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Category Archives: Genetic Medicine
Ovid Therapeutics Announces Strategic Research Collaboration Focused on Accelerating the Development of New Treatments for Rare Neurological Diseases…
NEW YORK, June 11, 2020 (GLOBE NEWSWIRE) -- Ovid Therapeutics Inc.(NASDAQ: OVID), a biopharmaceutical company committed to developing medicines that transform the lives of people with rare neurological diseases, today announced a strategic research collaboration with Columbia University Irving Medical Center researchers (Columbia) to advance genetic based therapies for a range of rare neurological conditions, complementary to Ovids current pipeline. This collaboration provides Ovid with the potential to expand its future drug development portfolio and impact individuals living with rare genetic neurological conditions.
Under this research and translational development alliance, Columbia will align its expertise in rare disease genetics and deep clinical understanding of rare neurological diseases with Ovids discovery, translational, and clinical development expertise in neurodevelopmental disorders and rare epilepsies. Ovid will work closely with Wendy K. Chung, M.D., Ph.D., the Chief of Clinical Genetics, and leader of the Precision Medicine Resource in the Irving Institute at Columbia University Irving Medical Center. Dr. Chung is a recognized genetics leader with over 20 years of experience in human genetic research of monogenic and complex traits, mapping and cloning genes in humans, and describing the clinical characteristics and natural history of novel genetic conditions. A 2019 National Organization for Rare Disorders (NORD) Rare Impact Award Honoree, Dr. Chung is also a leader and advocate within the rare disease patient community.
Under the collaboration, Ovid will work together with Columbia scientists to identify molecular targets for developing genetic/molecular therapeutic approaches for rare neurological conditions such as KIF1A-associated neurological disorder (KAND) and other rare conditions.
Ovid has made significant progress in all its late stage clinical programs. We are excited to see multiple read outs of clinical data throughout the year. Its time to begin to build our pipeline for our long-term future in a disciplined and strategic fashion. This next step is built on, and will complement, the important programs we already have in place, said Amit Rakhit, M.D., MBA, President and Chief Medical Officer of Ovid Therapeutics. Joining forces with Columbia and Dr. Chung, a world-class clinical geneticist, will enable Ovid to begin to build a robust gene and molecular therapy platform for the future treatment of inherited neurological conditions.
My laboratory is committed to discovering innovative new targets and therapies to address rare neurological diseases with few or no treatment options, said Dr. Chung. This alliance is further evidence of Columbias unwavering commitment to enabling groundbreaking research and developing cutting-edge technologies to treat neurological conditions. We are excited to partner with Ovid and the patient community to help advance these programs into clinical trials for development of new potential therapies.
About Ovid TherapeuticsOvid Therapeutics Inc. is a New York-based biopharmaceutical company using its BoldMedicine approach to develop medicines that transform the lives of patients with rare neurological disorders. Ovid has a broad pipeline of potential first-in-class medicines. The Companys most advanced investigational medicine, OV101 (gaboxadol), is currently in clinical development for the treatment of Angelman syndrome and Fragile X syndrome. Ovid is also developing OV935 (soticlestat) in collaboration with Takeda Pharmaceutical Company Limited for the potential treatment of rare developmental and epileptic encephalopathies (DEE). For more information on Ovid, please visit http://www.ovidrx.com/.
Forward-Looking Statements This press release includes certain disclosures that contain forward-looking statements, including, without limitation, statements regarding: advancing and commercializing Ovids product candidates, progress, timing, scope and thedevelopment andpotential benefitsofOvids product candidates; and the anticipated reporting schedule of clinical data regarding Ovids product candidates. You can identify forward-looking statements because they contain words such as will,appears,believes and expects. Forward-looking statements are based on Ovids current expectations and assumptions. Because forward-looking statements relate to the future, they are subject to inherent uncertainties, risks and changes in circumstances that may differ materially from those contemplated by the forward-looking statements, which are neither statements of historical fact nor guarantees or assurances of future performance. Important factors that could cause actual results to differ materially from those in the forward-looking statements includeuncertainties in the development and regulatory approval processes,andthe fact that initial data from clinical trials may not be indicative, and are not guarantees, of the final results of the clinical trials and are subject to the risk that one or more of the clinical outcomes may materially change as patient enrollment continues and/or more patient data become available. Additional risks that could cause actual results to differ materially from those in the forward-looking statements are set forth in Ovids filings with theSecurities and Exchange Commissionunder the caption Risk Factors.Such risks may be amplified by the COVID-19 pandemicand its potential impact on Ovids businessand theglobal economy.Ovid assumes no obligation to update any forward-looking statements contained herein to reflect any change in expectations, even as new information becomes available.
