Diogo Pinto,  —

Sanfilippo Diagnosis May Lead to Mental Health Issues for Parents of Patients, Study Reports

A diagnosis of Sanfilippo syndrome may result in the parents of patients developing psychological disorders, including depression, anxiety, distress (extreme anxiety), and post-traumatic stress, a Dutch study reveals. The study, “Psychosocial functioning in parents of MPS III patients,” was published in JIMD Reports. Sanfilippo syndrome, or…

Abeona to Begin Its Phase 1/2 Gene Therapy Trial for Sanfilippo Type B in Spain

Abeona Therapeutics will begin a Phase 1/2 clinical trial in Spain testing the company’s investigational gene therapy ABO-101 in patients with Sanfilippo syndrome type B. The company has received approval from the Spanish Agency for Medicines and Health Products (AEMPS) and will start the trial at University Hospital of Santiago…

Sanfilippo Found in Boy Despite Negative Urine Test, Calling Attention to Misdiagnosis Risk

An atypical case of Sanfilippo syndrome, in which symptoms were evident but urine tests proved negative, highlights the heterogeneous nature of this condition and the likelihood of an initial misdiagnosis. The study, “Delayed speech hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?,” was published in the Journal of…