Rare Disease Advisor

Elafibranor Leads to Durable Immune and Inflammatory Marker Reductions in PBC

Elafibranor produced sustained reductions in immunoglobulin and inflammatory markers through 156 weeks in patients with PBC.
Rare Disease Advisor

Sleep Disorders Signal Greater Disease Burden in Primary Biliary Cholangitis

Sleep disorders affected one-third of patients with primary biliary cholangitis (PBC) and were linked to poorer health status ...
Rare Disease Advisor

Refractory CAD May Serve as an Initial Presentation of Severe DLBCL

Refractory CAD may be an initial presentation of severe lymphoma, such as DLBCL, in which sutimlimab may be used as a ...
Rare Disease Advisor

Strain Imaging and Bone Scintigraphy Offer Value in Variant ATTR-CM Screening

Strain imaging and bone scintigraphy offer complementary value when screening TTR pathogenic variant carriers for ATTR-CM, a ...
Rare Disease Advisor

Study Identifies Factors Predicting Lung Transplant or Death in PPF

Impaired pulmonary function at the time of PPF onset seems to be associated with an increased risk of lung transplantation or ...
Rare Disease Advisor

Elafibranor Sustains Biochemical Gains in Primary Biliary Cholangitis

Elafibranor sustained biochemical improvements and a favorable safety profile through 3 years in patients with PBC.
Rare Disease Advisor

Ruxolitinib Offers Greatest Benefit at 6 Months in MF

A recent study found that ruxolitinib achieves maximum therapeutic benefit at 6 months in patients with myelofibrosis (MF).
Rare Disease Advisor

Concurrent FCS and Lipodystrophy Identified Within a Single Family

Genetic testing identified GPIHBP1 variants in a family with a history of FCS and revealed LMNA-associated lipodystrophy in ...
Rare Disease Advisor

Severe DLBCL May Initially Manifest as Refractory Cold Agglutinin Disease

Refractory CAD may be an initial presentation of DLBCL or other severe lymphomas, in which sutimlimab may be used as a ...
Rare Disease Advisor

OMNI Scale Shows Validity in Pediatric NMDs, Including Mitochondrial Myopathies

The OMNI scale showed good validity and reliability for assessing perceived exertion during the 6MWT in pediatric ...
Rare Disease Advisor

Researchers Uncover Why LOI Variant Leads to Faster Huntington Disease Progression

New research connects an HD LOI variant to somatic expansion specifically in MSNs, explaining its link to ...
Rare Disease Advisor

SGLT2 Inhibitors Improve Cardiovascular Outcomes in Fabry Disease: Real-World Data

A real-world analysis of SGLT2 inhibitors in Fabry disease showed sustained, meaningful reductions in cardiovascular risk and ...