Investors and Media:Ovid Therapeutics Inc.Investor Relations & Public Relationsirpr@ovidrx.com
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Patients with COVID-19 donate specimens to advance research efforts Washington University School of Medicine in St. Louis – Washington University…
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Biorepository project initiated early in pandemic to streamline coronavirus research efforts
Philip Mudd, MD, PhD, picks up research samples at the BJC Institute of Health at Washington University School of Medicine in St. Louis. Mudd, an emergency medicine physician, and his colleague, Jane O'Halloran, MD, PhD, an infectious diseases specialist, have led efforts to create a repository for storing and managing specimens collected from patients with COVID-19. The samples, including blood, urine and saliva specimens, are being distributed to investigators conducting COVID-19 research across the university.
In the weeks before the St. Louis region saw its first patients with COVID-19, physician-scientists at Washington University School of Medicine began planning and preparing how best to collect blood and other biological samples from such patients so specimens could be quickly disseminated to researchers seeking strategies to treat, prevent and contain the novel coronavirus.
With financial support from The Foundation for Barnes-Jewish Hospital and Washington Universitys Institute of Clinical and Translational Sciences (ICTS), as well as input from the Community Advisory Board of Washington Universitys Institute for Public Health and ICTS, the School of Medicine created a repository to store and manage specimens collected from adult and pediatric patients who have tested positive for SARS-CoV-2 the virus that causes COVID-19. The sample-collection efforts are led by Philip Mudd, MD, PhD, an assistant professor of emergency medicine, and Jane OHalloran, MD, PhD, an assistant professor of medicine.
To date, more than 350 patients have donated samples for the research effort, and over 7,000 samples have been distributed to more than 20 labs on the School of Medicine and Danforth campuses to help understand the basic biology of the infection and seek ways to prevent or treat it.
The biorepository is an important resource for scientists working in many different areas of COVID-19 research, Mudd said. We are hopeful that the analysis of these samples will speed the development of treatments and new diagnostics that will help patients in St. Louis and around the world. Were grateful for the support of the foundations donors and for the generosity of our patients and are optimistic that this work will lead to new and useful breakthroughs in the treatment of COVID-19.
According to the investigators, collecting such samples including blood, urine, stool and nasal swabs via one centralized process speeds research, prevents scientists from duplicating work already underway and relieves patients of the burden of being asked to participate in multiple studies.
The project includes research teams that span the entire university, including investigators who are internationally recognized for their research into other viruses, such as Ebola, SARS, West Nile, Zika and emerging strains of influenza.
Studies underway include research to:
To receive samples for research, investigators must submit an application to a committee that is part of Washington Universitys ICTS, led by William G. Powderly, MD, the J. William Campbell Professor of Medicine and co-director of the universitys Division of Infectious Diseases. The ICTS committee managing patient specimens led by Christina A. Gurnett, MD, PhD, the A. Ernest and Jane G. Stein Professor of Developmental Neurology and director of the Division of Pediatric and Developmental Neurology is fielding many requests and encouraging a team science approach to enhance collaboration and reduce duplication of efforts. The biorepository has already led to new collaborations for researchers with complementary skills.
Its important to streamline this work from a research perspective, but its equally important to ease the process of participation for our patients, OHalloran said. Ordinarily, individual researchers design studies and approach patients separately. Knowing we would have many scientists studying COVID-19, it was critical for us to find a way to facilitate the process of obtaining patient samples. Were grateful to our patients for providing such a valuable resource to help us understand and combat this new virus.
Because some of the research may involve sequencing the DNA of patients with COVID-19 to understand each persons susceptibility to the illness, the researchers consulted the Community Advisory Board for guidance on how to address treatable genetic conditions independent of COVID-19 that might be revealed during the course of the research. The board, made up of 12 people with diverse leadership experience in local health-care and community organizations, provides advice to investigators on the conduct of clinical research involving the local community.
Anytime an individual undergoes whole genome sequencing, even people who may appear perfectly healthy, there is the potential to reveal genetic mutations that indicate a very high risk of developing a disease. Because some genetic conditions have treatments or prevention strategies available, doctors conducting COVID-19 research would like to have the ability to return this important information to patients, with patient permission, in a way that will allow patients and family members to make informed decisions about their health.
