Spinal muscular atrophy is a genetic motor neuron disorder that causes progressive muscle weakness and atrophy. It includes multiple types with variable age of onset and severity, but all are linked to degeneration of motor neurons controlling skeletal muscle movement.
India is expanding rare disease support under the 2021 policy, with aid up to Rs 50 lakh and 15 Centres of Excellence. Officials also called for local innovation as treatment costs can reach ₹16 crore.
Novartis received a positive CHMP opinion for Itvisma in spinal muscular atrophy patients aged 2 years and older. A European Commission decision is expected within about two months.
Novartis is emphasizing innovative medicines across oncology, immunology, neuroscience and gene therapy. The company targets mid-single-digit sales growth through 2027 and core operating income margins above 35%.
The European Commission has approved KYGEVVI (doxecitine and doxribtimine) as the first treatment for thymidine kinase 2 deficiency (TK2d), an ultra-rare mitochondrial disease. Clinical studies showed the drug reduces death risk by 95% and helps 84% of patients regain motor functions. The approval covers pediatric and adult patients with symptom onset before age 12.
Research from Germany and Australia shows zebrafish functional testing can identify false-positive SMA newborn screening results, preventing unnecessary treatment in rare cases where infants carry functional SMN1 gene variants.
New treatments for rare pediatric neurological conditions show promise, with zorevunersen reducing seizures in Dravet syndrome patients and an SMA therapy under FDA review following stem cell research breakthroughs.
Scholar Rock plans to resubmit its biologics license application for apitegromab in spinal muscular atrophy following FDA reinspection of the Catalent Indiana fill-finish facility, with a U.S. launch anticipated in 2026.
Artificial intelligence is revolutionizing rare disease diagnosis, cutting diagnostic timelines from years to weeks. Rare Disease Day on February 28 highlights challenges faced by over 300 million people worldwide living with more than 7,000 distinct rare conditions.
International Rare Disease Day on February 28 underscores challenges in diagnosing and treating rare genetic conditions, with patients facing years-long diagnostic delays and geographic barriers to accessing gene therapies.
Pharmaceutical companies are increasingly partnering with biotechs developing RNA-targeting small molecules, driven by advances in RNA structural biology and the success of drugs like Roche's Evrysdi. The approach aims to address "undruggable" targets while offering oral availability advantages.
| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT07547189 |
Effects of Developmental Support for Mothers of Infants With Spinal Muscular Atrophy |
ACTIVE_NOT_RECRUITING | NA |
| NCT07478172 |
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease |
RECRUITING | NA |
| NCT07448610 |
ASsessing The REAl-world Safety & Effectiveness of Spinal Muscular Atrophy Participants Treated With Intrathecal Onasemnogene Abeparvovec-brve (OAV101B) (ITVISMA®): A U.S. Pragmatic Multicenter Study (STREAM) |
NOT_YET_RECRUITING | PHASE4 |
| NCT07444476 |
A Study to Learn About Salanersen's (BIIB115) Effects on Movement and Its Safety in Participants Aged 15 to 60 Years With Spinal Muscular Atrophy (SMA) Who Are Either New to SMA Treatment or Were Previously Treated With Risdiplam |
RECRUITING | PHASE3 |
| NCT07231549 |
CuidAME: Longitudinal Data Collection From Patients With Spinal Muscular Atrophy in Spain |
RECRUITING | |
| NCT07047144 |
A Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy |
RECRUITING | PHASE2 |
| NCT06955897 |
Characterizing Perceived Physical Fatigability in Nusinersen-treated SMA |
RECRUITING | |
| NCT06756633 |
Respiratory Functions, Thoracoabdominal Movements and Exercise Capacity in Neuromuscular Diseases |
RECRUITING | |
| NCT06605612 |
Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders |
ENROLLING_BY_INVITATION | |
| NCT06588803 |
A Long-term Follow-up Study Evaluating Intravenous Injection of EXG001-307 in Patients With Type 1 SMA |
ENROLLING_BY_INVITATION |
