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)

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 by Shire
Sponsor:
Information provided by (Responsible Party):
Shire
ClinicalTrials.gov Identifier:
NCT02095015
First received: March 20, 2014
Last updated: September 17, 2014
Last verified: September 2014
  Purpose

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.


Condition
Mucopolysaccharidosis
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis VI

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: 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)

Resource links provided by NLM:


Further study details as provided by Shire:

Primary Outcome Measures:
  • The status of diagnosis of MPS II (either positive or negative) of each subject [ Time Frame: Screening visit ] [ Designated as safety issue: No ]
    To evaluate the positive screening rate of MPS II subjects by screening a high risk male pediatric population.


Secondary Outcome Measures:
  • The status of diagnosis of MPS I or VI (either positive or negative) of each subject [ Time Frame: Screening visit ] [ Designated as safety issue: No ]

Estimated Enrollment: 1500
Study Start Date: March 2014
Estimated Study Completion Date: December 2015
Estimated Primary Completion Date: October 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
Analysis population
All subjects enrolled in the study who meet the eligibility criteria

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.

  Eligibility

Ages Eligible for Study:   up to 7 Years
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No
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.

Criteria

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02095015

Contacts
Contact: MedInfo Shire 1-866-888-0660 US_ShireHGT_Medicalinformation@shire.com

  Show 21 Study Locations
Sponsors and Collaborators
Shire
Investigators
Study Director: Tom Pulles, MD Shire
  More Information

No publications provided

Responsible Party: Shire
ClinicalTrials.gov Identifier: NCT02095015     History of Changes
Other Study ID Numbers: SHP-001-801
Study First Received: March 20, 2014
Last Updated: September 17, 2014
Health Authority: Canada: Ethics Review Committee
Germany: Ethics Commission
Italy: Ethics Committee
Mexico: Federal Commission for Sanitary Risks Protection
Russia: Ethics Committee
Spain: Ethics Committee
Turkey: Ministry of Health
United Kingdom: Research Ethics Committee
United States: Institutional Review Board

Keywords provided by Shire:
Mucopolysaccharidosis
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis VI
MPS
MPS I
Hurler, Hurler-Scheie, or Scheie syndrome
MPS II
Hunter syndrome
MPS VI
Maroteaux-Lamy syndrome
iduronate-2-sulfatase
ENT
ear, nose and throat

Additional relevant MeSH terms:
Mucopolysaccharidoses
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis VI
Hernia, Umbilical
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases
Infant, Newborn, Diseases
Hernia, Ventral
Hernia, Abdominal
Hernia
Pathological Conditions, Anatomical
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System

ClinicalTrials.gov processed this record on September 18, 2014