Recent findings from research done at the University of Pennslyvania indicate a new biomarker associated with a group of rare metabolic diseases called mucopolysaccharidoses (MPS).
A biomarker is a measurable substance in an organism whose presence indicates an abnormal phenomenon occurring in the body, such as disease or infection. Thus, the discovery of new biomarkers helps patients and their families better understand a diagnosis and the associated prognosis, as well as offers up new avenues of treatment.
In this case, the new biomarker is a cerebrospinal fluid (CSF) compound called spermine.
Specifically, this new MPS biomarker would help measure the extent of central nervous system damage in patients, and until this time, there has not had a viable objective way to do this, hindering the development of treatments for the neurological symptoms of MPS.
Researchers tested their theory using canine models and mouse cells. After screening metabolites from these models with MPS I, in particular, a marked elevation of spermine was found. Later gene therapy was able to lower the amount CSF spermine and correct brain lesions in these animals.
This work proves consistent with the fact that spermine in humans is higher in the CSF of all MPS subtypes that exhibit cognitive decline and not elevated in the two subtypes that do not.
Even though the only way of reducing CSF spermine and improve cognitive function in humans is by hematopoietic stem cell transplantation, these new findings suggest that the use of measuring CSF spermine in future clinical trials could greatly simplify the drug development process.
Knowing the value of this research to the MPS community, research director, Dr. Christian Hinderer, has pledged to offer full, completely free access to this biomarker for rare disease research, announcing open collaboration in early treatment development.
Hopefully, CSF spermine was the missing piece of the puzzle in MPS research, and much needed, more novel, tailored clinical trials and treatment will come to the MPS community in the coming months.
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