Genetic Disorders

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.

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.

FDA accepts Ultragenyx’s UX111 gene therapy BLA for Sanfilippo A, setting a September 2026 decision date.

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.

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.

New data from the pivotal study of investigational therapy zilganersen in Alexander disease will be presented at the 2026 American Academy of Neurology (AAN) annual meeting in Chicago.

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.

IntraBio reported that levacetylleucine showed symptom improvement in the phase 3 IB1001-303 study for ataxia-telangiectasia, and it intends to proceed with regulatory submissions in multiple regions.

Based on the positive data, the company plans to begin a phase 3 trial assessing FLT203 in patients with Gaucher disease type 1 in the second half of 2025.

The trial is expected to include 14 individuals with genetically confirmed limb-girdle muscular dystrophy who will be randomly assigned 1:1 to either AB-1003 or placebo for a year-long treatment period.

In a dose-ranging study, the gene therapy achieved 78% Gb3 substrate clearance at 6 months and 77% reduction in urine podocyte loss in 1 of the first kidney biopsies.

To honor Black History Month, NeurologyLive® spoke with influential Black clinicians on the leaders they look up to, the ongoing fight to overcome racial disparities, and ways to encourage diversity in health care.

To honor Black History Month, NeurologyLive® spoke with influential Black clinicians on the leaders they look up to, the ongoing fight to overcome racial disparities, and ways to encourage diversity in health care.

To honor Black History Month, NeurologyLive® spoke with influential Black clinicians on the leaders they look up to, the ongoing fight to overcome racial disparities, and ways to encourage diversity in health care.

To honor Black History Month, NeurologyLive® spoke with influential Black clinicians on the leaders they look up to, the ongoing fight to overcome racial disparities, and ways to encourage diversity in health care.

To honor Black History Month, NeurologyLive® spoke with influential Black clinicians on the leaders they look up to, the ongoing fight to overcome racial disparities, and ways to encourage diversity in health care.

To honor Black History Month, NeurologyLive® spoke with influential Black clinicians on the leaders they look up to, the ongoing fight to overcome racial disparities, and ways to encourage diversity in health care.

The trial provided Class IV evidence that VY-AADC01 and the associated surgical delivery procedure were well-tolerated in patients aged 40 to 70 years with moderately advanced Parkinson disease.