As part of studying the genetics of COVID-19, the researchers may learn information about a research participants risk of developing any one of 59 hereditary conditions that lead to very high risk of developing life-threatening but preventable or treatable diseases such as breast cancer, heart arrhythmias or blood-clotting disorders, said advisory board member Doug Lindsay, a personal medical consultant who advises patients with rare diseases or complex conditions. How do you best provide this kind of information if at all to patients or family members who are totally preoccupied with the immediate crisis of COVID-19 illness?
The overall thrust of our advice is, Give patients the choice to know or not know, Lindsay said. We also feel it is best to deliver this information at a later time, to give the patients, or family members if the patient has passed away, a chance to make an appointment to go over follow-up questions about the COVID-19 research study that they or their family members were enrolled in. The genetic studies of COVID-19 can reveal hereditary conditions, so the information is relevant for family members, too. We feel it is important to give people the mental space to deal with major medical decisions independent of the immediate pandemic.
The committee also has recommended that genetic counselors be made available to patients who are found to have any of these 59 conditions and choose to learn their genetic status. The committee also wants to ensure that patients and families know the kinds of medical specialists they should follow up with based on their genetic information.
These questions are about what a healthy relationship between participants and investigators looks like, Lindsay said. Participants who donate their data to these studies are real people. The information that the doctors are identifying may shape lives over more than one generation. We hope this kind of advice can help researchers be good stewards of the information put in their care.
Added Gurnett, The guidance provided by the Community Advisory Board has been critical to helping our investigators and clinicians provide the best possible care and conduct clinical research in the most ethical and respectful ways possible. We thank the patients and their families for their central contributions to the work of understanding this virus, as their participation is key to reducing its impact on our communities.
The Institute of Clinical and Translational Sciences is supported by the National Center for Advancing Translational Sciences of the National Institutes of Health (NIH), grant number UL1 TR002345.
Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, ranking among the top 10 medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.
Eight-year Survivor’s Success with Precision Medicine, Clinical Trial – Pancreatic Cancer News & Stories
Steven Merlin, an eight-year pancreatic cancer survivor, is dedicated to spreading awareness about pancreatic cancer and providing hope for those diagnosed with the disease.
Editors note: Earlier this year, we featured Steven Merlins amazing dedication as a Pancreatic Cancer Action Network (PanCAN) volunteer and patient advocate. Today, during Mens Health Month and as part of a series in honor of National Cancer Survivors Day, we share his treatment story, which highlights the value of precision medicine for pancreatic cancer patients.
Steven Merlin is an eight-year pancreatic cancer survivor who believes that he is doing well today in large part thanks to his treatment regimen which was ahead of its time.
Steven was diagnosed with stage III locally advanced pancreatic acinar cell carcinoma a very rare, highly aggressive form of pancreatic cancer in 2012.
He had surgery not common for someone with his disease stage. But the follow-up chemotherapy treatment, Gemzar, had no impact, and the cancer spread.
So, Steven switched to the chemotherapy FOLFIRINOX, which started shrinking his tumors.
Meanwhile, he saw a geneticist, who found through genetic testing that he had a BRCA2 mutation.
Pancreatic cancer patients who have BRCA mutations may respond particularly well to two types of treatment: platinum-containing chemotherapy (like FOLFIRINOX) and PARP inhibitors (a type of targeted therapy).
But when Steven was being treated, that wasnt widely known. And precision medicine treatment based on a patients biology or the biology of their tumor was not often used for pancreatic cancer at the time.
Nevertheless, the geneticist knew about the treatment approachs potential for Steven and recommended he look for a clinical trial that used a PARP inhibitor. Steven turned to PanCANs Patient Services, who helped him research and connect with trials.
He found one that met all of his needs.
Steven consulted with his primary oncologist as well as the investigator running the trial and decided to continue on FOLFIRINOX until he wasnt benefitting from it anymore.
Then, in October 2014, he switched over to the clinical trial.
Steven was the first patient on the trial. He was also the first patient to have a complete response.
FOLFIRINOX put me into remission, Steven said. The PARP inhibitor kept me there.
Every pancreatic tumor is different. Patients whose treatment aligns with their tumor biology and/or genetic makeup can have improved outcomes. PanCAN strongly recommends molecular profiling and germline (genetic) testing to help determine the best treatment options.
