Spinraza (nusinersen) / Biogen, Ionis, Royalty - LARVOL DELTA

Quantitative Whole-Body Muscle MRI in Adults With Spinal Muscular Atrophy-A Sensitive Tool for Long-Time Evaluation of Disease Progression. (PubMed, Eur J Neurol) - "This study provides the longest reported longitudinal qMRI assessment in adult SMA patients treated with nusinersen, demonstrating that mFF progressively increases despite stable clinical scores. The results suggest that qMRI may be a sensitive and objective biomarker for detecting subtle disease progression in adult SMA, potentially surpassing clinical measures."

Journal • CNS Disorders • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases

Risdiplam Impact in Treatment Naïve and Non-Naïve Pediatric and Adult Patients With Spinal Muscular Atrophy. (PubMed, Eur J Neurol) - "This study fills Asian real-world data gaps, stresses the importance in monitoring in severe SMA, and underscores the need for larger, long-term safety and efficacy studies."

Journal • Genetic Disorders • Movement Disorders • Muscular Atrophy • Pediatrics • Rare Diseases

Comment on "CSF and plasma GFAP and VEGF in adult type 3 spinal muscular atrophy patients treated with nusinersen". (PubMed, J Neurol Sci) - No abstract available

Journal • CNS Disorders • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases • GFAP • VEGFA

The RAvIN Platform: A Noncarbohydrate Platform for Oligonucleotide Synthesis. (PubMed, J Am Chem Soc) - "Notably, RKs can incorporate appropriately protected natural nucleobases as well as nucleobase analogues, be made on scale in 2-4 steps with carbohydrate-like levels of enantiomeric purity, and are readily diversified to create the next-generation NAs required to improve the pharmacokinetic properties of the ONTs. Finally, we demonstrate the versatility and potential of this methodology in a totally noncarbohydrate synthesis of the all-MOE-modified 18mer ONT Nusinersen."

Journal

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24-Month Follow-Up From the Italian Registry. (PubMed, Ann Clin Transl Neurol) - "Age and baseline motor functional status significantly influence outcomes; however, substantial confounding, particularly the initial treatment, limits the ability to isolate individual effects. Longer follow-up is essential for evaluating therapeutic responses in heterogeneous SMA I populations."

Journal • Gene Therapies • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases • SMN2

A Study to Find Out How Nusinersen is Processed in the Body When Given Through the ThecaFlex DRx™ System in Adult and Pediatric Participants With Spinal Muscular Atrophy (PIERRE-PK) (clinicaltrials.gov) - P1 | N=58 | Recruiting | Sponsor: Biogen | Trial completion date: May 2026 ➔ Jun 2027 | Trial primary completion date: May 2026 ➔ Jun 2027

Trial completion date • Trial primary completion date • Genetic Disorders • Movement Disorders • Muscular Atrophy • Pediatrics • Rare Diseases

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy. (PubMed, Ann Neurol) - "There is a malignant disease course with active denervation in children with 2 SMN2 copies within the neonatal period. sNfL gives early insights into underlying pathophysiology prior to a clinical phenotype and may expedite access to the initiation of treatment. ANN NEUROL 2026."

Journal • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases • NEFL • SMN2

Shifting Hospitalization Patterns in Pediatric Spinal Muscular Atrophy in the Post-Spinraza Era (SCCM 2026) - "Hospitalizations post-Spinraza had higher feeding tube and palliative care rates but shorter stays and lower mechanical ventilation rates. Spinraza independently reduced mechanical ventilation rates, and while SES quintiles showed no association, public insurance predicted higher technology use and palliative care, highlighting the need for broader Spinraza access."

Clinical • CNS Disorders • Genetic Disorders • Movement Disorders • Muscular Atrophy • Palliative care • Pediatrics • Rare Diseases

EVIDENCE BASE FOR JOINT CLINICAL ASSESSMENT: A CLINICAL SYSTEMATIC LITERATURE REVIEW OF OAV101 IT AND COMPARATORS FOR SPINAL MUSCULAR ATROPHY (ISPOR 2026) - "No head-to-head RCTs were identified for SMA DMTs including nusinersen, risdiplam, and onasemnogene abeparvovec. Studies identified in this SLR, combined with the evidence hierarchy applied, comprise a foundational high-quality evidence base. This evidence was used to assess the feasibility of conducting comparative effectiveness analyses amongst comparator SMA DMTs for the JCA of OAV101 IT."

