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
Leukocytosis Linked With Subsequent Thrombotic Events in Polycythemia Vera
August 22nd 2018The investigators in a recent study found that prior thrombotic events and leukocytosis were linked to subsequent thrombotic events in general, and prior arterial events and hyperlipidemia were linked with subsequent arterial events.
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Artificial Intelligence Company to Develop Treatments for Duchenne and Other Rare Diseases
August 15th 2018Insilico Medicine, an artificial intelligence (AI) for drug discovery company, and A2A Pharmaceuticals, Inc., a biotechnology company focused on novel drug development for oncology, have recently announced their research collaboration to form a new company, Consortium.AI, which will apply advances in AI to discovery of novel small molecules for the treatment of Duchenne muscular dystrophy (DMD) and other rare diseases.
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FDA Approves Orkambi to Treat Cystic Fibrosis in Children Aged 2 to 5 Years
August 12th 2018While Orkambi was already approved to treat patients aged 6 years and older, this week’s approval marks the first time that very young patients, aged 2 to 5 years, have had a therapeutic option available to treat the cause of their cystic fibrosis.
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FDA Approves the First Treatment for Unresectable Pheochromocytoma or Paraganglioma
August 8th 2018In July 2018, the FDA approved iobenguane I 131 (Azedra), the first treatment for patients with unresectable pheochromocytoma or paraganglioma, which are rare tumors of the adrenal gland, that require systemic anticancer therapy. These tumors, which typically appear at an early age and are associated with premature death, can increase the production of epinephrines and norepinephrines, leading to a host of symptoms, including hypertension, vomiting, weakness, and chest pain.
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For Families of Children With Life-Limiting Metabolic Diseases, End-of-Life Planning Is Key
August 5th 2018Notably, in contrast to previous reports on palliative care in children, in which most children died at home, most of the children who died during the study period died in the hospital or in the intensive care unit. In fact, some of the children died while receiving interventions, such as the placement of a percutaneous endoscopic gastrostomy tube.
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Low-Dose Fenfluramine Performs in Dravet Syndrome in Second Phase 3 Clinical Trial
August 1st 2018Fenfluramine, a drug that was previously sold as an appetite suppressant before it was withdrawn from the market in 1997 over concerns about its link to heart valve problems, may have a new application; low doses of fenfluramine hydrochloride have now proven successful in treating Dravet syndrome, a particularly severe form of epilepsy.
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QR Code–Linked System Could Improve Adrenal Crisis Management in Addison Disease
July 25th 2018When a patient experiences an adrenal crisis associated with Addison disease (primary adrenal failure), hydrocortisone and fluid resuscitation must be given immediately in order to prevent hypotensive shock and death. A recent clinical audit evaluated healthcare professionals’ management of adrenal crisis, and found that there is a clinical need to improve the acute management of this life-threatening condition.
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Study Finds Acetazolamide May Be Effective in Treating Glioblastoma
July 22nd 2018Acetazolamide, sold under the trade name Diamox, is a drug used to treat altitude sickness, glaucoma, epilepsy, heart failure, and seizures. According to a new study, acetazolamide may also be effective in treating the fast-growing brain tumor glioblastoma.
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Researchers Find Astrocytes to Be Central Driver Behind Huntington Disease Pathology
July 18th 2018Recent study results reveal the importance of the role of astrocytes in the brain due to the exchange between astrocytes and neurons that is disturbed during Huntington disease, a fatal neurodegenerative disease characterized by loss of voluntary motor control, psychiatric disturbances, and cognitive decline.
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Lomitapide Significantly Lowers LDL-C in Patients With HoFH, Study Finds
July 15th 2018Homozygous familial hypercholesterolemia is a rare genetic condition that is often characterized by an increased risk of premature cardiovascular (CV) events and cardiac death. Lomitapide decreases low-density lipoprotein cholesterol (LDL-C) levels, but there is little research of the effects on LDL-C goals and CV events.
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DMD Trial Results Demonstrate Decrease in Creatine Kinase Levels
July 10th 2018Results of a Phase 1/2a gene therapy clinical trial in children with Duchenne muscular dystrophy (DMD) revealed a significant decrease in levels of serum creatine kinase, an enzyme biomarker associated with muscle damage caused by DMD.
