Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Ske… (NCT01675674) | Clinical Trial Compass
TerminatedNot Applicable
Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
Stopped: Funding withdrawn due to insufficient enrollment rate
United States3,000 participantsStarted 2011-09
Plain-language summary
This study is being done to learn how many children and young adults who come to pediatric rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types of MPS: I, II, IVA, and VI. This can help researchers decide whether to create a screening program for MPS at pediatric rheumatology clinics. This study is being done in rheumatology clinics because the first symptoms of MPS are often joint problems such as stiff joints, and rheumatologists may be the first doctors that a patient with MPS visits. The study will also evaluate the utility of dried blood spot testing for MPS.
Who can participate
Age range6 Months – 18 Years
SexALL
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Inclusion criteria
✓. 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):
✓. Age of at least 6 months.
✓. Age under 18 years at time of initial clinic presentation.
✓. 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
✕. Under 6 months of age.
✕. Over 18 years of age at initial clinic presentation.
✕. Patients who have had confirmation of an MPS disorder by biochemical analysis and/or by molecular biology.
✕. 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.)
What they're measuring
1
Incidence of previously unrecognized MPS I, II, IVA, and VI in children presenting to pediatric rheumatology, hand, or skeletal dysplasia clinics
Timeframe: At study completion (approximately 18 months after the beginning of the study)
✕. Subject unwilling or unable to provide the necessary blood spot for analysis.
✕. 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.