Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
|Mucopolysaccharidoses Mucopolysaccharidosis I Mucopolysaccharidosis II Mucopolysaccharidosis IV Mucopolysaccharidosis VI||Other: Dried blood spot test for MPS|
|Official Title:||Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population|
- 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) ]Each patient is screened for MPS I, II, IVA, and VI after enrolling in the study. The results for all patients will be pooled when the study is completed (expected completion approx. 18 months after the study begins).
- 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) ]
For the secondary endpoint (utility of DBS testing), the following data will be collected: ease of taking and sending the DBS sample; number of errors of sample taking; adverse events (if any) associated with blood sampling by finger prick or venipuncture (for subjects over one year of age; choose whichever method is most convenient) or heel prick (for subjects under one year of age); and comfort of patients and/or their parents with the test.
Study personnel who performed DBS testing will also be asked to complete a brief survey about the utility of DBS testing.
|Study Start Date:||September 2011|
|Estimated Study Completion Date:||March 2014|
|Estimated Primary Completion Date:||March 2014 (Final data collection date for primary outcome measure)|
Dried blood spot test for MPS
For the prospective study, subjects will be drawn from all children (aged 6 months to 18 years) with a history of presenting to selected clinics (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 inclusion criteria).
For the retrospective chart review, subjects will be drawn from all children who were 6 months to 18 years of age at the time of first presentation to selected clinics (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 inclusion criteria).
Other: Dried blood spot test for MPS
The dried blood spot test uses a few drops of blood on filter paper to screen for mucopolysaccharidoses (MPS I, MPS II, MPS IVA and MPS VI in this study).
Other Name: DBS testing
MPS, or mucopolysaccharidosis (mew-co-paw-lee-sack-a-rid-o-sis), disorders are a group of rare inherited diseases that affect about 1 in every 25,000 people in the United States. There are 7 MPS disorders: MPS I (Hurler, Hurler-Scheie, and Scheie syndromes), II (Hunter syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), VI (Maroteaux-Lamy syndrome), VII (Sly syndrome), and IX (no other name). In people who have MPS, the body cannot break down certain materials in the body's cells. These materials then build up in the cells, causing problems such as stiff joints, misshapen bones, curled hands and reduced hand function, frequent ear infections, vision and hearing problems, "thickened" facial features, and heart problems. Getting access to diagnosis and treatment can help make MPS easier to manage; but unfortunately, people with MPS may go undiagnosed for many years.
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 use dried blood spot (DBS) testing to screen for these types of MPS. It will also use a survey to evaluate the utility and convenience of dried blood spot testing for MPS.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01675674
|United States, New Jersey|
|University of Medicine and Dentistry of New Jersey|
|New Brunswick, New Jersey, United States, 08901|
|United States, New York|
|Hospital for Special Surgery|
|New York, New York, United States, 10021|
|Principal Investigator:||Thomas JA Lehman, MD||Chief, Division of Pediatric Rheumatology, Hospital for Special Surgery; Professor of Clinical Pediatrics, Cornell University|