Today, it is more common for pancreatic cancer patients to get treatment based on their tumors biology or their genetic makeup with testing done through their institution or services like PanCANs Know Your Tumor than it was in 2014. There is even a PARP inhibitor approved by the FDA for certain pancreatic cancer patients with BRCA mutations thanks to trailblazers like Steven who participated in clinical trials.
And Steven is dedicated to spreading the word about pancreatic cancer and supporting others diagnosed with the disease.
We all have a purpose, he said. I got my diagnosis and could have said, This is it for me. But I didnt.
An area he is particularly passionate about is advocacy.
For the last three years, he has traveled to Washington, D.C., to meet with his members of Congress and urge them to increase federal research fundingfor the disease as part of National Pancreatic Cancer Advocacy Day.
This year, the event will be a week of virtual activities (June 15-19) and Steven will keep raising his voice to speak up for those diagnosed with pancreatic cancer, now and in the future.
Join Steven for PanCAN Advocacy Week and take quick, easy actions to show Congress the importance of funding pancreatic cancer research. And register today for Mondays free, one-hour virtual kickoff event featuring advocates and special guests Sen. Sheldon Whitehouse (D-RI) and cancer researcher Anirban Maitra, M.B.B.S.
Any treatments, including clinical trials, mentioned in this story may not be appropriate or available for all patients. Doctors take many things into account when prescribing treatments including the stage and type of cancer and the overall health of the patient.
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Eight-year Survivor's Success with Precision Medicine, Clinical Trial - Pancreatic Cancer News & Stories
June 10, 2020 In a new study, Johns Hopkins researchers found that testing people for SARS-CoV-2 (COVID-19) too early in the course of infection is likely to result in a false negative test, even though they may eventually test positive for the virus. This is important to understand since many hospitals are using these COVID tests to screen patients before imaging exams, diagnostic testing or procedures.
The report found even a week after infection, one in five people who had the virus had a negative test result. The findings was published in the May 13 issue of Annals of Internal Medicine.
A negative test, whether or not a person has symptoms, doesnt guarantee that they arent infected by the virus, said Lauren Kucirka, M.D., Ph.D., M.Sc., obstetrics and gynecology resident at Johns Hopkins Medicine. How we respond to, and interpret, a negative test is very important because we place others at risk when we assume the test is perfect. However, those infected with the virus are still able to potentially spread the virus.
Kucirka said patients who have a high-risk exposure should be treated as if they are infected, particularly if they have symptoms consistent with COVID-19. This means communicating with patients about the tests shortcomings. One of several ways to assess for the presence of SARS-CoV-2 infection is a method called reverse transcriptase polymerase chain reaction (RT-PCR). These tests rapidly make copies of and detect the viruss genetic material. However, as shown in tests for other viruses such as influenza, if a swab misses collecting cells infected with the virus, or if virus levels are very low early during the infection, some RT-PCR tests can produce negative results. Since the tests return relatively rapid results, they have been widely used among high-risk populations such as nursing home residents, hospitalized patients and healthcare workers. Previous studies have shown or suggested false negatives in these populations.
For the new analysis, Johns Hopkins Medicine researchers reviewed RT-PCR test data from seven prior studies, including two preprints and five peer-reviewed articles. The studies covered a combined total of 1,330 respiratory swab samples from a variety of subjects including hospitalized patients and those identified via contact tracing in an outpatient setting.
Using RT-PCR test results, along with reported time of exposure to the virus or time of onset of measurable symptoms such as fever, cough and breathing problems, the researchers calculated the probability that someone infected with SARS-CoV-2 would have a negative test result when they had the virus infection. In the published studies, healthcare providers collected nasal and throat samples from patients and noted the time of virus exposure or symptom onset and sample collection.
From this data, the Johns Hopkins researchers calculated daily false-negative rates, and have made their statistical code and data publicly available so results can be updated as more data are published.
The researchers estimated that those tested with SARS-CoV-2 in the four days after infection were 67 percent more likely to test negative, even if they had the virus. When the average patient began displaying symptoms of the virus, the false-negative rate was 38 percent. The test performed best eight days after infection (on average, three days after symptom onset), but even then had a false negative rate of 20 percent, meaning one in five people who had the virus had a negative test result.
