Rare Diseases

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.

Drs Marcelo Kerstenetzky, Rodrigo de Holanda Mendonça and Adriana Banzzatto Ortega discuss role of primary care physicians and pediatricians in monitoring in SMA. Drs Marcelo Kerstenetzky, Rodrigo de Holanda Mendonça e Adriana Banzzatto Ortega discutem o papel de médicos da atenção primária e pediatras no monitoramento da atrofia muscular espinhal.

Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça and John Brandsema highlight the importance of multidisciplinary care teams in monitoring and rehabilitation of patients with spinal muscular atrophy. Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça e John Brandsema enfatizam a importância de equipes multidisciplinares no monitoramento e reabilitação de pacientes com atrofia muscular espinhal.

The expert panel comments on ideal patient profiles for SMA treatment with nusinersen, onasemnogene abeparvovec, and risdiplam. O painel de especialistas comenta os perfis ideais de pacientes para tratamento da atrofia muscular espinhal com nusinersena, onasemnogeno abeparvoveque e risdiplam.

Drs Rodrigo de Holanda Mendonça and Adriana Banzzatto Ortega discuss clinical trial data with nusinersen, onasemnogene abeparvovec, and risdiplam. Drs Rodrigo de Holanda Mendonça e Adriana Banzzatto Ortega discutem dados de testes clínicos com nusinersena, onasemnogeno abeparvoveque e risdiplam.

Take a look at 5 of the most-anticipated FDA pending approvals expected in 2023 that neurological researchers and clinicians should keep an eye out on.

Drs Juliana Gurgel Giannetti and Rodrigo de Holanda Mendonça provide an overview of available treatments for spinal muscular atrophy in Brazil. / Drs Juliana Gurgel Giannetti and Rodrigo de Holanda Mendonça discutem tratamentos para atrofia muscular espinhal disponíveis no Brasil.

Drs Juliana Gurgel Giannetti and Rodrigo de Holanda Mendonça discuss genetic changes in spinal muscular atrophy and genetic screening in Brazil. / Drs Juliana Gurgel Giannetti and Rodrigo de Holanda Mendonça discutem mudanças genéticas em atrofia muscular espinhal e screening genético no Brasil.

Drs Juliana Gurgel Giannetti, Adriana Banzzatto Ortega and Marcelo Kerstenetzky discuss symptoms of spinal muscular atrophy and diagnosis and referral process in Brazil. / Drs Juliana Gurgel Giannetti, Adriana Banzzatto Ortega e Marcelo Kerstenetzky discutem sintomas da atrofia muscular espinhal, diagnóstico e processo de encaminhamento no Brasil.

Dr Rodrigo de Holanda Mendonça provides an overview of spinal muscular atrophy (SMA). / Dr Rodrigo de Holanda Mendonça dá uma visão geral sobre Atrofia Muscular Espinhal (AME).

Drs Mirla Avila, Mitzi Williams, Michael Levy, and Michael Yeaman comment on research and development priorities for clinical care and emerging therapies for NMOSD.

Mitzi Williams, MD; Mirla Avila, MD; Michael Levy, MD, PhD; and Michael Yeaman, PhD, explore how health care professionals can better engage diverse racial and ethnic groups with NMOSD to improve care and enroll in clinical trials.

Experts in neurology review the occurrence and severity of infections in women and special patient populations with NMOSD and share their thoughts on the use of vaccines to prevent infections.

Michael Levy, MD, PhD, leads a discussion on the safety and efficacy of FDA-approved therapies for the management of NMOSD.