Articles related to RARE DISEASES

CheckRare provides a list of the orphaned drugs that dominate the US pharmaceutical industry to start 2022. Orphan drugs are defined as those medications that remain commercially undeveloped because they’ve been deemed to have limited potential for profitability. However, nearly half of all novel medications approved by the FDA are orphan drugs.

DLBCL is increasingly being recognized as a heterogeneous disease with distinct molecular subtypes. This has challenged the rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) treatment paradigm in recent years, as several DLBCL subtypes have inferior survival after standard R-CHOP therapy. So how do you choose? In this review the authors conclude with proposed clinical management scenarios in which DA-R-EPOCH may be preferred, including some for patient populations in which the use of R-CHOP vs. DA-R-EPOCH is controversial.

ReachMD offers this CME/video case study on Duchenne Muscular Dystrophy (DMD), new genetic understandings, MET inhibitor use, and presentation with extra muscular manifestations. The program also highlights the challenges healthcare professionals face when it comes to diagnosing this complex condition.

Can you differentiate between bradykinin-mediated angioedema and the more common histamine-mediated angioedema? How significant is a delayed diagnosis? Do you favor on-demand or preventative therapy? What is the recommended therapy? Access to specialist care and effective treatment in the past 10 years has improved the quality of life and reduced the mortality rate in patients with hereditary angioedema. This wide-ranging report from the British Journal of Hospital Medicine covers emerging treatments and outlines where we’ve been, where we are, and where we’re going in hereditary angioedema (HAE) care.

Often undiagnosed due to its unspecific symptoms, hereditary angioedema (HAE) is a tricky condition that causes many patients unnecessary suffering with unnecessary surgeries and invasive diagnostic/therapeutic interventions. Read on to educate yourself on some of the alarming numbers on the orphan disease.   

Despite aggressive therapy, the 5-year survival rate for patients with metastatic or recurrent rhabdomyosarcoma – the most common soft tissue sarcoma of childhood – remains poor, and beyond PAX-FOX01 fusion status, no genomic markers are available for risk stratification. This international consortium study was designed to determine the incidence of driver mutations and their association with clinical outcome.