We are using these tests to rule out COVID-19, and basing decisions about what steps we take to prevent onward transmission, such as selection of personal protective equipment for healthcare workers, Kucirka explained. As we develop strategies to reopen services, businesses and other venues that rely on testing and contact tracing, it is important to understand the limitations of these tests.
Ongoing efforts to improve tests and better understand their performance in a variety of contexts will be critical as more people are infected with the virus and more testing is required. The sooner people can be accurately tested and isolated from others, the better we can control the spread of the virus, the researchers said.
Another John Hopkins study in March found the average incubation period for COVID-19 was approximately five days. This was originally used as a guide by some in developing quarantine guidelines. However, this new study shows that test COVID PCR test results are not reliable for a firm diagnosis until well after a week of infection.
Additional authors include Denali Boon, Stephen Lauer, Oliver Layendecker and Justin Lessler and of Johns Hopkins.
Funding for the study was provided by the National Institute of Allergy and Infectious Diseases (R01AI135115 and T32DA007292), the Johns Hopkins Health System and the U.S. Centers for Disease Control and Prevention (NU2GGH002000).
1. Lauren M. Kucirka, Stephen A. Lauer, Oliver Laeyendecker, et al. Variation in False-Negative Rate of Reverse Transcriptase Polymerase Chain ReactionBased SARS-CoV-2 Tests by Time Since Exposure. Annuals of Internal Medicine. May 13, 2020. doi.org/10.7326/M20-1495.
2. Stephen A. Lauer, Kyra H. Grantz, Qifang Bi, et al. The Incubation Period of Coronavirus Disease 2019 (COVID-19) From Publicly Reported Confirmed Cases: Estimation and Application. Ann Intern Med. 2020 Mar 10 : M20-0504. Published online 2020 Mar 10. doi: 10.7326/M20-0504.
Read more from the original source:
COVID-19 Genetic PCR Tests Give False Negative Results if Used Too Early - Imaging Technology News
Affinia Therapeutics Announces Appointment of Elliott Sigal, MD, Ph.D. to the Company’s Board of Directors – GlobeNewswire
WALTHAM, Mass., June 08, 2020 (GLOBE NEWSWIRE) -- Affinia Therapeutics, an innovative gene therapy company with a platform for rationally designed adeno-associated virus (AAV) vectors and gene therapies, announced today the appointment of Elliott Sigal, M.D., Ph.D., to the companys Board of Directors. Dr. Sigal has more than 25 years of leadership experience in the biopharmaceutical industry and is the former Chief Scientific Officer and President of R&D for Bristol Myers Squibb.
As a trailblazer in the biopharmaceutical industry, Dr. Sigal has demonstrated a track record of bringing transformative medicines to patients, said Rick Modi, Chief Executive Officer at Affinia Therapeutics. We look forward to the counsel he will provide to advance our platform and investigational product candidates toward the clinic and the patients who need them most.
Dr. Sigal is a former member of the Board of Directors of Spark Therapeutics. During his tenure from 2014 to 2019, the companys lead product, LUXTURNA was approved as the first AAV gene therapy in the United States. The company was acquired by Roche in 2019.
Prior to Spark Therapeutics, Dr. Sigal was an Executive Vice President and Director of Bristol Myers Squibb. While at BMS, he led the team that established BMS at the forefront of immuno-oncology which is revolutionizing the treatment of cancer and brought fourteen new medicines to market for patients with devastating diseases in areas including oncology, hematology, cardiovascular disease, hepatitis, rheumatoid arthritis and neuropsychiatry. Dr. Sigal was instrumental in increasing R&D productivity and developing the companys strategy in biologics. In 2012, he was named the best R&D chief in the pharmaceutical industry by Scrip Intelligence.
Affinia Therapeutics is setting a new standard in gene therapy, said Dr. Elliott Sigal. I am pleased to join the companys board at such an exciting time as they pioneer and design vectors and genetic medicines to transform the applicability of gene therapies for patients in need.
Dr. Sigal received his medical degree from the University of Chicago in 1981 and trained in Internal Medicine and Pulmonary Medicine at the University of California, San Francisco (UCSF). He also holds a Bachelor of Science, Master of Science and Ph.D. in Industrial Engineering from Purdue University. Dr. Sigal currently serves as a senior advisor to the healthcare team of New Enterprise Associates and consults for select biotechnology companies including Amgen. He is co-chair of the Scientific Advisory Board of Amgen and is a member of the Scientific Steering Committee of the Sean Parker Institute for Cancer Immunotherapy. He is also a member of the Board of Directors for the biotechnology companies Adaptimmune and Surface Oncology. Dr. Sigal joined BMS in 1997 and held roles in both discovery and development before ascending to Chief Scientific Officer and President of R&D. Positions prior to BMS included a faculty appointment at UCSF, senior executive roles at Syntex/Roche and CEO of the genomics firm, Mercator Genetics.
