Rare Disease Research
… 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 …
… million Americans living with rare diseases, today announced the availability of three new funding opportunities to support the study of two rare diseases. The initial application deadline is August 25, 2020 . NORD’s Jayne Holtzer Rare Disease Research Grants Program Rare Disease Research Grant Program is accepting proposals for scientific and/or clinical research studies of: Appendix Cancer and Pseudomyxoma Peritonei (PMP) — Two grants of up to $50,000 (US) each Neuroendocrine …
… million Americans living with rare diseases, today announced the availability of three new funding opportunities to support the study of two rare diseases. The initial application deadline is August 25, 2020 . NORD’s Jayne Holtzer Rare Disease Research Grants Program Rare Disease Research Grant Program is accepting proposals for scientific and/or clinical research studies of: Appendix Cancer and Pseudomyxoma Peritonei (PMP) — Two grants of up to $50,000 (US) each Neuroendocrine …
Efficacy of Gene Therapy SB-525 Now at 14 Months in Alta Hemophilia A Trial | 6/19/2020
… experienced bleeding episodes or required replacement therapy with FVIII. “We are excited that these data affirm previous findings from this Phase 1/2 study,” Seng Cheng, senior vice president and chief scientific officer of Pfizer’s Rare Disease Research Unit, said in a press release . “We are encouraged by the potential of giroctocogene fitelparvovec [SB-525] to demonstrate longer-term durability, an important element for patients living with severe hemophilia A.” Updated …
… encouraged by the potential of giroctocogene fitelparvovec to demonstrate longer-term durability, an important 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 forward to dosing patients with this investigational gene therapy in the pivotal Phase 3 trial later this year.” “The current standard …
… about PRO measures in rare diseases has risen in the past fifteen years, our results indicate that substantial improvements are needed to achieve patient-centricity. Conclusions The nature and extent of patient engagement in rare disease research is under-documented. The current paradigm for developing and using PRO measures in clinical research is failing to meet the needs of rare disease patients. Not only are PROs rarely used as high …
… we believe we may have a potential breakthrough therapy for boys with Duchenne muscular dystrophy, a devastating disease for which there remains a significant 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 of 2020 pending regulatory approval. Our program has the potential to …
Global Genes works to overcome barriers in rare-disease trials | 3/31/2020
… standard of care as well as research opportunities that may help improve their lives. OSP: Could you also tell us about some of the problems associated with rare-disease research? MMH: The challenges with rare disease research often come down to small numbers: Limited funding: For many rare diseases, there is very limited funding for research. Often, that limited funding is being raised by the patients and advocates themselves. Small …
Global Rare Disease Group’s Focus: 1,000 New Therapies by 2027, Despite COVID-19 | 3/26/2020
… in 2011 by the European Union and the U.S. National Institutes of Health (NIH) — falls under the umbrella of the European Joint Programme on Rare Diseases (EJP RD). Italy’s Lucia Monaco chairs the International Rare Disease Research Consortium. (Photo courtesy of IRDiRC) The IRDiRC had planned to host 200 experts at a March 12–13 rare disease conference in Berlin. But, like every other medical event in Europe, that much …
… 600 have a treatment or cure. Because rare diseases affect very small populations, it 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 that patients have access to the most innovative therapies.” Biocom 2020 Fly-In participants advocated for protecting the Orphan Drug Act …
Rubius scraps lead candidate as it exits rare disease drugmaking | 3/12/2020
share Dive Brief: Rubius Therapeutics will end development of its most advanced drug as the Cambridge, Massachusetts-based biotech looks to save money by moving away from rare disease research . The decision, according to Rubius , is partially due to setbacks that stung its lead drug, an experimental treatment for the uncommon metabolic disorder phenylketonuria, or PKU. An early study of the drug had a delayed start, and then results from …
… 600 have a treatment or cure. Because rare diseases affect very small populations, it 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 that patients have access to the most innovative therapies.” Biocom 2020 Fly-In participants advocated for protecting the Orphan Drug Act …
Senior Associate Scientist (Ex-Vivo Biology), Gene Therapy - Pfizer - Cambridge, MA | 3/8/2020
