Combination Therapy May Treat Rare Neurological Childhood Disorders by Karishma Abhishek on February 26, 2021 at 10:30 AM
New therapeutic technique for Fatal Sanfilippo syndrome - a rare genetic disorder that leads to childhood dementia and premature death in children as young as 2 years old, can bring a revolution in the approach to treating it, as per a study at Canadian Glycomics Network. lysosomal storage disorders occuring in pediatric patients that is characterized by the absence or defectiveness of the enzymes, needed for the breakdown of certain sugars. These sugars then begin to build up in the brain, causing severe damage.
Symptoms include
A new combination therapy for treating rare, fatal Sanfilippo syndrome in children
A study aiming to develop a new therapeutic technique could bring a revolution in our approach to treating rare, fatal Sanfilippo syndrome, a disorder that affects children as young as 2 years old and leads to childhood dementia and premature death.
We are using a combination of gene therapy, stem cells and small molecules to restore metabolic defects in the patient s brain cells. First results in the mouse models of the disease are very encouraging.
Dr. Alexey Pshezhetsky, Professor at CHU Ste-Justine and Lead GlycoNet Investigator
Sanfilippo syndrome belongs to a group of rare diseases known as lysosomal storage disorders.
Weâll never give up hope Scots dadâs vow as young daughter battles ultra-rare âAlzheimer s styleâ condition
Little Sophia Scottâs mind and body are âbreaking down bit by bit every dayâ due to Sanfilippo Syndrome.
Glasgow girl, Sophia Scott, is battling an âAlzheimer s styleâ illness that is breaking down her mind and body day by day. (Image: Darren Scott)
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WELLS, Maine – What’s better than blueberry pancakes? Blueberry pancakes that raise money to help children like 6-year-old Spencer Smith and others with Sanfilippo Syndrome, a rare genetic disorder often referred to as childhood Alzheimer’s disease.
Smith is the son of Nathan and Alison Spencer, who are good friends of Jim and Karen MacNeill, the owners of Maine Diner on U.S. Route 1. Now through Feb. 28, Maine Diner is donating every cent of its sales of blueberry pancakes to the Cure Sanfilippo Foundation, which is dedicated to raising funds, increasing awareness, fostering collaboration, supporting families and accelerating research, all in pursuit of finding a cure for the syndrome.