Rare Disease Advisor

Myasthenia Gravis Remains Persistently Inadequately Controlled in Nearly 1 in 5 Patients

Spanish experts established a consensus definition of adequate control in MG, finding that 17.7% of patients never achieve this status.
Rare Disease Advisor

An FCS Diagnosis Comes Too Late for a Mother and Son

A mother suffers a tragic loss before doctors confirm her children have FCS. This is the final installment in a 3-part diagnostic odyssey.
Rare Disease Advisor

Lipid Profiles Show Stage-Specific Changes in Huntington Disease

An analysis of lipid profiles in people with premanifest and early manifest HD suggests metabolic remodeling begins even before motor onset.
Rare Disease Advisor

Gastrointestinal Signs of SM Can Lead to a Misdiagnosis of Crohn’s Disease

A case report highlights an instance of indolent SM with gastrointestinal involvement that was initially misdiagnosed as Crohn's disease.
Rare Disease Advisor

Tirzepatide Response in Man With Mitochondrial Myopathy Raises GLP-1 Muscle Concerns

Researchers outlined a potential explanation for divergent responses to tirzepatide observed in a mitochondrial myopathy case and a BMD case.
Rare Disease Advisor

Rilzabrutinib Demonstrates Efficacy for Warm AIHA in Phase 2bTrial

Rilzabrutinib demonstrated durable efficacy and a favorable safety profile for the treatment of warm AIHA in the phase 2b LUMINA 2 trial.
Rare Disease Advisor

Study Identifies Factors Predicting Outcomes in Pleuroparenchymal Fibroelastosis

Pleuroparenchymal fibroelastosis shows a distinctive phenotype with frequent pleural complications, low body mass index, ...
Rare Disease Advisor

Study Identifies Potential New Therapeutic Target in PPF

New research demonstrated that neutrophils and CSF1 signaling contribute to the expansion of alveolar macrophages derived ...