The study highlights the benefits a robust genetic testing program can have, which ultimately has the potential to improve outcomes ATTRv is caused by more than 130 known mutations in the TTR gene and ...

The chronic use of a TGF-β-targeting phosphorodiamidate morpholino oligomer (PMO) and dystrophin exon-skipping PMO reduced muscle fibrosis and loss, restored dystrophin expression in skeletal and ...

Momelotinib treatment leads to clear clinical benefits in patients with myelofibrosis (MF), according to results from a real-world study. Rare Disease Advisor, a trusted source of medical news and ...

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

Eventually, I will run into a doctor who has never heard of Pompe and wants all the information about it from me. Rare Disease Advisor, a trusted source of medical news and feature content for ...

In this episode of the Rare Care podcast, Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kfir Oved, PhD, about the latest Israeli research on myasthenia gravis (MG). Dr. Oved ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

Gastrointestinal involvement in systemic mastocytosis (SM) is a common complication and often leads to endoscopic findings. Gastrointestinal (GI) symptoms are the second most frequent clinical ...

In CIDP, SOC therapies (immunoglobulins/corticosteroids) are burdensome, have variable efficacy, and significant side-effects. Two phase 3 clinical trials, MOBILIZE ...

Kine Sciences advanced KINE-101 to the phase 1b/2a study following the successful completion of a phase 1 study in the United States. The first patient in a new phase 1b/2a clinical trial to ...

The potential of axonal damage as a biomarker of disease severity and predictor of further outcomes is highlighted by its effect on functional disability, even in early disease stages. Patients who ...

Cells treated with ibrutinib and acalabrutinib each had a unique set of 13 m/z signals, which opens up the possibility of studying these metabolites as biomarkers of therapeutic response. Ibrutinib ...