February 2023

“Improving Characterization of Neuromuscular Involvement in Adults with Cystinosis”. Beside the consequences of renal failure, long-term prognosis of cystinosis seems to be related to neuromuscular complications. The main manifestations of neuromuscular involvement have been described in previous studies, emphasizing hand muscle weakness, respiratory insufficiency, and swallowing impairment. However, the long-term consequences and natural history of …

Research Progress Report by Pascal Laforêt, MD, PhD and Hélène Prigent, MD, PhD, Raymond Poincaré University Hospital, Garches, France Read More »

“Optimizing Dysphagia Assessments Using MBSImP in Adults with Nephropathic Cystinosis”. Swallowing difficulty is a major concern in patients with nephropathic cystinosis. The results of this research study will help researchers better understand how swallowing is affected in patients with cystinosis and will yield better potential targets for treatment. Drs. Seyedsadjadi and Eichler, expect to better …

Research Progress Report by Reza Seyedsadjadi, MD, and Florian Eichler, MD, Massachusetts General Hospital, Boston, Massachusetts Read More »