November 15th 2024
Put up against placebo in the phase 3 EMBARK trial, delandistrogene moxeparvovec (Elevidys) did not significantly improve function after 52 weeks.
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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Market Exclusivity Bears Little Relationship to Increase in Rare Disease Drugs, Finds Study
May 13th 2018While the number of drugs approved for rare diseases has increased significantly since the passage of the Orphan Drug Act of 1983, questions linger about whether is connected with innovation in treatments for rare diseases, especially given the fact that patent protection for new products often extends well beyond the 7 years granted to orphan drugs.
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The Rise of Orphan Drugs for Rare Diseases
May 7th 2018Since the Orphan Drug Designation program was passed in 1983, there have been over 600 orphan drug approvals, compared to less than 10 the decade before, said Stephen Jung, PharmD, BCPS, manager, drug information, MedImpact Healthcare Systems, during a session at the Academy of Managed Care Pharmacy’s Managed Care & Specialty Pharmacy Annual Meeting.
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Dr Aimee Tharaldson on Recently Approved Specialty Drugs, Upcoming Approvals to Watch
May 5th 2018Aimee Tharaldson, PharmD, a senior clinical consultant in Emerging Therapeutics for Express Scripts, discusses specialty drugs that have recently been approved, and which we will likely see approved in the remainder of the year.
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Research Provides Insight Into Cardiac-Related Mortality in Huntington Disease
May 1st 2018Huntington disease (HD) is an incurable, inherited neurological disorder caused by the mutant Huntingtin gene, which produces a mutant form of Huntingtin protein (mHTT). In addition to creating the profound neurological impacts of HD, the mHTT protein also impairs other organ systems, and new research, published in Cell Reports, suggests that the protein may play a role in cardiac-related mortality in patients with HD.
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Patient-Reported Outcome Measures Are Key to Understanding Rare Diseases
April 29th 2018Rare disease can significantly reduce patients’ quality of life, and the use of patient-reported outcome measures (PROMs) can be key to helping researchers understand how diseases and treatments impact quality of life and symptoms, according to a review newly published in the Orphanet Journal of Rare Diseases.
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Positive Interim Data Published for Transfusion-Dependent Β-Thalassemia Gene Therapy
April 24th 2018Drug company bluebird bio, Inc, has announced the publication of positive interim data for its gene therapy to eliminate or reduce chronic blood transfusions in patients with transfusion-dependent β-thalassemia.
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FDA Committee in Favor of Cannabidiol to Treat Two Rare Seizure Disorders
April 22nd 2018The FDA’s Peripheral and Central Nervous System Drugs Advisory Committee has unanimously recommended approval of the New Drug Application for GW Pharmaceuticals’ proposed cannabidiol oral solution for the adjunctive treatment of seizures associated with 2 rare disorders, Lennox-Gastaut syndrome and Dravet syndrome, in patients 2 years and older.
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Price Tag for Newly Approved Crysvita Is "Responsible," Says PBM Express Scripts
April 18th 2018Taking the rebates that it expects to negotiate into consideration, Ultragenyx said that burosumab will cost approximately $160,000 per patient per year for children and $200,000 per patient per year for adults, depending on body weight. The company said that it does not plan to increase costs in the early years of the drug’s availability.
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As New Duchenne Therapy Enters Phase 1 Trial, Advocacy Groups Seek Better Access to Existing Drug
April 15th 2018Pfizer has dosed its first patient in a phase 1 clinical trial of an investigational gene therapy for the treatment of patients with Duchenne muscular dystrophy, a genetic disease that results in the absence of dystrophin, a protein that helps to keep muscle cells intact.
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Discovery About Rare Bone Disease May Also Hold Clues About Bone Health
April 12th 2018National Institutes of Health researchers have uncovered a genetic basis of a rare bone disease known as melorheostosis and said the discovery could offer potential treatment targets, provide clues about bone development, and lead to insights about fracture healing and osteoporosis.
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Pediatric Sickle Cell Disease Drug Gains European Orphan Designation
April 8th 2018Sancilio Pharmaceuticals announced that it has received the European Medicines Agency’s Orphan Designation for its SC411 (which it plans to market as Altemia), a proposed treatment for sickle cell disease in pediatric patients, in the European Union. The FDA granted the proposed drug a similar designation—the Rare Pediatric Disease designation—in 2017.
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Siponimod Reduced Progression in Secondary Progressive Multiple Sclerosis in a Phase 3 Trial
April 1st 2018Results of a double-blind, randomized, phase 3 trial, published last week in The Lancet, show that siponimod—a selective sphingosine 1-phosphate receptor modulator—slowed the progression of disability in secondary progressive multiple sclerosis.
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Boys Don't Get HPV Vaccination Because Doctors Don't Recommend It, Study Finds
March 26th 2018Uptake for the human papillomavirus (HPV) vaccination has never reached CDC targets. Minority children from lower-income households are more likely to get the vaccination than white children from higher-income households, according to the study author.
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ICER Review Finds Hemlibra Lowers Costs and Improves Outcomes in Hemophilia A
March 25th 2018Recently, the Institute for Clinical and Economic Review (ICER) released an evidence report that investigated the comparative clinical effectiveness and value of emicizumab (marketed as Hemlibra, developed by Genentech) in the treatment of hemophilia A.
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