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)

NCT02095015 | Terminated

• 1 other identifier: SHP-001-801
• Study Type: observational
• Target: 159
• Locations: 7 countries
• Sites: 14

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.

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

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• The status of diagnosis of MPS I or VI (either positive or negative) of each subject

  Screening visit

Study Arms (1)

Analysis population

All subjects enrolled in the study who meet the eligibility criteria

Eligibility Criteria

• Age: Up to 7 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• 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.

You may qualify if:

• Each subject must meet the following criteria to be enrolled in this study:
• The subject is male.
• The subject is \<7 years of age.
• The subject has had or is scheduled for ENT surgery for any of the following, alone or in combination: adenoidectomy, tonsillectomy, and tympanostomy.
• The subject has record of previous surgical repair or presence of inguinal and/or umbilical hernia.
• 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).

You may not qualify if:

• Subjects who meet any of the following criteria will be excluded from the study:
• The subject has a current confirmed diagnosis of any MPS disorder.
• The subject was born prematurely (defined as born before 37 weeks gestation).
• The subject has received a blood transfusion within the past 6 weeks.
• The subject has received a bone marrow transplant.

Sponsors & Collaborators

• Shire: lead

Study Sites (14)

Children's Hospital Los Angeles

Los Angeles, California, 90027, United States

Location

Nemours Children's Clinic

Jacksonville, Florida, 32207, United States

Location

Children's Hospital and Clinic

Minneapolis, Minnesota, 55404, United States

Location

Saint Louis Children's Hospital

St Louis, Missouri, 63110, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

Location

Intermountain Ear Nose and Throat Center

Salt Lake City, Utah, 84102, United States

Location

Montreal Children's Hospital

Montreal, Quebec, H3H 1P3, Canada

Location

Ospedale San Gerardo

Monza, 20900, Italy

Location

Ospedale Pediatrico Bambino Gesù

Passoscuro, 00050, Italy

Location

Christus Muguerza del Parque, S.A. de C.V.

Chihuahua City, 31000, Mexico

Location

Hospital de Cruces

Barakaldo, 48903, Spain

Location

Hacettepe Universitesi Tip Fakultesi Hastanesi

Ankara, 06100, Turkey (Türkiye)

Location

Royal Manchester Children's Hospital

Manchester, M13 9WL, United Kingdom

Location

Related Links

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

MeSH Terms

Conditions

Mucopolysaccharidoses; Sudden Infant Death; Mucopolysaccharidosis VI; Mucopolysaccharidosis II; Mucopolysaccharidosis I

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Death, Sudden; Death; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Infant Death; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System

Study Officials

• Study Director

  Takeda

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 20, 2014
• First Posted: March 24, 2014
• Study Start: May 21, 2014
• Primary Completion: August 14, 2015
• Study Completion: August 14, 2015
• Last Updated: March 17, 2021

Record last verified: 2021-03

Locations

IT (2); US (7); ME (1); GB (1); CA (1); ES (1); TU (1)