Ruxolitinib Significantly Improves ORR in Acute GVHD Compared With Best Available Therapy
June 30th 2020Patients with steroid refractory acute graft-versus-host-disease (GVHD) have a better overall response rate (ORR) when treated with ruxolitinib compared with the best available therapy, according to results from a phase 3 trial presented at the European Hematology Association’s annual meeting.
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How Is Machine Learning Being Used to Improve Treatment of Rare Diseases?
June 26th 2020There are thousands of rare diseases, but they each affect so few patients that diagnosis and treatment can be delayed by years. Researchers examined how machine learning has been studied in rare diseases and identified areas of opportunity where future studies can improve care and treatment of rare diseases.
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Combination Therapy More Effective Than Standard Treatment for Rare Blood Disease
June 16th 2020A study conducted by Mayo Clinic researchers revealed that a combined treatment featuring daratumumab in conjunction with the standard-of-care for patients with amyloid light-chain (AL) amyloidosis was more effective in improving the condition than the standard treatment alone.
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Orphan Drug Reimbursements Create Tough Situation for South Korean Public Budget
June 12th 2020A data analysis of real-world data found that the rise of orphan drugs (ODs) in the Republic of Korea has not solved all patient accessibility issues as budget concerns can make it difficult to justify reimbursements.
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Test Determines Whether Children Will Respond to Rare Disease Treatment
June 4th 2020Researchers created a test to determine which children with Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase (CAD) gene deficiency will benefit from receiving a nutritional supplement previously deemed effective in children with the condition, according to a study published in Genetics in Medicine.
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Ruxolitinib was found to be more cost-effective than the best available therapy (BAT) when the willingness-to-pay threshold for payers was at $150,000 and applied to patients with hydroxyurea resistant/intolerant polycythemia vera (PV) without splenomegaly, according to a new study.
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FDA Approves Orphan Drug Pemigatinib for Rare Bile Duct Cancer Cholangiocarcinoma
April 20th 2020The FDA Friday approved pemigatinib for adults with previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with a fibroblast growth factor receptor 2 (FGFR2) fusion or other rearrangement.
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Socioeconomic, Personality Factors Found to Impact Quality of Life for Patients With Facial Palsy
April 19th 2020Researchers found that the factors most associated with health related quality of life (HRQOL) in patients with facial palsy are age, bilateral facial palsy, severity of facial palsy, anxiety, and key personality traits, including extraversion and emotional stability.
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FDA Issues Guidance for Developers Targeting Therapies for Single Enzyme Defect Diseases
April 12th 2020The FDA released guidance on what sponsors should take into account when trying to demonstrate clinical effectiveness of new treatments in patients with slowly progressive, low-prevalence rare diseases with substrate deposition that result from single enzyme defects.
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Dr Prakash Bhuyan Discusses Progress on COVID-19 Vaccine, Treatments for HPV-Related Cancers
April 11th 2020Prakash Bhuyan, MD, PhD, vice president of clinical development at Inovio, discusses the company's vaccine trial for coronavirus disease 2019 (COVID-19) as well as its DNA medicine platform for rare genital cancers.
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Study Finds Funding Disparities Between Sickle Cell Disease, Cystic Fibrosis
March 31st 2020Disparities in funding exist between sickle cell disease (SCD) and cystic fibrosis, according to a study published in JAMA Network Open. For SCD, the disparities may be associated with decreased research productivity and novel drug development.
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Yoga Could Aid Pulmonary Rehabilitation in Patients With LAM, Study Finds
March 24th 2020Yoga may be used as a safe intervention for pulmonary rehabilitation in patients with lymphangioleiomyomatosis (LAM), according to a study published in the Orphanet Journal of Rare Diseases. The exercise could also potentially improve patients’ exercise capacity.
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Data Highlight Management, Outcomes of Calciphylaxis in Patients With CKD
March 10th 2020Researchers aimed to describe the management and outcomes of calcific uremic arteriolopathy, or calciphylaxis, in patients with chronic kidney disease (CKD), according to a study published in BMC Nephrology.
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Study Finds Smell, Taste Impaired in Patients With Wolfram Syndrome
March 3rd 2020Researchers determined that patients with Wolfram syndrome have impaired smell identification abilities and blunted perceptions of certain taste stimuli, according to a study published in the Orphanet Journal of Rare Diseases.
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Rare Genomics Institute Marks International Rare Disease Day With New "RareWear" Program
February 29th 2020The Rare Genomics Institute, a nonprofit patient advocacy group, announced it will launch its new RareWear program, marking 2020’s International Rare Disease Day. The program works with patients who have rare diseases to connect them with medical device providers specializing in technology for monitoring and managing conditions. Once matched, patients will receive a device for free from medical device technology providers Bodimetrics, Biotricity, or Strados Labs.
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Dr Abby Statler: African American Patients With AML Exhibit Higher Kidney Test Abnormalities
February 26th 2020When we looked at the pre-treatment creatinine data, we found that African Americans were more likely to have abnormal results and white patients were more likely to have normal results–these differences were statistically significant, said Abby Statler, PhD, MPH, MA, research associate at Cleveland Clinic.
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Dr Abby Statler Speaks on Eligibility Criteria Exclusions for MDS Clinical Trials
February 21st 2020Our outcomes suggest that eligibility criteria for patients with MDS relevant to liver function, renal function, and comorbidities may be relaxed, especially for those who have minor renal function abnormalities who have shown to have similar clinical outcomes to those without such abnormalities, said Abby Statler, PhD, MPH, MA, research associate at Cleveland Clinic.
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