Clinical • Review • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases

FEASIBILITY OF INDIRECT TREATMENT COMPARISONS FOR OAV101 IT IN SPINAL MUSCULAR ATROPHY (ISPOR 2026) - "Based on clinical evidence for SMA DMTs, ITCs were feasible for OAV101 IT versus nusinersen and risdiplam in both DMT-naïve and -experienced populations aged ≥2 years. However, an ITC of OAV101 IT versus OAV101 IV was not feasible. These findings confirm that comprehensive feasibility assessments are necessary for informing evidence generation strategies across often wide-ranging populations and outcomes of interest to JCA and other HTAs."

Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases

Antisense Molecules: Design, Chemistry, and Therapeutic Innovations. (PubMed, Mini Rev Med Chem) - "Antisense oligonucleotides (ASOs) have been successfully approved by the FDA for the development of drugs such as Nusinersen (used for the treatment of spinal muscular atrophy) and Fomivirsen (used for treating Cytomegalovirus retinitis). ASOs offer a unique ability to target specific RNA sequences and help overcome limitations associated with traditional therapies."

Journal • CNS Disorders • Cytomegalovirus Infection • Genetic Disorders • Movement Disorders • Muscular Atrophy • Ocular Inflammation • Oncology • Ophthalmology • Rare Diseases • Retinal Disorders

Impairment of lip and tongue strength in symptomatic SMA1 patients: Results from a 4-center prospective study using the IOPI. (PubMed, J Neuromuscul Dis) - "IOPI measurements objectively demonstrate orofacial weakness in this population compared with healthy controls and may serve as a biomarker to monitor the impact of comprehensive management, including disease-modifying therapies, on oral swallowing function in SMA type 1."

Journal • CNS Disorders • Genetic Disorders • Movement Disorders • Muscular Atrophy • Pediatrics • Rare Diseases • SMN2

Clinical evaluation of ThecaFlex DRx, a novel implantable catheter-port for intrathecal nusinersen delivery in spinal muscular atrophy: Initial results from the PIERRE-IDE study. (PubMed, J Neuromuscul Dis) - P=N/A | "This interim report supports the feasibility of ThecaFlex DRx for Nusinersen administration, with long-term durability and effectiveness to be defined with longer follow-up.For more information about the PIERRE study (NCT05866419), visit: https://www."

Journal • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases

Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy. (PubMed, J Neuromuscul Dis) - P | "In recent years, the treatment landscape in the SMA setting has rapidly evolved with Nusinersen and Risdiplam receiving conditional approval via a Managed Access Agreement (MAA) in the UK. In this paper we describe the complexity of establishing such a study and clinical network including considerations for adapting this model to other disease areas. Further information on the Adult SMA REACH data collection study and clinical network can be found on the website (https://adultsmareach.co.uk/) and ClinicalTrials.gov (NCT06978985, https://clinicaltrials.gov/study/NCT06978985)."

Journal • Real-world evidence • CNS Disorders • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases

Longitudinal multi-omics profiling of spinal muscular atrophy. (PubMed, Neurotherapeutics) - "Nusinersen, the first approved in France, has dramatically transformed SMA management...By unveiling specific biomarkers, this study offers valuable insights for accurate disease diagnosis and monitoring treatment effectiveness. This enables personalized SMA management and accelerates the development of targeted therapies."

Journal • CNS Disorders • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases • NEFH • SMA4 • SMN1 • SMN2

Preventing spinal muscular atrophy through the national premarital screening program in Türkiye: an economic comparison with treatment costs. (PubMed, Turk J Med Sci) - "The annual costs of SMA treatment (with nusinersen and risdiplam) and the costs associated with carrier screening, genetic counseling, and IVF with PGT were compared. The SMA premarital carrier screening and prevention program in Türkiye significantly reduces healthcare expenditures and disease burden. Primary prevention through carrier screening is associated with lower overall costs than long-term treatment, offering both economic and social advantages for public health policy."

Clinical • Journal • CNS Disorders • Genetic Disorders • Gynecology • Movement Disorders • Muscular Atrophy • Rare Diseases

Response to "comment on CSF and plasma GFAP and VEGF in adult type 3 spinal muscular atrophy patients treated with nusinersen". (PubMed, J Neurol Sci) - No abstract available

Journal • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases • GFAP • VEGFA

A prospective, multi-center, observational study of the safety, tolerability and effectiveness of Nusinersen in adult patients with spinal muscular atrophy. (PubMed, Neuromuscul Disord) - "No new safety effects were identified. This study of nusinersen in adults with SMA demonstrates stability over time in contrast to the expected decline in untreated patients, with a favorable safety profile."

