ResearchBIORXIV2 days ago
Scientists developed a new test that measures heparan sulfate (a substance that builds up in the brain and spinal fluid) in patients with Sanfilippo syndrome type A. This test could help doctors track whether the disease is getting worse and whether new treatments are working. The test uses advanced laboratory technology to get accurate measurements from spinal fluid samples.
WHY IT MATTERSFor MPS IIIA patients and families, this validated biomarker could enable earlier detection of disease progression and provide objective evidence of whether emerging gene and enzyme therapies are actually reducing the toxic buildup in the brain.
ResearchRSSApr 22
Scientists found that a gene called RUNX1 might help doctors predict when patients with pulmonary arterial hypertension (PAH) — a serious lung disease that makes it hard to pump blood — could develop heart problems. When the right side of the heart weakens in PAH patients, it becomes very dangerous. This discovery could help doctors catch and treat these heart problems earlier.
WHY IT MATTERSIf RUNX1 becomes a validated biomarker, PAH patients could receive earlier interventions to prevent right heart failure, potentially improving survival and quality of life before irreversible damage occurs.
Clinical trialCLINICALTRIALSApr 9
Researchers at Columbia University are looking for 106 children and young adults with Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy Type 3 (SMA Type 3) to join a study. The study will use special sensors and technology to track how people walk and move in their daily lives over a long period of time. The goal is to find new ways to measure how these diseases are progressing so doctors can better understand and treat them.
WHY IT MATTERSThis trial is now actively recruiting participants with DMD and SMA Type 3, offering a chance to contribute to developing better measurement tools that could help doctors track disease progression and evaluate future treatments more accurately.
Clinical trialCLINICALTRIALSMar 26
Researchers are testing new cancer treatments for people with rare types of ovarian cancer that have come back or didn't go away after initial treatment. The study will test different medicines based on specific genetic markers found in each patient's tumor. About 176 patients will participate, and the trial is being run by Roche, a major pharmaceutical company.
WHY IT MATTERSThis trial offers personalized treatment options for patients with recurrent or persistent rare epithelial ovarian cancers, where standard treatments have failed or stopped working—a situation with very limited options.