I haven’t seen a pulmonologist in 5 years, and I would highly recommend that anyone with Pompe disease make it a priority. Rare Disease Advisor, a trusted source of medical news and feature content ...

Researchers recently detailed the genetic and clinical features of congenital protein-losing enteropathy (PLE), with a focus on CHAPLE disease.

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 ...

Test Your Knowledge About the Genetics of Chronic Lymphocytic Leukemia Test Your Knowledge About the Prognosis of Chronic Lymphocytic Leukemia Test Your Knowledge About the Diagnosis of Chronic ...

From left: Samantha Masterson, president and CEO of the Myasthenia Gravis Foundation of America (MGFA); Angela Vincent, MBBS, winner of the MGFA’s first Lifetime Achievement Award; and Kevin O’Connor, ...

The Myasthenia Gravis Foundation of America presented its first panel of patients at its 15th annual conference, held in the Netherlands. THE HAGUE, Netherlands—Four women from four European countries ...

With a $48 billion annual budget, the US National Institutes of Health is the world’s largest public funder of biomedical research. Scientists worry that cuts in grant funding will interrupt, or even ...

Normalization of C1 inhibitor activity and C4 levels supported reclassification to type 3 disease after years of presumed type 2 angioedema. Reclassification of hereditary angioedema (HAE) subtype ...

Sickle cell disease is inherited in an autosomal recessive pattern, which means that a child is born with SCD only when they inherit 2 defective copies of the sickle cell gene (1 from each parent). If ...

Notably, the CRL did not identify safety or efficacy concerns. Aquestive Therapeutics, Inc. announced that the US Food and Drug Administration (FDA) has issued a complete response letter (CRL) for ...

A new phase 2 clinical trial to test the safety, efficacy, and tolerability of TAK-411 for the treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) is now open. The open-label, ...

Fenebrutinib demonstrated noninferiority to ocrelizumab in patients with PPMS, a population with limited treatment options. Genentech has reported that fenebrutinib reduced relapse rates in relapsing ...