), a not-for-profit foundation at the …
Jude Samulski
… Jude Samulski, PhD, Chief Scientific Officer and co-founder of AskBio, Anna will lead the company’s research and translational collaborations to deliver clinical candidate vectors. An industry veteran with more than 30 years of research and development and translational medicine experience, Dr. Tretiakova has spent nearly 10 years exclusively focused on AAV gene therapy at the University of Pennsylvania Gene Therapy Program, Pfizer Rare Disease Research Unit and, most recently …
… Jude Samulski, PhD, Chief Scientific Officer and co-founder of AskBio, Anna will lead the company’s research and translational collaborations to deliver clinical candidate vectors. An industry veteran with more than 30 years of research and development and translational medicine experience, Dr. Tretiakova has spent nearly 10 years exclusively focused on AAV gene therapy at the University of Pennsylvania Gene Therapy Program, Pfizer Rare Disease Research Unit and, most recently …
Amy Abernethy
FDA Awards $4.1 Million In Funding For Rare Disease Research | Forbes | 10/15/2019
… for less common, albeit just as serious, health illnesses. “The FDA is committed to funding these important studies in order to define how rare diseases develop and progress,” said FDA Principal Deputy Commissioner Amy Abernethy, M.D., Ph.D. in a press release. “Further, these studies provide important roadmaps for how to conduct subsequent studies. With the natural history of many rare diseases remaining relatively unknown, efficiently developing diagnostics and therapies for …
FDA Awards $4.1 Billion In Funding For Rare Disease Research | Forbes | 10/14/2019
… for less common, albeit just are serious, health illnesses. “The FDA is committed to funding these important studies in order to define how rare diseases develop and progress,” said FDA Principal Deputy Commissioner Amy Abernethy, M.D., Ph.D. “Further, these studies provide important roadmaps for how to conduct subsequent studies. With the natural history of many rare diseases remaining relatively unknown, efficiently developing diagnostics and therapies for patients poses unique challenges …
About:
Editor:
