Streamlined Approach to Developing Rare Disease Therapies Being Examined
Initiatives are underway to streamline the pathway to new treatments for rare diseases, a federal health official said at WODC 2023.
Initiatives are underway to streamline the pathway to new treatments for rare diseases, a federal health official said at WODC 2023.
The incidence rate of spinal muscular atrophy (SMA) is rising, highlighting the urgent need for more effective treatment options. To combat this, researchers are gearing up for an innovative new clinical trial study that could significantly impact how we approach the treatment of SMA. This new clinical trial sponsored by GeneCradle Inc. is expected to be completed by December…
A new study published in Ultrasound in Medicine & Biology has revealed that muscle ultrasound changes significantly correlate with functional status and is beneficial for quantifying muscular changes in spinal muscular atrophy (SMA). The study highlighted that the diaphragm thickening ratio could appear normal even with a severe compromise of the respiratory muscles in quantitative analysis. The researchers investigated…
A new review article summarizes the current state of development, as well as the challenges, of gene therapy approaches for rare diseases of the central nervous system (CNS) such as Friedreich ataxia (FA), spinal muscular atrophy (SMA), and Dravet syndrome. The review, published in the Journal of Controlled Release, focuses on the need to overcome…
A new clinical trial aiming to compare the results of physical evaluations in hospital and home settings in patients with spinal muscular atrophy (SMA) receiving genetic therapy is currently in the recruiting phase. Therapeutic strategies focusing on the increase of SMA protein production through genetic replacement and premRNA splicing in SMN2 modification with drugs such…
A recent study published in the Journal of Neuromuscular Diseases has revealed that neuroMuscular ObserVational Research Data Hub (MOVR) can serve as a potential platform for informing disease understanding, clinical trial design guidance, and accelerating the drug development for neuromuscular diseases (NMDs). According to the researchers, the MOVR platform collects longitudinal data from individuals diagnosed with various…
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…
A clinical trial aims to evaluate nusinersen therapy among pregnant women with spinal muscular atrophy (SMA). The upcoming clinical trial sponsored by Biogen Inc began on April 15, 2023. The trial aims to prospectively assess pregnancy complications and outcomes in patients with SMA. The investigators will also look at birth outcomes and adverse effects in infants born to…
A new phase 2 clinical trial, called SYNAPSE-SMA, will investigate the safety and efficacy of NMD670 in ambulatory adults with spinal muscular atrophy (SMA) type 3. The study is not yet recruiting but will seek to enroll 54 participants with an estimated start date of May 2023. The study will involve a 2-way crossover design…
A recent study published in Biomedicines has found greater improvement in the upper limb compared to the overall improvement in motor function based on the 12-month observation in patients with spinal muscular atrophy (SMA). The study observed that the more stable older patients showed fewer incremental structural changes than the young ones. Furthermore, steady structural changes negatively…