January 23rd 2024
Momelotinib was given category 2A and 2B status for patients with high- and low-risk myelofibrosis (MF) and MF with anemia. However, ruxolitinib retains a higher category of recommendation as a treatment for patients with MF.
December 26th 2023
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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Study: Inconsistency of Rare Disease Definitions Causes Problems That Standardization Could Fix
February 19th 2020Investigators say that inconsistencies in the way rare diseases are defined contribute to misdiagnoses, delayed treatment, and other ills that could be addressed with global standards.
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Review Evaluates Pharmacological Treatments for Rare Neoplastic Disease
February 18th 2020A systematic review and meta-analysis of 10 studies to evaluate the efficacy and safety of pharmacological treatments for lymphangioleiomyomatosis yielded mixed results, according to the findings published in Respiratory Research.
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Discovery Could Enable Effective Treatments for Rare Blood Disease
February 3rd 2020Cancer cells present in skin lesions resulting from mycosis fungoides originate from the blood, disproving previously held hypotheses regarding the disease’s pathogenesis, according to a study published in the American Society of Hematology’s Blood.
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Report Describes Rare Combination of Abdominal Aortic Aneurysm, Kidney Cancer With Polycythemia
February 2nd 2020The case study involved a 61-year-old obese Caucasian male with a medical history of smoking, hypertension, chronic obstructive pulmonary disease, and sleep apnea who initially presented to the hematology clinic with polycythemia.
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Researchers Identify Biomarker for Spotted Fever Rickettsial
January 26th 2020Researchers recently discovered a sensitive and specific biomarker that may enable early diagnosis, treatment, and public awareness of spotted fever rickettsial infections, including Mediterranean spotted fever (MSF), according to a study published in the American Journal of Pathology.
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Study Finds miR-543 Could Be a Novel Biomarker for Patients With Myelofibrosis
January 21st 2020A study published in JCI Insight determined miR-543, an RNA gene, plays a significant role in the epigenetic landscape of myelofibrosis, specifically via its targeting of the dioxygenases ten-eleven translocation 1 and 2.
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