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1 month ago | 
sclerodermanews.com | Andrea Lobo |Marta Costa Figueiredo |Steve Bryson
Treatment with Ofev (nintedanib) for up to four years was associated with a sustained slowing of lung function decline in people with systemic sclerosis (SSc) associated with interstitial lung disease (SSc-ILD). That’s according to new results from the open-label study SENSCIS-ON (NCT03313180), a three-year extension of the SENSCIS Phase 3 trial that formed the basis for the therapy’s regulatory approvals.
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1 month ago | 
smanewstoday.com | Lindsey Shapiro |Katherine Poinsatte |Marta Costa Figueiredo |Mary Chapman
Tests by MRC Holland for identifying genetic mutations associated with spinal muscular atrophy (SMA) have met new regulatory requirements in the European Union (EU), enabling them to remain certified for diagnostic use. Products that have received the new certification include the MC002 Newborn Screen, MLPA Probemix P060 SMA Carrier, and MLPA Probemix P021 SMA.
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1 month ago | 
parkinsonsnewstoday.com | Margarida Maia |Marta Costa Figueiredo |Steve Bryson
A compound formed by nerve cells as they break down cholesterol appears to be involved in the formation of toxic alpha-synuclein protein clumps in the brain — clumps, or aggregates, that are tied to Parkinson’s disease — making this byproduct a potential therapeutic target, a new study in patients and mice suggests.
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2 months ago | 
friedreichsataxianews.com | Katherine Poinsatte |Marisa Wexler |Marta Costa Figueiredo |Jean Ker Walsh
People with Friedreich’s ataxia (FA) were found in a new study to experience more mental health symptoms — particularly decreased motivation and greater anxiety and depression — than individuals without the rare disease, who served as controls.
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2 months ago | 
fabrydiseasenews.com | Steve Bryson |Marta Costa Figueiredo |Marisa Wexler |Margarida Maia
Five years after receiving the experimental Fabry disease gene therapy AVR-RD-01, kidney function in all five participants remains relatively stable, according to the final results of the Canadian FACTs study, which tested the treatment candidate in men with the condition. All five patients had significant and sustained increases in blood alpha-Gal A activity, an enzyme deficient in people with Fabry.
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2 months ago | 
smanewstoday.com | Helen Baldwin |Marta Costa Figueiredo |Steve Bryson
I learned my vision needed assistance in fifth grade. Although I unwittingly squinted at the chalkboard, my report cards never indicated a problem. I was a model student because I adored my teacher, Mrs. Chandler. I didn’t want to disappoint my teacher parents, either. They never needed to prod me to do well; as a typical firstborn child, I aimed for perfection. Consequently, when annual vision screening in the nurse’s office revealed that I couldn’t see everything as I should, I was devastated.
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Jan 16, 2025 | 
myastheniagravisnews.com | Esteban Cerezo |Lindsey Shapiro |Marta Costa Figueiredo |Steve Bryson
People with myasthenia gravis (MG) are just as likely to have upper respiratory tract infections (URTIs) as people in the general population, a study in Saudi Arabia suggests. Certain treatments used to manage MG, such as rituximab, an antibody-based therapy sometimes used off-label for that purpose, might increase the frequency of these types of infections, however.
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Dec 4, 2024 | 
rettsyndromenews.com | Steve Bryson |Andrea Lobo |Yedida Y Bogachkov |Marta Costa Figueiredo
A research team has identified Rett syndrome-specific molecules that regulate gene activity, called microRNAs, that are associated with the growth of patient-derived brain cells and may serve as biomarkers for monitoring Rett progression. Using 3D organoids that mimic the brain, the team identified these microRNA fingerprints within extracellular vesicles (EVs), tiny particles secreted by cells that carry various bioactive molecules, including miRNAs, to promote cell-to-cell communication.
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Nov 14, 2024 | 
alsnewstoday.com | Katherine Poinsatte |Lindsey Shapiro |Margarida Maia |Marta Costa Figueiredo
Researchers at Northwestern University received a $7.3 million research grant from the National Institute of Aging to expand their work on NU-9, which has shown promise in amyotrophic lateral sclerosis (ALS) preclinical studies, and explore its effectiveness in other neurodegenerative diseases. The institute is a division of the National Institutes of Health. Akava Therapeutics is developing NU-9 for ALS under the name AKV9. The company was founded by Richard B.
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Nov 11, 2024 | 
friedreichsataxianews.com | Jean Ker Walsh |Marisa Wexler |Marta Costa Figueiredo |Sean Baumstark
A couple weeks ago, I wrote that I was planting bulbs in my garden. I’m still doing that because I always buy too many. They’re just too beautiful for me to pass up!OK, I could pass them up, but I indulge myself. Every fall, I feel overwhelmed. But as the flowers emerge from the ground each spring, I marvel at the gift my tulips (or whatever bulbs I’ve planted) have given me. Hope for next spring’s beauty keeps me planting them.
