| 1/28/2021 |
Patient Data Registry Approach May Enhance Rare Disease Research |
HealthIT Analytics |
Tools & Strategies News Patient Data Registry Approach May Enhance Rare Disease Research A new type of patient data registry could provide researchers with quality information on rare diseases, accelerating treatment development. Source: ThinkstockByJanuary 28, 2021 - Researchers at the Perelman School of Medicine at the University of Pennsylvania have designed a new kind of patient data registry to advance rare disease research.In a paper published in Cell Reports ... |
| 1/8/2021 |
Sarepta gene therapy misses goal in key muscular dystrophy study |
biopharmadive.com |
... doctors who hope the therapy could be a one-time treatment for the fatal genetic condition.The result is from one of the most closely watched clinical trials in gene therapy and, more broadly, rare disease research . Sarepta has been racing to prove its gene therapy can help halt and even reverse the steady muscle degeneration brought on by the disease. The Cambridge, Massachusetts-based biotech company's setback came the ... |
| 11/23/2020 |
FOXG1 Research Foundation to Pioneer a Machine Learning Approach to Accelerate Rare Disease Research with Support From the Chan Zuckerberg Initiative | Business & Finance | heraldchronicle.com |
PR Newswire |
... and retention. Costs to patient organizations for studies can exceed $10,000 per subject per year and participants typically do not have access to study results — all limiting patients' access to and engagement in rare disease research.Thanks to two years of planning and this grant from CZI, the FOXG1 Research Foundation is launching a groundbreaking study using technology and machine learning to supplement the current NHS model by digitally ... |
| 11/21/2020 |
First-Ever Treatment for Rare Rapid-Aging Disease Progeria Receives U.S. FDA Approval |
BioSpace |
... Drug Administration (FDA) approval of Zokinvy‚Ñ¢ (lonafarnib), for the treatment of Progeria and processing-deficient Progeroid Laminopathies (PL). Progeria is an ultra-rare, fatal pediatric rapid-aging disease. PRF, a pioneer in the rare disease research foundation space, has led Zokinvy clinical trial research since 2007.Zokinvy is a farnesyltransferase inhibitor (FTI) that has shown survival benefit in children with Progeria. Data based on information from the PRF International ... |
| 11/20/2020 |
First-Ever Treatment for Rare Rapid-Aging Disease Progeria Receives U.S. FDA Approval |
ask.com |
... Drug Administration (FDA) approval of Zokinvy‚Ñ¢ (lonafarnib), for the treatment of Progeria and processing-deficient Progeroid Laminopathies (PL). Progeria is an ultra-rare, fatal pediatric rapid-aging disease. PRF, a pioneer in the rare disease research foundation space, has led Zokinvy clinical trial research since 2007.Zokinvy is a farnesyltransferase inhibitor (FTI) that has shown survival benefit in children with Progeria. Data based on information from the PRF International ... |
| 11/13/2020 |
New Treatments Offer Hope for Spinal Muscular Atrophy Patients |
usmedicine.com |
... and Drug Administration and at least five more have begun clinical trials.The dramatic shift may be attributed to two transformative trends. Turbocharged by social media platforms, efforts by patients, caregivers, advocacy organizations and rare disease research foundations to connect with each other, give greater voice to their issues, and attract researchers and investment have seen unprecedented success over the last decade. At the same time, breakthroughs in genetic analysis ... |
| 11/10/2020 |
Pfizer invests in Homology and adds to its gene therapy ambitions |
biopharmadive.com |
... is the latest by Pfizer to add to its growing gene therapy presence, which has been built through a steady stream of acquisitions and licensing deals. Seng Cheng, the chief scientific officer of Pfizer's rare disease research unit, will join Homology's scientific advisory board to help with development of HMI-102 for adults with PKU and HMI-103 for pediatric patients. Dive Insight:The investment gives Pfizer right of first ... |
| 10/26/2020 |
CANbridge Pharmaceuticals Appoints Head of Global Research |
intellasia.net |
... be based at the CANbridge US headquarters in Cambridge, Massachusetts.“Yunxiang comes to CANbridge on the heels of our second rare disease gene therapy Research Agreement with UMass Medical School, underscoring our commitment to rare disease research and developing a world-class CANbridge research capability, particularly in biologics and gene therapy,” said James Xue, PhD, CANbridge Founder, Chairman and CEO. “He will be instrumental in expanding our US-based global ... |
| 10/26/2020 |
CANbridge Pharmaceuticals Appoints Head of Global Research |
BioSpace |
Yunxiang comes to CANbridge on the heels of our second rare disease gene therapy Research Agreement with UMass Medical School, underscoring our commitment to rare disease research and developing a world-class CANbridge research capability, particularly in biologics and gene therapy,” said James Xue, PhD, CANbridge Founder, Chairman and CEO. “He will be instrumental in expanding our US-based global research programs and driving our strategy of in-China development ... |
| 9/29/2020 |
Treatment-resistant rare diseases: exploring landmark drug approvals in 2020 |
nridigital.com |
... who so desperately need them.” Barriers to drug developmentThere 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 ... |
| 9/10/2020 |
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malvern-online.com |
... 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 ... |
| 9/10/2020 |
2020 NORD Summit to Feature Leading Experts in Public Policy, Patient Advocacy, Rare Disease Research and Regulatory Science |
PR Newswire |
... 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 ... |
| 9/10/2020 |
2020 NORD Summit to Feature Leading Experts in Public Policy, Patient Advocacy, Rare Disease Research and Regulatory Science |
BioSpace |
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 ... |
| 9/8/2020 |
Africa’s Missing Genomic Data and Its Impact on Health Care |
genengnews.com |
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 ... |
| 9/8/2020 |
Africa’s Missing Genomic Data and Its Impact on Health Care |
genengnews.com |
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 ... |
| 9/8/2020 |
A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS |
plos.org |
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 ... |
| 8/28/2020 |
Stakeholders Call for Regulatory Harmonization, Clarity in FDA’s Rare Disease Research Network | 2020-09-01 | CenterWatch |
centerwatch.com |
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 ... |
| 8/24/2020 |
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations |
biomedcentral.com |
... 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 ... |
| 8/18/2020 |
Phase 3 Trial of Pamrevlumab Enrolling DMD Patients Unable to Walk |
musculardystrophynews.com |
... 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 ... |
| 8/17/2020 |
Stakeholders Call for Regulatory Harmonization, Clarity in FDA’s Rare Disease Research Network | 2020-08-16 | CenterWatch |
centerwatch.com |
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 ... |