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)

Mucopolysaccharidosis (MPS) Clinical Trial

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)

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT02095015
• Other study ID #: SHP-001-801
• Status: Terminated
• Start date: May 21, 2014
• Est. completion date: August 14, 2015

Study information

• Verified date: March 2021
• Source: Takeda
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 159
• Est. completion date: August 14, 2015
• Est. primary completion date: August 14, 2015
• Accepts healthy volunteers: No
• Gender: Male
• Age group: N/A to 7 Years

Eligibility

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.

Related Conditions & MeSH terms

• Hernia, Umbilical
• Mucopolysaccharidoses
• Mucopolysaccharidosis (MPS)

Locations

Country	Name	City	State
Canada	Montreal Children's Hospital	Montreal	Quebec
Italy	Ospedale San Gerardo	Monza
Italy	Ospedale Pediatrico Bambino Gesù	Passoscuro
Mexico	Christus Muguerza del Parque, S.A. de C.V.	Chihuahua
Spain	Hospital de Cruces	San Vicente de Baracaldo
Turkey	Hacettepe Universitesi Tip Fakultesi Hastanesi	Ankara
United Kingdom	Royal Manchester Children's Hospital	Manchester
United States	Nemours Children's Clinic	Jacksonville	Florida
United States	Children's Hospital Los Angeles	Los Angeles	California
United States	Children's Hospital and Clinic	Minneapolis	Minnesota
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Children's Hospital of Pittsburgh of UPMC	Pittsburgh	Pennsylvania
United States	Saint Louis Children's Hospital	Saint Louis	Missouri
United States	Intermountain Ear Nose and Throat Center	Salt Lake City	Utah

Sponsors (1)

Lead Sponsor	Collaborator
Shire

Countries where clinical trial is conducted

United States,  Canada,  Italy,  Mexico,  Spain,  Turkey,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	The status of diagnosis of MPS I or VI (either positive or negative) of each subject		Screening visit

External Links

•   To obtain more information on the study, click here/on this link.