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.
Novartis beat second-quarter profit expectations as Kisqali, Kesimpta and Leqvio offset a 50% plunge in Entresto sales. The Swiss drugmaker maintained its full-year guidance and awaits late-stage data on three experimental drugs.
England will screen all newborns for SMA after Jesy Nelson's campaign. A real-world study found Zolgensma helped children with SMA achieve motor milestones, with newborn screening leading to earlier gains.
Biogen's Phase 2 CELIA trial showed diranersen slowed Alzheimer's decline and cut tau biomarkers, but missed the dose-response goal. Leqembi sales data is expected next quarter.
A new Italian White Paper reveals women with rare diseases wait two years longer than men for a diagnosis, while Georgia expands state-funded care for rare neuromuscular conditions to adults. The report also highlights regional disparities and economic burdens on patients and carers.
In vivo base editing corrected the CHD3 p.R1025W mutation in a mouse model of Snijders Blok–Campeau syndrome, restoring protein levels and rescuing behavioural abnormalities. Intrathecal AAV delivery in nonhuman primates supported translational feasibility.
Researchers report advances in RNA-based gene therapy: an FDA-approved small molecule modulates RNA splicing, protein-coated nanoparticles enable safer delivery, and a microRNA platform targets glioblastoma.
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.
| NCT ID | Title | Status | Phase |
|---|---|---|---|
| NCT07767890 |
A Study of the Safety and Effectiveness of Onasemnogene Abeparvovec (Zolgensma) Intrathecal Injection in Spinal Muscular Atrophy Patients |
NOT_YET_RECRUITING | |
| NCT07737756 |
A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi Arabia |
NOT_YET_RECRUITING | |
| NCT07720518 |
Spinal Muscular Atrophy and School Transitions |
NOT_YET_RECRUITING | |
| NCT07547189 |
Effects of Developmental Support for Mothers of Infants With Spinal Muscular Atrophy |
COMPLETED | 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 |
