Rare Diseases

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 shares clinical pearls for treatment and management of Spinal Muscular Atrophy. O painel de especialistas compartilha recomendações valiosas para o tratamento e manejo da atrofia muscular espinhal.

Dr Marcelo Kerstenetzky highlights areas of unmet needs in rare diseases education for healthcare professionals in Brazil. Dr Marcelo Kerstenetzky ressalta áreas de carência na educação sobre doenças raras para profissionais de saúde no Brasil.

The expert panel shares recommendations and advice for care teams and families of patients with spinal muscular atrophy. O painel de especialistas compartilha recomendações e conselhos para equipes de saúde e familiares de pacientes com atrofia muscular espinhal.

Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça and Marcelo Kerstenetzky examine barriers to participation in clinical trials in Brazil for patients with spinal muscular atrophy. Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça e Marcelo Kerstenetzky analisam barreiras para a participação de pacientes com atrofia muscular espinhal em testes clínicos no Brasil.

The expert panel discusses challenges in clinical monitoring and access to care for patients with spinal muscular atrophy in Brazil. O painel de especialistas discute desafios no monitoramento clínico e no acesso a atendimento de saúde para pacientes com atrofia muscular espinhal.

Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça and Adriana Banzzatto Ortega consider best practices for management based on the type of spinal muscular atrophy, age, and the therapy received. Drs Juliana Gurgel Giannetti, Rodrigo de Holanda Mendonça e Adriana Banzzatto Ortega consideram melhores práticas de conduta baseados no tipo de atrofia muscular espinhal, idade e terapia recebida.

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.

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.

Mitzi Williams, MD; Mirla Avila, MD; and Michael Levy, MD, PhD, highlight gaps in care in NMOSD therapy.

Drs Mirla Avila, Mitzi Williams, Michael Levy, and Michael Yeaman provide insight on goals of therapy and the importance of mental health and symptom management for patient populations with NMOSD.

Mitzi Williams, MD; Mirla Avila, MD; and Michael Levy, MD, PhD, discuss their approach to optimizing treatment selection when it comes to newer therapies, cost, and accessibility of therapies.

Experts in neurology share their experiences with how patients with NMOSD are utilizing health care, and helping patients achieve optimal care.

Mirla Avila, MD, leads a discussion on the impact of NMOSD on women’s health and the role of continued education for physicians.

Drs Michael Levy, Mirla Avila, Mitzi Williams, and Michael Yeaman assess atypical presentations of NMOSD and the importance of building trust in a patient-provider relationship.

Mirla Avila, MD; Mitzi Williams, MD; Michael Levy, MD, PhD; and Michael Yeaman, PhD, review the role of a multidisciplinary team and gaps in the chain of care in the management of NMOSD.

Experts in neurology share considerations and challenges for health care providers in diagnosing NMOSD, including education for non neurology health care providers and available diagnostic assays.

Mitzi Williams, MD, leads a discussion on the impact of the disease on quality of life for patients with NMOSD and their families.

Mirla Avila, MD; Michael Levy, MD, PhD; and Mitzi Williams, MD, share the clinical presentation and progression of NMOSD among various racial and ethnic groups and highlight the effects of socioeconomic disparities and personal barriers on access to proper care.

Drs Mitzi Williams, Mirla Avila, and Michael Levy comment on the differences in pathogenesis in various patient populations affected by NMOSD as it relates to genetics, comorbidities, and immune tolerance.