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ELOQUENT-3 Meets Its Primary End Point in Treating Relapsed/Refractory Multiple Myeloma
June 24th 2018During the European Hematology Association’s 23rd Congress, held from June 14 to 17 in Stockholm, Sweden, researchers announced that the ELOQUENT-3 phase 2 study, evaluating elotuzumab with pomalidomide and low-dose dexamethasone in patients with relapsed/refractory multiple myeloma, met its primary endpoint in showing a statistically significant, clinically meaningful improvement in progression-free survival.
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New Rare Disease Program Addresses Patients' Challenges and Burdens
June 18th 2018Patients with rare diseases often face a difficult and long diagnosis and treatment process. Express Scripts recently announced a new Rare Conditions Care Value program that includes the introduction of a support service known as Second Opinion, which offers guidance and expert case review for patients on an individual basis, with PinnacleCare.
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Study Shows That Volanesorsen Reduces Disease Burden in Patients With FCS
June 17th 2018Akcea Therapeutics has announced the publication of results from the Re-FOCUS study that sought to assess the burden of familial chylomicronemia syndrome (FCS) on patients and the impact of Akcea's proposed drug, volanesorsen, on disease burden.
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FDA Grants Orphan Drug Designation to Treatment for Facioscapulohumeral Muscular Dystrophy
June 10th 2018GBC0905, a small-molecule drug, suppresses DUX4 function and protects skeletal muscle cells from muscle fiber death. Amanda Rickard, lead scientist of Genea Biocells’ FSHD program, said in a statement that the company expects the drug to be curative.
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Patients With Down Syndrome Have Higher Risk of Pulmonary Hemosiderosis
June 6th 2018Pulmonary hemosiderosis (PH) is a rare, chronic lung disease characterized by hemoptysis, iron deficiency anemia, and alveolar and/or interstitial opacities on lung imaging. Little about the etiology and pathophysiology of the disease is known, but PH typically involves periods of remission and relapse. New research that investigated the relationships between PH and Down syndrome (DS), and found that patients with DS have a higher risk of developing PH.
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FDA Grants Breakthrough Therapy Designation to Gene Therapy for Cerebral Adrenoleukodystrophy
June 3rd 2018The FDA has granted a Breakthrough Therapy designation to bluebird bio, Inc’s Lenti-D, a gene therapy for patients with cerebral adrenoleukodystrophy, an X-linked genetic disorder caused by a defect in the gene ABCD1.
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Study Analyzes Benefits of Ivacaftor Treatment for Cystic Fibrosis
May 30th 2018Patients with cystic fibrosis (CF) who were treated with ivacaftor have demonstrated favorable results for clinically important outcomes, including a lower prevalence of CF-related complications and improved lung function, according to a new study.
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FDA Approves Pegvaliase-pqpz to Treat Adults With Phenylketonuria
May 27th 2018The FDA has approved BioMarin’s pegvaliase-pqpz (Palynziq), a drug for the treatment of phenylketonuria (PKU) in adults. PKU is a rare autosomal recessive disorder, affecting approximately 1 in every 10,000 to 15,000 people in the United States, that increases the levels of phenylalanine (an amino acid obtained through all dietary proteins and some artificial sweeteners) in the blood.
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Dr Clifford Goodman Discusses the Challenge of Valuing New, Expensive Therapies for Rare Diseases
May 22nd 2018Legislation, advancing science, and more sophisticated patient advocacy has led to a proliferation of new therapies to treat rare diseases, and society has begun to indicate a willingness to pay for these more expensive therapies, said Clifford Goodman, PhD, senior vice president and director, Center for Comparative Effectiveness Research, The Lewin Group.
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Patients With Hemophilia A, With or Without Factor VIII, Benefitted from Emicizumab in HAVEN Trials
May 22nd 2018Trial results show that patients with hemophilia A with or without factor VIII inhibitors treated with emicizumab-kxwh every 4 weeks can have clinically meaningful control of bleeding.
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The Muscular Dystrophy Association Awards Human Trial Grant for ALS Research
May 15th 2018Massachusetts General Hospital has received a $750,000 human clinical trial grant to explore the use of positron emission tomography imaging of inflammation to serve as a biomarker for amyotrophic lateral sclerosis diagnosis and clinical trials.
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