Publications by authors named "K E Mengel"
Article Synopsis
- Pompe disease is a rare neuromuscular disorder caused by a deficiency in the enzyme GAA, leading to glycogen accumulation, and the study focuses on the long-term efficacy and safety of avalglucosidase alfa, a new enzyme replacement therapy for late-onset Pompe disease.
- In the clinical trials NEO1 and NEO-EXT, 24 participants received varying doses of avalglucosidase alfa, and most remained in the study for up to 6.5 years with no serious adverse events reported.
- Results showed that the treatment was generally well tolerated, maintaining stable respiratory function and walking ability over time, despite some participants developing antibodies against the drug without negative clinical effects.
Ceres is a partially differentiated dwarf planet, as confirmed by NASA's Dawn mission. The Urvara basin (diameter ~170 km) is its third-largest impact feature, enabling insights into the cerean crust. Urvara's geology and mineralogy suggest a potential brine layer at the crust-mantle transition.
View Article and Find Full Text PDFBackground: Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This prospective, multi-center, multinational longitudinal study aimed to characterize the clinical features of chronic forms of ASMD and disease burden over time in children and adults.
Results: Fifty-nine patients (31 males/28 females) ranging in age from 7 to 64 years with chronic ASMD types A/B and B and at least two disease symptoms participated from 5 countries.
Purpose: To assess olipudase alfa enzyme replacement therapy for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children.
Methods: This phase 1/2, international, multicenter, open-label trial (ASCEND-Peds/NCT02292654) administered intravenous olipudase alfa every 2 weeks with intrapatient dose escalation to 3 mg/kg. Primary outcome was safety through week 64.