Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
About this clinical trial
Mucopolysaccharidosis (MPS) type II (MPS II; Hunter syndrome) is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S) and occurs almost exclusively in boys, with an incidence of approximately 1.3 per 100,000 live male births.1 Early identification of MPS II is challenging because some initial features, such as chronic runny nose, otitis media, and hernias, are commonly seen in the general population. As a result, even though the signs and symptoms of MPS II typically appear early in childhood, the diagnosis may lag behind by several years. The primary objective of this international multi-center study is to evaluate the positive screening rate of MPS II subjects by screening a high-risk male pediatric population who have had or are scheduled for 1 or more specific ENT surgical procedures (adenoidectomy and/or tonsillectomy and/or tympanostomy) and who have a previously repaired or present evidence of an inguinal and/or umbilical hernia.
At a glance
What medical conditions were being studied?
How many participants were enrolled?
159
When was the clinical trial conducted?
May 2014 - Aug 2015
How long was participation in the clinical trial?
Study participation will include 1 site visit, where medical and surgical history information will be collected and blood samples will be taken for analysis. For confirmed MPS diagnoses, there will be recommendations for follow up visits.
Key requirements
Sex
Male
Age
Up to 7 years
Healthy volunteers?
No
Inclusion Criteria:
Each subject must meet the following criteria to be enrolled in this study:
1. The subject is male.
2. The subject is <7 years of age.
3. The subject has had or is scheduled for ENT surgery for any of the following, alone or
in combination: adenoidectomy, tonsillectomy, and tympanostomy.
4. The subject has record of previous surgical repair or presence of inguinal and/or
umbilical hernia.
5. The subject's parent(s) or the subject's legally authorized representative(s) has
provided written informed consent that has been approved by the Institutional Review
Board/Independent Ethics Committee (IRB/IEC).
Exclusion Criteria:
Subjects who meet any of the following criteria will be excluded from the study:
1. The subject has a current confirmed diagnosis of any MPS disorder.
2. The subject was born prematurely (defined as born before 37 weeks gestation).
3. The subject has received a blood transfusion within the past 6 weeks.
4. The subject has received a bone marrow transplant.