A Study of Potential Treatment-Responsive Biomarkers in Hunter Syndrome

Clinicaltrials.gov ID# 04007536

This is a 2 part, multicenter, prospective, observational study of patients with MPS II to characterize disease related biomarkers in urine, blood, and CSF.  Glycosaminioglycan (GAG) levels are measured in CSF, serum and urine.  Additional biomarkers include cytokines, neurofilament light chain, and lysosomal lipids/proteins.  Neurodevelopmental and quality of life assessments are also measured. Part 1 includes patients with MPS II who are 2-10 years old, and Part 2 incudes patients with MPS II who are 2-30 years old at the time of enrollment. Participants may be on approved therapies for MPS II.  There will not be an investigational treatment administered during this study.  Participants must be age 2 to 30 years with confirmed diagnosis of MPS II based on induronate 2 sulfatase (IDS) enzyme activity and documented mutation in the IDS gene, and development quotient (DQ) <85 and/or decline in DQ in prior 6 months.  Patients with medically unstable conditions would be excluded.

Recruitment status: 3 sites in USA are actively recruiting, 3 international sites are recruiting.  BCH is not actively recruiting as yet.

PI:  Dr. Walla Al-Hertani

Contact information: 

Dr. Walla Al-Hertani  -- Walla.Al-Hertani@childrens.harvard.edu

Lora Pixley, study coordinator – Lora.Pixley@childrens.harvard.edu