Dr. Sigal joins Affinia Therapeutics board which includes Dave Grayzel, M.D., Partner, Atlas Venture; Ed Mathers, General Partner, New Enterprise Associates; Luk Vandenberghe, Ph.D., Associate Professor at Mass. Eye and Ear and Harvard Medical School; Rick Modi, Chief Executive Officer, Affinia Therapeutics; Robert Weisskoff, Ph.D., Partner, F-Prime Capital; and Sean Nolan, Chairman of the Board of Directors at Affinia Therapeutics.
About Affinia Therapeutics
At Affinia Therapeutics, our purpose is to develop gene therapies that can have a transformative impact on people affected by devastating genetic diseases. Our proprietary platform enables us to methodically engineer novel AAV vectors and gene therapies that have remarkable tissue targeting and other properties. We are building world-class capabilities to discover, develop, manufacture and commercialize gene therapy products with an initial focus on muscle and central nervous system (CNS) diseases with significant unmet need. http://www.affiniatx.com.
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Vertex Announces European Commission Approval for KALYDECO (ivacaftor) for Children and Adolescents With Cystic Fibrosis Between the Ages of 6 Months…
LONDON 10 June, 2020 Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced that the European Commission has granted approval of the label extension for KALYDECO (ivacaftor) to include the treatment of children and adolescents with cystic fibrosis (CF), ages 6 months and older and weighing at least 5 kg, who have the R117H mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene the most common residual function mutation underlying CF.
A little over eight years ago, KALYDECO was approved as the first and only medicine to treat the underlying cause of cystic fibrosis in patients with specific mutations, said Reshma Kewalramani, M.D., Chief Executive Officer and President at Vertex. Since then, its been our goal to ensure that as many people with CF as possible are able to benefit from our treatments, and todays label extension means that approximately 500 young patients in Europe, who have long awaited a treatment option, are now eligible for KALYDECO.
Now approved, KALYDECO (ivacaftor) will be immediately available to additional eligible patients in Germany and shortly in countries where respective long-term reimbursement agreements have been previously secured. Vertex will work closely with all other relevant government authorities to secure access for eligible patients as quickly as possible.
In Europe, KALYDECO (ivacaftor) is already approved for the treatment of people with CF ages 18 and older with the R117H mutation, and in infants ages 6 months and older weighing at least 5 kg who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R.
About Cystic Fibrosis
Cystic fibrosis (CF) is a rare, life-shortening genetic disease affecting approximately 75,000 people worldwide. CF is a progressive, multi-system disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene. Children must inherit two defective CFTR genes one from each parent to have CF. While there are many different types of CFTR mutations that can cause the disease, the vast majority of all people with CF have at least one F508del mutation. These mutations, which can be determined by a genetic test, or genotyping test, lead to CF by creating non-working and/or too few CFTR proteins at the cell surface. The defective function and/or absence of CFTR protein results in poor flow of salt and water into and out of the cells in a number of organs. In the lungs, this leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage in many patients that eventually leads to death. The median age of death is in the early 30s.
About KALYDECO (ivacaftor)
Ivacaftor is the first medicine to treat the underlying cause of CF in people with specific mutations in theCFTRgene. Known as a CFTR potentiator, ivacaftor is an oral medicine designed to keep CFTR proteins at the cell surface open longer to improve the transport of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.
Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has multiple approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency and APOL1-mediated kidney diseases. In addition, Vertex has a rapidly expanding pipeline of genetic and cell therapies for diseases such as sickle cell disease, beta thalassemia, Duchenne muscular dystrophy and type 1 diabetes mellitus.
Founded in 1989 inCambridge, Mass., Vertex's global headquarters is now located inBoston'sInnovation Districtand its international headquarters is inLondon, UK. Additionally, the company has research and development sites and commercial offices inNorth America,Europe,AustraliaandLatin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years onScience magazine'sTop Employers list and top five on the 2019 Best Employers for Diversity list byForbes.