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)

March 16, 2021 updated by: Shire

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)

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.

Study Overview

Status

Terminated

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Actual)

159

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
    • Quebec
      • Montreal, Quebec, Canada, H3H 1P3
        • Montreal Children's Hospital
  • Italy
      • Monza, Italy, 20900
        • Ospedale San Gerardo
      • Passoscuro, Italy, 00050
        • Ospedale Pediatrico Bambino Gesù
  • Mexico
      • Chihuahua, Mexico, 31000
        • Christus Muguerza del Parque, S.A. de C.V.
  • Spain
      • San Vicente de Baracaldo, Spain, 48903
        • Hospital de Cruces
  • Turkey
      • Ankara, Turkey, 06100
        • Hacettepe Universitesi Tip Fakultesi Hastanesi
  • United Kingdom
      • Manchester, United Kingdom, M13 9WL
        • Royal Manchester Children's Hospital
  • United States
    • California
      • Los Angeles, California, United States, 90027
        • Children's Hospital Los Angeles
    • Florida
      • Jacksonville, Florida, United States, 32207
        • Nemours Children's Clinic
    • Minnesota
      • Minneapolis, Minnesota, United States, 55404
        • Children's Hospital and Clinic
    • Missouri
      • Saint Louis, Missouri, United States, 63110
        • Saint Louis Children's Hospital
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia
      • Pittsburgh, Pennsylvania, United States, 15224
        • Children's Hospital of Pittsburgh of UPMC
    • Utah
      • Salt Lake City, Utah, United States, 84102
        • Intermountain Ear Nose and Throat Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 7 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Sampling Method

Non-Probability Sample

Study Population

Males of any ethnic background or race, <7 years of age or under, who have had or are scheduled for adenoidectomy and/or tonsillectomy and/or tympanostomy (alone or in combination), will be enrolled. In addition, the subjects must have previous surgical repair or presence of inguinal and/or umbilical hernia.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Analysis population
All subjects enrolled in the study who meet the eligibility criteria

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Shire

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 21, 2014

Primary Completion (Actual)

August 14, 2015

Study Completion (Actual)

August 14, 2015

Study Registration Dates

First Submitted

March 20, 2014

First Submitted That Met QC Criteria

March 21, 2014

First Posted (Estimate)

March 24, 2014

Study Record Updates

Last Update Posted (Actual)

March 17, 2021

Last Update Submitted That Met QC Criteria

March 16, 2021

Last Verified

March 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • SHP-001-801

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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