Journal • Observational data • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases • SMN2

Perceived Impact on the Daily Lives of Patients with Spinal Muscular Atrophy Treated with Nusinersen: A Natural Language Processing Approach. (PubMed, Am J Phys Med Rehabil) - "Caregivers perceive nusinersen as providing meaningful improvements in daily functioning beyond motor outcomes. Incorporating caregiver-reported insights through NLP may enrich treatment evaluation and support holistic, patient- and family-centered care in SMA."

Journal • CNS Disorders • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases • SMA4 • SMN1

Serial Compound Muscle Action Potential to Assess Improvement Following Gene Modifying and Replacement Therapies in Spinal Muscular Atrophy (AAN 2026) - "Serial median-APB and fibular-TA amplitudes are sensitive biomarkers able to assess motor-unit maturation following gene-replacement-therapy in SMA patients beyond infancy, while CHOP-INTEND scores plateaued at six months of life. Further analysis, correlating serial CMAP data with highest motor milestone achieved and its value in guiding treating teams to start combinatorial therapies (i.e. risdiplam, onasemnogene-abeparvovecxioi, nusinersen) are being explored."

Gene Therapies • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases • SMN2

Pediatric Spinal Muscular Atrophy Patients Treated With Nusinersen: Experience From a Tertiary Referral Center in Turkey. (PubMed, Pediatr Neurol) - "This cohort represents a heterogeneous symptomatic SMA population treated with nusinersen. This real-life data echoes that early initiation of treatment positively affects outcome with gains in motor function and/or stabilization and highlights emerging cognitive involvement. There is a mismatch in outcome parameters, and multidisciplinary care plays an ever-important role in the era of disease-modifying treatments."

Journal • CNS Disorders • Developmental Disorders • Epilepsy • Genetic Disorders • Movement Disorders • Muscular Atrophy • Pediatrics • Rare Diseases

Nusinersen effectiveness and safety in children with type II/III 5q-spinal muscular atrophy: Second interim analysis from a Chinese disease registry. (PubMed, Chin Med J (Engl)) - No abstract available

Journal • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases

Outcomes of combination therapy with nusinersen, onasemnogene abeparvovec, and risdiplam over 3.5 years in a patient with prenatally diagnosed spinal muscular atrophy type 0: A case report. (PubMed, Brain Dev) - "Early intervention with combined use of disease-modifying therapies may be beneficial for patients with severe spinal muscular atrophy phenotypes. However, since evidence of efficacy and safety of combination therapy is still lacking, great caution should be paid to this treatment strategy, taking the patient's clinical status into account."

Journal • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases

Spinal Muscular Atrophy-Survivorship and Care in a New Therapeutic Landscape. (PubMed, Pediatr Neurol) - "With improved function and survival, new questions are emerging around the role of combining multiple SMN-restoring therapies or SMN-restoring therapies with newer therapeutic agents targeting other pathways such as neuromuscular transmission or muscle growth. Additionally, with the earlier initiation of SMN-restoring disease-modifying therapies, the assessment of long-term treatment durability, motor function attained and retained, neurodevelopment, and potential emerging phenotypes or symptoms in individuals living with SMA will need to be explored."

Journal • Review • Amyotrophic Lateral Sclerosis • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases • SMA4 • SMN1

JAV-RARAS -HEALTHCARE INFRASTRUCTURE AS A COST DRIVER: A COST-INTEGRATED SYSTEM ANALYSIS OF TREATMENT ACCESS AND ECONOMIC BURDEN FOR SPINAL MUSCULAR ATROPHY IN BRAZIL (ISPOR 2026) - "Regional drug utilization and cost data for Nusinersen and Risdiplam (2024-2025) from DATASUS were linked to facility locations via geospatial analysis to assess cost disparities. Brazil has an estimated 1,300-2,500 SMA patients. Infrastructure inequity is a primary cost driver in SMA management. The absence of Reference Centers forces reliance on high-cost therapies, converting clinical access barriers into substantial economic burdens. Policy reforms must prioritize equitable infrastructure development, including expanding Reference Center networks and standardizing protocols to facilitate oral therapy access, to improve patient outcomes and ensure the fiscal sustainability of rare disease care."

HEOR • Genetic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases