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 has been terminated.
(terminated for not meeting enrollment goals)
Sponsor:
Information provided by (Responsible Party):
Shire
ClinicalTrials.gov Identifier:
NCT02095015
First received: March 20, 2014
Last updated: June 24, 2015
Last verified: June 2015
  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 ]

Enrollment: 160
Study Start Date: March 2014
Estimated Study Completion Date: September 2018
Estimated Primary Completion Date: August 2018 (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

Locations
United States, California
Children's Hospital Los Angeles
Los Angeles, California, United States, 90027
United States, District of Columbia
Children's National Medical Center
Washington, District of Columbia, United States, 20010
United States, Florida
Nemours Children's Clinic
Jacksonville, Florida, United States, 32207
United States, Minnesota
Children's Hospital and Clinic
Minneapolis, Minnesota, United States, 55404
United States, Missouri
Saint Louis Children's Hospital
St. Louis, Missouri, United States, 63110
United States, Ohio
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, United States, 15224
United States, Utah
Intermountain Ear Nose and Throat Center
Salt Lake City, Utah, United States, 84102
Canada, Quebec
Montreal Children's Hospital
Montreal, Quebec, Canada, H3H 1P3
Germany
HSK Dr. Horst Schmidt Kliniken GmbH
Wiesbaden, Hessen, Germany, 65199
Charité - Universitätsmedizin Berlin
Berlin, Germany, 13353
Italy
Ospedale San Gerardo
Monza, Italy, 20900
Ospedale Pediatrico Bambino Gesù
Passoscuro, Italy, 00050
Mexico
Hospital Universitario Dr. Jose Eleuterio González
Monterrey, Nuevo León, Mexico, 64460
Christus Muguerza del Parque, S.A. de C.V.
Chihuahua, Mexico, 31000
Spain
Hospital de Cruces
San Vicente de Baracaldo, Spain, 48903
Turkey
Hacettepe Universitesi Tip Fakultesi Hastanesi
Ankara, Turkey, 06100
United Kingdom
Royal Manchester Children's Hospital
Manchester, United Kingdom, M13 9WL
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: June 24, 2015
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
Connective Tissue Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System
Hernia
Hernia, Abdominal
Hernia, Ventral
Infant, Newborn, Diseases
Intellectual Disability
Lysosomal Storage Diseases
Mental Retardation, X-Linked
Metabolic Diseases
Metabolism, Inborn Errors
Mucinoses
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations
Pathological Conditions, Anatomical

ClinicalTrials.gov processed this record on July 01, 2015