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Main
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Note: This record shows only 22 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register. |
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Register:
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ClinicalTrials.gov |
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Last refreshed on:
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19 February 2015 |
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Main ID: |
NCT01675674 |
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Date of registration:
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23/08/2012 |
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Prospective Registration:
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No |
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Primary sponsor: |
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Public title:
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Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
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Scientific title:
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Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population |
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Date of first enrolment:
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September 2011 |
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Target sample size:
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3000 |
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Recruitment status: |
Terminated |
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URL:
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http://clinicaltrials.gov/show/NCT01675674 |
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Study type:
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Observational |
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Study design:
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N/A
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Phase:
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N/A
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Countries of recruitment
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United States
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Contacts
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Contact type:
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Name:
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Thomas JA Lehman, MD |
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Address:
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Telephone:
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Email:
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Affiliation:
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Chief, Division of Pediatric Rheumatology, Hospital for Special Surgery; Professor of Clinical Pediatrics, Cornell University |
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Key inclusion & exclusion criteria
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Inclusion Criteria:
1. History of presenting to the pediatric rheumatology, pediatric hand, or skeletal
dysplasia clinic with at least ONE "highly suspicious" symptom or at least TWO "less
suspicious" symptoms that may be indicative of an MPS disorder (see below):
Highly suspicious symptoms:
- characteristic facial features
- hearing loss
- corneal clouding
- cardiac manifestations
- dysostosis multiplex
- hepatosplenomegaly
- spinal cord compression
- hydrocephalus
- carpal tunnel syndrome
- delayed mental development or regression in mental development
Less suspicious symptoms:
- short stature
- extensive Mongolian spots
- sleep apnea
- copious nasal discharge
- recurrent otitis media, ear fluid that will not drain, or the presence of ear
tubes
- frequent upper respiratory tract infections
- joint stiffness or limited range of motion
- hand problems (Claw hands or reduced hand function)
- hernia (inguinal or umbilical)
- abnormally shaped teeth
- dental cysts
- tooth abscess
2. Age of at least 6 months.
3. Age under 18 years at time of initial clinic presentation.
4. Written, signed, and dated informed consent obtained from the subject (if 18 years of
age) or the subject's parents (if under 18). Written, dated, and signed assent from
children is also required at some centers.
Exclusion Criteria:
1. Under 6 months of age.
2. Over 18 years of age at initial clinic presentation.
3. Patients who have had confirmation of an MPS disorder by biochemical analysis and/or
by molecular biology.
4. Patients for whom MPS enzyme activity tests (i.e., enzyme levels tested in
fibroblasts, leukocytes, serum, or blood spots) have already been performed, and for
which the result was normal. (Patients who have been screened for MPS through urinary
GAG and tested normal will not be excluded from the study.)
5. Written informed consent not available.
6. Subject unwilling or unable to provide the necessary blood spot for analysis.
7. Any other condition that would, in the opinion of the investigator, interfere with
the participant's ability to provide informed consent, comply with study
instructions, or possibly confound interpretation of study results.
Age minimum:
6 Months
Age maximum:
18 Years
Gender:
Both
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Health Condition(s) or Problem(s) studied
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Mucopolysaccharidosis I
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Mucopolysaccharidosis IV
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Mucopolysaccharidoses
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Mucopolysaccharidosis VI
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Mucopolysaccharidosis II
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Intervention(s)
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Other: Dried blood spot test for MPS
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Primary Outcome(s)
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Incidence of previously unrecognized MPS I, II, IVA, and VI in children presenting to pediatric rheumatology, hand, or skeletal dysplasia clinics
[Time Frame: At study completion (approximately 18 months after the beginning of the study)]
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Secondary Outcome(s)
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Utility of DBS testing to screen for MPS in pediatric patients
[Time Frame: At study completion (approximately 18 months after the beginning of the study)]
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Source(s) of Monetary Support
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Please refer to primary and secondary sponsors
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Results
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| Results available: |
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