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)
| Status: | Terminated |
|---|---|
| Conditions: | Endocrine, Metabolic, Metabolic, Metabolic |
| Therapuetic Areas: | Endocrinology, Pharmacology / Toxicology |
| Healthy: | No |
| Age Range: | Any - 7 |
| Updated: | 8/29/2018 |
| Start Date: | March 1, 2014 |
| End Date: | August 14, 2015 |
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)
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.
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.
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.
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.
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.
We found this trial at
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Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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Nemours Children's Clinic At Nemours Children’s Clinic, Jacksonville, we've treated every child as we would...
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Childrens Hospital Los Angeles Children's Hospital Los Angeles is a 501(c)(3) nonprofit hospital for pediatric...
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4401 Penn Avenue
Pittsburgh, Pennsylvania 15224
Pittsburgh, Pennsylvania 15224
412-692-5325
Children's Hospital of Pittsburgh of UPMC UPMC is one of the leading nonprofit health systems...
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