Rare Disease Advisor

Systemic Mastocytosis Mimics Crohn Disease in 2-Patient Case Series

A 2-case series showed that SM can cause chronic gastrointestinal symptoms that may appear like Crohn disease or functional ...
Rare Disease Advisor

Seralutinib New Drug Application Submitted to FDA for PAH

Gossamer Bio has submitted a New Drug Application to the FDA seeking approval of seralutinib for pulmonary arterial ...
Rare Disease Advisor

FDA Accepts NDA for Bezuclastinib in the Treatment of Advanced SM

The FDA has accepted a new drug application (NDA) for bezuclastinib, a novel tyrosine kinase inhibitor, in the treatment of ...
Rare Disease Advisor

Hemodynamic Staging Helps Stratify Risk in ATTR-CM

A noninvasive hemodynamic staging system separates patients with ATTR-CM into distinct prognostic categories, according to a ...
Rare Disease Advisor

AI Shows High Potential but Variable Accuracy in ATTR-CM Screening

Research shows AI applied to routine cardiovascular data could aid the detection of ATTR-CM, but diagnostic performance ...
Rare Disease Advisor

How My Mom’s MG Diagnosis Changed Our Relationship Forever

Upon her mother’s myasthenia gravis (MG) diagnosis, a daughter was catapulted into the roles of caregiver, translator, and ...
Rare Disease Advisor

In FCS, LPL Deficiency May Drive Lower Lp(a) Levels Than Genetics Predict

The researchers attributed lower Lp(a) levels to “the class and metabolic processing of triglyceride-rich lipoproteins, ...
Rare Disease Advisor

Comorbid Extrahepatic Autoimmune Disease May Not Affect PBC Prognosis

Comorbid extrahepatic autoimmune disease does not appear to affect the prognosis or treatment response for patients with PBC.
Rare Disease Advisor

CAR T-Cell Therapy Consensus Recommendations Updated for MG and Other Autoimmune Diseases

According to the experts, clinicians should consider CAR T-cell therapy for patients with severe autoimmune disease that ...
Rare Disease Advisor

Managing Familial Chylomicronemia Syndrome During Pregnancy

FCS requires careful monitoring during pregnancy to limit the risk for acute pancreatitis, which threatens both fetal and ...
Rare Disease Advisor

Gaucher Disease Data Help Researchers Clarify GBA1-Linked Parkinson Disease Risk

Biochemical data from Gaucher disease (GD) may improve how GBA1 variants are classified, helping to clarify carriers’ Parkinson disease risk.
Rare Disease Advisor

Ductular Remodeling Distinguishes Recurrent PBC From Rejection

Ductular reaction consistently favored recurrent PBC over rejection, while venous endothelial inflammation favored rejection.