Diagnosis & Disease Information

genetic testing

Study: Combination Testing Superior to Standalone NGS in Pompe Disease

The combination of enzyme assay-targeted single-gene testing and a focused neuromuscular next-generation sequencing panel appears to be more effective for Pompe disease (PD) diagnosis than stand-alone new-generation sequencing (NGS), according to a recently published study in Molecular Genetics and Metabolism. The Lantern Project, a complementary diagnostic program for PD, combines enzymatic, biomarker, and genetic testing…

Clinical trials

Clinical Trial on Risdiplam for SMA Will Soon Begin Recruitment

An upcoming study will evaluate the pharmacokinetics and safety profile of risdiplam in patients with spinal muscular atrophy (SMA). Researchers will soon be initiating the recruiting process for this interventional study. This phase 4 clinical trial is part of an open-label study analyzing risdiplam. It will include approximately 10 participants. Read more about SMA therapies…

Personalized Training Program May Decrease Symptoms of Pompe Disease

Lifestyle modifications appear to decrease debilitating symptoms of Pompe disease (PD), according to a study recently published in the Journal of Inherited Metabolic Disease. “We think exercise training as adjuvant therapy to [enzyme replacement therapy] cannot change the progression of the disease, especially in the classic infantile patients,” the authors wrote. This prospective interventional study included…

SMA

Trial Aims to Assess Effect of Respiratory Muscle Training in SMA

The study protocol of a randomized controlled trial assessing the feasibility and efficacy of respiratory muscle training in patients with spinal muscular atrophy (SMA) has been published in BMC Neurology.  The trial will investigate the effect of respiratory muscle training in patients, who are 8 years of age and above, with respiratory muscle weakness. Read more…

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