AANS Neurosurgeon | Volume 26, Number 3, 2017

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New Biomarker Found for Group of Rare Metabolic Diseases

Development may facilitate quicker, more accurate diagnosis to aid in future clinical trials

 

A newly discovered biomarker associated with a rare metabolic disorder may facilitate better diagnosis and identification of new drugs for clinical trials for the disease, according to researchers in the Perelman School of Medicine at the University of Pennsylvania. Development of treatments for the neurological symptoms of  mucopolysaccharidoses (MPS), a family of rare genetic disorders, have been hindered by the lack of objective measures of the extent of central nervous system (CNS) damage in patients.

“This new biomarker for CNS symptoms in MPS patients may help families better understand their child’s diagnosis and prognosis and should help clinicians and regulatory agencies to evaluate the efficacy of new therapies,” said senior author James Wilson, MD, PhD, a professor of Medicine and director of the Orphan Disease Center (ODC) at Penn.

MPS I is the most common form of this group of diseases and is caused by a deficiency of the key enzyme IDUA needed to break down complex sugars in cells. The disorder eventually leads to the abnormal accumulation of sugar fragments and cell death. The two main treatments are bone marrow transplantation and intravenous enzyme replacement therapy; however, neither of these treatments cure the disorder, especially when the disease enters the central nervous system.

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