Rare Diseases

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.

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.

Michael Levy, MD, PhD; Mitzi Williams, MD; and Mirla Avila, MD, examine the genetic, behavioral, and cultural determinants of NMOSD prevalence and incidence.

The 2021 AAN Meeting Hot Topics plenary focused on neurological facets of COVID-19, and featured insight from Anthony Fauci, MD, of NIAID, and Walter Koroshetz, MD, of NINDS, among others.

A recent analysis of UnitedHealthcare insurance claims revealed increases of almost 200% for some services between 2001 and 2016.

PTC Therapeutics announced the initiation of its third study of 2020 investigating vatiquinone.

These data follow a recent announcement from Sio Gene Therapies that the first patient in the high-dose cohort has been dosed.

The chief medical officer at Cure SMA spoke to the ongoing work that the organization does in advocating for patients with spinal muscular atrophy, particularly for newborn screening.

This additional application, supported by data from the GWPCARE6 trial, seeks to expand the indication of cannabidiol to include seizures associated with tuberous sclerosis complex.

Study data demonstrates that treatment with satralizumab reduces risk of relapses in patients with neuromyelitis optica spectrum disorder.

The regulatory agency cited 2 concerns in the complete response letter: the risk of infections related to intravenous infusion ports and renal toxicity.