Clinical trial NCT02095015: 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)
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)
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Mucopolysaccharidosis (MPS)
Keywords: MPS II
iduronate-2-sulfatase
Mucopolysaccharidosis VI
MPS
MPS VI
ear, nose and throat
Mucopolysaccharidosis II
Hunter syndrome
ENT
Mucopolysaccharidosis I
Hurler, Hurler-Scheie, or Scheie syndrome
Mucopolysaccharidosis
MPS I
Maroteaux-Lamy syndrome
Lead sponsor: Takeda
Sponsor class: INDUSTRY
First posted: 2014-03-24
Enrollment: 159
Sex: MALE
Maximum age (years): 7
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
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.

Brief 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.

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 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.

Primary outcomes:
measure: The status of diagnosis of MPS II (either positive or negative) of each subject
timeFrame: Screening visit
Secondary outcomes:
measure: The status of diagnosis of MPS I or VI (either positive or negative) of each subject
timeFrame: Screening visit
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Children's Hospital Los Angeles
state: California
city: Jacksonville
country: United States
facility: Nemours Children's Clinic
state: Florida
city: Minneapolis
country: United States
facility: Children's Hospital and Clinic
state: Minnesota
city: Saint Louis
country: United States
facility: Saint Louis Children's Hospital
state: Missouri
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Pittsburgh
country: United States
facility: Children's Hospital of Pittsburgh of UPMC
state: Pennsylvania
city: Salt Lake City
country: United States
facility: Intermountain Ear Nose and Throat Center
state: Utah
city: Montreal
country: Canada
facility: Montreal Children's Hospital
state: Quebec
city: Monza
country: Italy
facility: Ospedale San Gerardo
city: Passoscuro
country: Italy
facility: Ospedale Pediatrico Bambino Gesù
city: Chihuahua
country: Mexico
facility: Christus Muguerza del Parque, S.A. de C.V.
city: San Vicente de Baracaldo
country: Spain
facility: Hospital de Cruces
city: Ankara
country: Turkey
facility: Hacettepe Universitesi Tip Fakultesi Hastanesi
city: Manchester
country: United Kingdom
facility: Royal Manchester Children's Hospital
Study officials:
affiliation: Takeda
name: Study Director
role: STUDY_DIRECTOR
References: