Rare Diseases

The phase 3 clinical program for salanersen, an investigational intrathecally administered antisense oligonucleotide, will test the efficacy of the agent across infants, adolescents and adults living with SMA.

Nestor Galvez-Jimenez, MD, a neurologist at Baptist Health Miami Neuroscience Institute, discussed how advancements have changed the landscape of care for patients living with spinal muscular atrophy.

Dustin Gable, MD, PhD, a pediatric neuromuscular neurologist at Johns Hopkins Medicine, discussed why bulbar dysfunction remains an underrecognized burden among patients with spinal muscular atrophy.

Nicholas Streicher, MD, MPH, an assistant professor of neurology at Georgetown University, discussed the training, handoff, and coding gaps that can leave adults with spinal muscular atrophy without follow-up care.

Alexandra Bonner, MD, a pediatric neuromuscular neurologist at Cleveland Clinic, discussed why real-time communication between specialists is the hardest part of multidisciplinary care for patients with spinal muscular atrophy.

Alexandra Bonner, MD, a pediatric neuromuscular neurologist at Cleveland Clinic, discussed which specialties are essential to a spinal muscular atrophy care team and why anticipating future needs has become central to the work.

W. Bryan Burnette, MD, chief of neurology at Nemours Children’s Health in Jacksonville, Florida, discussed why access to adult subspecialty care has become one of the largest remaining challenges in spinal muscular atrophy.

Senda Ajroud-Driss, MD, director of the ALS Clinic at Northwestern Medicine, discussed why adults with spinal muscular atrophy continue to need multidisciplinary care and where the evidence still falls short.

Divya Jayaraman, MD, PhD, a pediatric neuromuscular specialist at Columbia University Irving Medical Center, discussed the comparative evidence gaps in spinal muscular atrophy and the difficulty of moving patients into adult care.

Sandeep Rana, MD, director of the ALS Center at the Allegheny Health Network Neuroscience Institute, discussed how multidisciplinary clinics are assembled and what still limits access to coordinated care in spinal muscular atrophy.

Divya Jayaraman, MD, PhD, a pediatric neuromuscular specialist at Columbia University Irving Medical Center, discussed how multidisciplinary care teams in spinal muscular atrophy are adapting to a growing number of treatment options.

In recognition of SMA Awareness Month, held annually throughout August, NeurologyLive® summarized the latest literature on the multidisciplinary care approach for patients living with spinal muscular atrophy.

Spinogenix’s codabakalner, an investigational BK channel modulator, is currently being evaluated in CLARITY, a phase 2b/3 trial for the treatment of patients with Fragile X syndrome.

Experts shared their clinical perspectives and insights on main focus areas at the 2026 American Academy of Neurology (AAN) Annual Meeting, held April 18-22 in Chicago, Illinois.

In honor of International Pompe Day, held April 15, 2026, NeurologyLive reviewed recent studies on the latest research and evolving standards of care for Pompe disease.

International Pompe Day highlights advances in molecular diagnostics, newborn screening, and enzyme replacement therapy that have reshaped the recognition and management of Pompe disease over the past century.

MOGAD Awareness Month highlights the evolution of myelin oligodendrocyte glycoprotein antibody–associated disease from a once-misclassified condition to a distinct neuroimmunologic disorder.

Stay informed on the latest therapeutic advancements with this clinical recap from the NeurologyLive® team, featuring a centralized look at 7 FDA-approved treatments from the first quarter of 2026.

Early clinical and real-world data suggest meningococcal vaccination is associated with a low risk of short-term relapse in patients with anti–aquaporin-4 antibody–positive NMOSD.

Early-phase 1b trial data showed that ANX005 is generally safe and engages its complement target in Huntington disease.

The POLARIS program includes 3 ongoing phase 1/2 clinical trials investigating the efficacy and safety of investigational gene therapy EXT101 in patients with SCN1A postive Dravet syndrome.

Levacetylleucine met its primary end point in a phase 3 trial of patients living with ataxia-telangiectasia, with no drug-related serious adverse events reported, supporting the sNDA.

Global site reactivation for the MAGNITUDE-2 trial of nexiguran ziclumeran in hereditary transthyretin amyloidosis with polyneuropathy is underway, with enrollment completion expected in the second half of 2026.

Annexon submitted an EMA marketing application for tanruprubart, a first-in-class C1q monoclonal antibody that showed faster and more complete recovery in Guillain-Barré syndrome patients across randomized trials.

The expert panel discusses management of family expectations regarding post-therapy outcomes and strict patient monitoring. O painel de especialistas discute como lidar com expectativas das famílias em relação a resultados terapêuticos e em períodos de monitoramento rigoroso.