Rare Disease Advisor

Caregivers of People With Dravet Syndrome, Other DEEs Want Their Providers to Talk About SUDEP

An international survey of caregivers of individuals with DEEs such as Dravet syndrome (DS) showed major gaps in ...
Rare Disease Advisor

High Clinical Heterogeneity Seen in Chinese Patients With ATTR

Patients with transthyretin amyloidosis (ATTR) in China demonstrated high clinical heterogeneity in the recent OverTTuRe ...
Rare Disease Advisor

HD Mouse Model Shows Sex-Dependent Mild Cardiac Dysfunction, Neurometabolic Changes

A humanized Huntington disease (HD) mouse model showed mild cardiac dysfunction and sex- and brain region-specific metabolic ...
Rare Disease Advisor

Creating Space for the Next Question in FSGS Care

A mother of 2 sons living with FSGS suggests that availability and timing plays a major role in addressing patients' ...
Rare Disease Advisor

A Patient With Pompe Disease Asks You to Take a Walk in His Shoes

If health care professionals could experience Pompe disease firsthand, they’d learn more than any textbook or lab result ...
Rare Disease Advisor

CORE-5 Social Risk Screening Tool Reveals Unmet Needs in Black Patients With Generalized MG

The CORE-5 screening tool may be useful for evaluating social risk factors among Black patients with myasthenia gravis (MG).
Rare Disease Advisor

Case Report: Polycythemia Vera May Drive Secondary FSGS

Two case reports suggest that FSGS may occur secondary to polycythemia vera and that treatment should target the underlying ...
Rare Disease Advisor

FDA to Consider Fenebrutinib, BTK Inhibitor for Relapsing and Primary Progressive MS

The FDA has granted priority review to Roche’s New Drug Application for fenebrutinib in relapsing and primary progressive MS.
Rare Disease Advisor

Maternal Nipocalimab Treatment Reduces Adverse Neonatal Outcomes in Severe HDFN

A recent report on nipocalimab presented patient-level postnatal findings through the initial 24 months of life, such as ...
Rare Disease Advisor

Conduction Disease Precedes Hypertrophy in Men Who Carry Late-Onset Fabry Disease Variant

Men with Fabry disease who carry the IVS4+919G>A variant show progressive conduction disease, often beginning with RBBB and ...
Rare Disease Advisor

Quantitative CT Could Predict Disease Progression in PPF

Quantitative CT methods can facilitate the prediction of progression and the assessment of treatment efficacy in patients ...
Rare Disease Advisor

ANCA Positivity Not an Independent Predictor of ESKD in GPA or MPA

In patients with granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA), subtypes of antineutrophil cytoplasmic antibody ...