Share Description Role Summary Pfizer’s Rare Disease Research Unit (RDRU) is focused on developing therapeutic solutions for patients with rare disorders. We are seeking a laboratory-based Senior Associate Scientist to execute preclinical experiments in support of the RDRU gene therapy portfolio related to neurological and metabolic disease. This role will have a strong focus on ex-vivo recombinant adeno-associated viral (AAV) vector biodistribution and transduction assessments in preclinical …
Josh Gottheimer’s proposed legislation would boost research on rare diseases | 3/7/2020
FAIR LAWN — Legislation aiming to restore an incentive for rare disease research was announced Friday in a roundtable discussion with members of the community whom it would affect most. The legislation, called Cameron’s Law, would reinstitute a tax credit for research that was cut in half under the 2017 federal tax overhaul. Rep. Josh Gottheimer, D-Wyckoff, will formally introduce the bipartisan bill with Rep. Fred Upton of Michigan this …
The Michigan Medicine blog recap | 3/6/2020
… Complex Heart Disease A Michigan Medicine cardiologist shares important information about Loeys-Dietz Syndrome and the progress being made in diagnosing and treating this disease. READ MORE 10 Studies That Highlight the Importance of Rare Disease Research When researchers study rare diseases, breakthroughs can be made that help patients. Revisit studies that are putting genetic puzzle pieces together to tackle these conditions. READ MORE The Reality of Being Rare Living …
PCORI Earmarks $195M for Patient-Centered Research Projects | Patient Engagement HIT | 3/6/2020
… include refining study questions, stakeholder engagement, feasibility testing, and infrastructure building. PCORI will then award the second phase of funding if that first phase is completed satisfactorily. The organization also slated $25 million for rare disease research using PCORnet, which is the National Patient-Centered Clinical Research Network. Another $20 million will fund studies looking at newer and older medications for treating type 2 diabetes in individuals with cardiovascular risk …
Using Historical Controls in Rare Disease Clinical Trials: Challenges and Opportunities, free webinar, the featured speaker, Dr. William C Maier, Chief Scientific Officer and Head of Rare Disease Research , Commercialisation and Outcomes Services at ICON, will provide an overview of the use of historical control populations in rare disease drug development and approval. An alternative to a placebo control group is the use of existing medical history information on a …
… 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, SwanBio Therapeutics. “Broadening our research and development team is critical to achieving our mission to transform genetic medicine, and we are excited to add Anna’s expertise moving AAV programs …
Novoheart Holdings Inc. Reports First Quarter 2020 Financial Results | Globe Newswire | 11/20/2019
… Phase II in August 2019. Publication of two peer-reviewed scientific manuscripts from research contracts with Pfizer In Q1 2020, Novoheart published results from 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 issue of Clinical Pharmacology and Therapeutics, demonstrates the strong predictive capabilities …
… Phase II in August 2019. Publication of two peer-reviewed scientific manuscripts from research contracts with Pfizer In Q1 2020, Novoheart published results from 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 issue of Clinical Pharmacology and Therapeutics, demonstrates the strong predictive capabilities …
DOVER, Mass. Backpack Health , a free mobile and web-based multilingual digital 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 …
Wearable technology is revolutionizing the patient – and researcher – experience - STAT | 11/19/2019
… to collect this information, but wearable devices would enable accurate tracking and quantification of scratch data in a patient-centric manner.” Outside the PfIRe Lab, Debbie Pittman, a hematology lead research fellow in Pfizer’s Rare Disease research unit, is using devices — including an activity watch and an electronic diary — to help understand the unmet needs of patients with sickle cell disease. Pittman notes the goal of this natural history study …
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 …
Gene Therapy
… 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 …
NIH
… 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 …
Biotech
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 …
Clinical Pharmacology
Novoheart Holdings Inc. Reports First Quarter 2020 Financial Results | Globe Newswire | 11/20/2019
… 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 issue of Clinical Pharmacology and Therapeutics, demonstrates the strong predictive capabilities of Novoheart’s human ventricular cardiac tissue strips (hvCTS) and cardiac organoid chambers (hvCOC, aka “human heart-in-a-jar”) from the MyHeart TM Platform, which together provide a two-tiered screening strategy that can …
