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)

Study Overview
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Brief Summary
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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.

Detailed Description
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With evidence-based information from MPS registries regarding the types of surgical interventions that are most prevalent in MPS, this screening study is expected to provide the understanding of the role pediatric ENT surgeons can play in identifying young children with MPS.

Official Title
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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 Ear, Nose and Throat (ENT) Surgery (Adenoidectomy and/or Tonsillectomy and/or Tympanostomy) (The HATT Project)

Conditions
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Mucopolysaccharidosis (MPS)

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Each subject must meet the following criteria to be enrolled in this study: The subject is male. The subject is <7 years of age. The subject has had or is scheduled for ENT surgery for any of the following, alone or in combination: adenoidectomy, tonsillectomy, and tympanostomy. The subject has record of previous surgical repair or presence of inguinal and/or umbilical hernia. 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: The subject has a current confirmed diagnosis of any MPS disorder. The subject was born prematurely (defined as born before 37 weeks gestation). The subject has received a blood transfusion within the past 6 weeks. The subject has received a bone marrow transplant.

Ages Eligible for Study
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Maximum Age: 7 Years

Sexes Eligible for Study
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Male

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Analysis population<br>All subjects enrolled in the study who meet the eligibility criteria | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The status of diagnosis of MPS II (either positive or negative) of each subject | To evaluate the positive screening rate of MPS II subjects by screening a high risk male pediatric population. | Screening visit | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The status of diagnosis of MPS I or VI (either positive or negative) of each subject |  | Screening visit | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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MPS II, Hunter syndrome, ENT, Mucopolysaccharidosis I, Hurler, Hurler-Scheie, or Scheie syndrome, Mucopolysaccharidosis, MPS I, Maroteaux-Lamy syndrome, iduronate-2-sulfatase, Mucopolysaccharidosis VI, MPS, MPS VI, ear, nose and throat, Mucopolysaccharidosis II