Last updated on August 2018

Biomarker for Hunter Disease


Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: Hunter's Syndrome | Mucopolysaccharidosis | Lysosomal Storage Disease
  • Age: - 100 Years
  • Gender: Male or Female

Inclusion Criteria:

  • Informed consent will be obtained from the patient and their parents/legal guardians before any study related procedures.
  • Patients from the first day of life
  • The patient has a diagnosis of Hunter syndrome based upon biochemical and/or genetic criteria or patients who are profoundly suspicious for Hunter disease

High-grade suspicion present, if one or more criteria are valid:

  • Positive family anamnesis for Hunter syndrome
  • Cognitive regression, learning disability or neurocognitive involvement of unrecognized origin
  • Tonic-clonic seizures without identifiable cause
  • Eye symptoms without identifiable cause: corneal clouding or glaucoma
  • Pulmonary symptoms without identifiable cause:

upper airway obstruction, cardiopulmonary disease

Exclusion Criteria:

  • No Informed consent from the patient and their parents/legal guardians before any study related procedures.
  • No diagnosis of Hunter syndrome or no valid criteria for high-grade suspicion of Hunter syndrome

Recruitment Status: Open


Brief Description Eligibility Contact Research Team


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