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 …
Patient Registry
… 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 and attenuated forms of Hunter syndrome. “Our focus on patient empowerment recognizes that patients and caregivers often …
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 …
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 …
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 …
Food and Drug Administration
FDA Boosts Rare Disease Research with $15 Million in Grants | BioSpace | 10/9/2019
FDA Boosts Rare Disease Research with $15 Million in Grants Published: Oct 09, 2019 By Alex Keown The U.S. Food and Drug Administration (FDA) awarded $15 million in grants to fund 12 new clinical trials over the next four years to foster the development of rare disease treatments. The grants were awarded through the FDA’s Orphan Products Clinical Trials Grants Program that was provided by Congress to specifically encourage the …
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 …
Pfizer
NEW YORK & BRISBANE, Calif.- Pfizer Inc. (NYSE: PFE) and Sangamo Therapeutics, Inc. (Nasdaq: SGMO), a genomic medicine company, today announced updated follow-up data from the Phase 1/2 Alta study of giroctocogene fitelparvovec (SB-525 … 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 …
NEW YORK & BRISBANE, Calif.- Pfizer Inc. (NYSE: PFE) and Sangamo Therapeutics, Inc. (Nasdaq: SGMO), a genomic medicine company, today announced updated follow-up data from the Phase 1/2 Alta study of giroctocogene fitelparvovec (SB-525 … 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 …
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 …
Atlas Venture
… who has been with the firm since 2015 and was previously Senior Vice President and Chief Scientific Officer of the Rare Disease Research Unit at Pfizer ( PFE ). Based on monoclonal antibodies science conducted by Sir … Ventures HC, SR One, SV Health Investors, Novartis Ventures Fund, Atlas Venture, and Vertex Ventures among others. Source: Crunchbase Market And Competition According to a 2018 market research report by Mordor Intelligence, the global CAGR …
… who has been with the firm since 2015 and was previously Senior Vice President and Chief Scientific Officer of the Rare Disease Research Unit at Pfizer ( PFE ). Based on monoclonal antibodies science conducted by Sir … Ventures HC, SR One, SV Health Investors, Novartis Ventures Fund, Atlas Venture, and Vertex Ventures among others. Source: Crunchbase Market & Competition According to a 2018 market research report by Mordor Intelligence, the global CAGR for …
Massachusetts General Hospital
How Washington keeps America sick and fat - POLITICO | 11/4/2019
… fewer people are often devastating and costly for patients and 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 … Nathan, director of the clinical research and diabetes centers at Massachusetts General Hospital and a professor at Harvard Medical School. “Pharma doesn’t support that because there is no drug to be sold.” Before the elimination …
Crowdsourcing to Fund Rare Disease Research - - OpenPaper | 7/15/2019
Crowdsourcing to Fund Rare Disease Research By Nicole Henwood, MD, president and CEO, NF2 BioSolutions, West Chester, PA. UpToDate: “Neurofibromatosis type 2.” National Institutes of Health: “Rare Disease Clinical Research Network.” Lancet: “Spotlight on Rare … Station, PA. Gary Brenner, MD, PhD, director, Pain Medicine Fellowship, Massachusetts General Hospital; associate professor, Harvard Medical School. Cancer Gene Therapy : “Schwannoma gene therapy by adeno-associated virus delivery of the pore-forming protein Gasdermin …
Seng Cheng
… 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 forward to dosing patients with this investigational gene therapy in the pivotal Phase 3 trial later this year.” “The current standard of care for severe hemophilia A requires regular infusions to replace missing Factor VIII. Gene therapy, on the other hand, offers a new …
… 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 forward to dosing patients with this investigational gene therapy in the pivotal Phase 3 trial later this year.” “The current standard of care for severe hemophilia A requires regular infusions to replace missing Factor VIII. Gene therapy, on the other hand, offers a new …
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 Boosts Rare Disease Research with $15 Million in Grants | 10/9/2019
FDA Boosts Rare Disease Research with $15 Million in Grants FDA Boosts Rare Disease Research with $15 Million in Grants Written by: BioSpace Dated: Wednesday, October 9th, 2019 By Alex Keown The U.S. Food and … rare disease experts, the agency said. FDA Principal Deputy Commissioner Amy Abernethy said the regulatory agency has provided “much-needed financial support” to clinical trials for rare disease treatments for more than three decades. Over …
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