Novartis

Child with SMA

Onasemnogene Abeparvovec Effective at Improving Motor Skills in SMA Type 1

Onasemnogene abeparvovec (Zolgensma®) is effective at improving motor function and achieving motor milestones in patients with spinal muscular atrophy (SMA) type 1, according to a systematic review and meta-analysis published in Human Gene Therapy. Based on a systematic review of 11 studies and a meta-analysis of data from 4 studies, patients who received onasemnogene abeparvovec…

mast cell

Midostaurin Leads to Improved Overall Survival in Mast Cell Leukemia Patients

A new study has determined that midostaurin is the most common therapy administered to treat mast cell leukemia (MCL), a rare subtype of systemic mastocytosis (SM), and that it leads to improved overall survival (OS) compared to other therapies. The study, published in Blood Advances, noted that the median OS in patients with MCL was…

skeletal muscle

Significant Muscle Loss During GIST Therapy Associated With Worse Prognosis

Significant muscle loss during neoadjuvant therapy with imatinib may be associated with postsurgical complications and a worse prognosis in patients with gastrointestinal stromal tumor (GIST). According to a study published in BMC Gastroenterology, GIST patients with significant muscle loss had a significantly higher rate of postoperative complications than those who did not have significant muscle…

clinical research

New Study Testing Experimental Therapy for IPF Opens

A new clinical trial that aims to assess the efficacy of an investigational therapy for idiopathic pulmonary fibrosis (IPF) recently opened. The phase 2 participant- and investigator-blinded, randomized, placebo-controlled, multicenter study will include 94 patients with a diagnosis of IPF based on the American Thoracic Society (ATS)/European Respiratory Society (ERS)/Japanese Respiratory Society (JRS)/Latin American Thoracic…

clinical trial

New Study Testing MS Drug for NMOSD Relapse Prevention Opens

Chinese researchers are recruiting participants for a clinical study investigating the efficacy and safety of ofatumumab in patients with aquaporin-4 immunoglobulin G (AQP4-IgG)-seropositive neuromyelitis optica spectrum disorder (NMOSD).  NMOSD is a demyelinating disorder that results in severe morbidity. Studies have indicated that its pathophysiology is primarily driven by a pathological B cell-mediated humoral immune response…

Zolgensma

Two Patients With SMA Die Following Onasemnogene Abeparvovec Infusion

Two patients with spinal muscular atrophy (SMA) have died following onasemnogene abeparvovec-xioi (Zolgensma®) infusions as a result of acute liver failure.  Novartis Gene Therapies, the makers of onasemnogene abeparvovec, said in a statement emailed to Rare Disease Advisor that acute liver failure is a known side effect of onasemnogene abeparvovec and is included in the…

FDA sign

FDA Grants Accelerated Approval for GIST Combination Therapy

The US Food and Drug Administration (FDA) announced accelerated approval for the combination of 2 therapies, dabrafenib and trametinib, for the treatment of unresectable or metastatic solid tumors with BRAF V600E mutations, including gastrointestinal stromal tumors (GISTs). The approval applies to use in adults and children aged 6 years and above who have progressed despite…

graph stethoscope data

AV-101 Dry Powder Inhalation Shows Positive Results in PAH Phase 1 Trial

Aerovate Therapeutics has announced results of their phase 1 trial of AV-101, a new dry powder inhaled imatinib formulation for the treatment of patients with pulmonary arterial hypertension (PAH). The results were presented at the American Thoracic Society (ATS) International Conference in San Francisco, California on May 16, 2022. “We are pleased these Phase 1…

sickle cell disease

Proposed Genome Editing Technology Aims to Transform SCD Treatment

Precision BioSciences will use their novel genome editing technology called ARCUS® to develop a potentially curative treatment for sickle cell disease (SCD) and other hemoglobinopathies in collaboration with Novartis Pharma. The technology will use a custom nuclease to insert, in vivo, a therapeutic transgene at a “safe harbor” location in the genome. “We believe that…

sickle cell disease

Voxelotor, L-Glutamine, and Crizanlizumab Show Varying Benefits in SCD

Patients with sickle cell disease (SCD) exhibited a decrease in vaso-occlusive crises (VOC) when using l-glutamine or crizanlizumab, while voxelotor helped improve hemoglobin concentrations, according to a study published in Cureus. A systematic review of 12 studies looked into the effects of l-glutamine, crizanlizumab, and voxelotor on patients with SCD regarding their efficacy, response, complications,…

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