Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
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Purpose
BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the primary method for detecting mucopolysaccharidoses in children. This method may not be sufficiently sensitive and may miss some patients with arylsulfatase B (ARSB) deficiency. Investigators propose to identify patients retrospectively and prospectively who carry a diagnosis of spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, bilateral proximal femoral epiphyseal dysplasia, or bilateral Legg-Calve-Perthes. For these patients, investigators will perform enzyme testing on a blood sample which will identify MPS VI or IVA.
Patients who have an earlier diagnosis of MPS are likely to have better health outcomes with medical management. Therefore, it is important to determine effective diagnostic methods. Investigators believe that bilateral hip involvement should alert the clinician to the possibility of MPS VI and further examination. The purpose of this study is to test the hypothesis that the correct diagnoses of two MPS storage disorders are delayed in patients with bilateral proximal femoral epiphyseal dysplasia and normal quantitative urine MPS studies.
| Condition | Intervention |
|---|---|
|
Mucopolysaccharidosis IV A Mucopolysaccharidosis VI |
Other: Enzyme testing |
| Study Type: | Observational |
| Study Design: | Observational Model: Cohort |
| Official Title: | Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease |
| Estimated Enrollment: | 50 |
| Study Start Date: | October 2012 |
| Estimated Study Completion Date: | October 2014 |
| Estimated Primary Completion Date: | April 2014 (Final data collection date for primary outcome measure) |
| Groups/Cohorts | Assigned Interventions |
|---|---|
|
Diagnosis of hip disease
Diagnosed with spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease, or bilateral proximal femoral epiphyseal dysplasia
|
Other: Enzyme testing
Leukocyte activity measurement of Arylsulfatase B and N acetyl galactosamine 6 sulfatase (GALNS)
|
Eligibility| Ages Eligible for Study: | up to 21 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Males/females less than or equal to 21 years of age who have been seen at Gillette Children's Specialty Healthcare or Children's Hospitals and Clinics of Minnesota and carry a diagnosis of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease or bilateral proximal femoral epiphyseal dysplasia.
Inclusion Criteria:
- Less than or equal to 21 years of age
- Diagnosis of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease or bilateral proximal femoral epiphyseal dysplasia.
Exclusion Criteria:
- Definitive etiology for above-mentioned diagnosis (i.e. other MPS disease, known chondrodysplasia, Meyer's dysplasia)
Contacts and Locations| United States, Minnesota | |
| Children's Hospitals and Clinics of Minnesota | Recruiting |
| Minneapolis, Minnesota, United States, 55404 | |
| Contact: Lisa Read, MPH 612-813-6658 lisa.read@childrensmn.org | |
| Contact: Molly Barrett, BS 612-813-6347 molly.barrett@childrensmn.org | |
| Principal Investigator: Nancy Mendelsohn, MD | |
| Gillette Children's Specialty Healthcare | Recruiting |
| St Paul, Minnesota, United States, 55101 | |
| Contact: Lindsey Fallenstein, BS 651-325-2316 lindseyrfallenstein@gillettechildrens.com | |
| Contact: Meghan Munger, MPH 651-229-1767 meghanemunger@gillettechildrens.com | |
| Sub-Investigator: Sarah Gutknecht, DNP,RN, CPNP | |
| Principal Investigator: | Nancy Mendelsohn, MD | Children's Hospitals and Clinics of Minnesota |
More Information
No publications provided
| Responsible Party: | Nancy Mendelsohn, Medical Director of Genetic Dept, Children's Hospitals and Clinics of Minnesota |
| ClinicalTrials.gov Identifier: | NCT01707433 History of Changes |
| Other Study ID Numbers: | MPSHIP |
| Study First Received: | October 12, 2012 |
| Last Updated: | October 16, 2012 |
| Health Authority: | United States: Institutional Review Board |
Keywords provided by Children's Hospitals and Clinics of Minnesota:
|
spondyloepiphyseal dysplasia multiple epiphyseal dysplasia bilateral Legg Calve Perthes bilateral proximal femoral epiphyseal dysplasia GALNS |
Additional relevant MeSH terms:
|
Mucopolysaccharidoses Mucopolysaccharidosis IV Osteochondrodysplasias Mucopolysaccharidosis VI Carbohydrate Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn |
Lysosomal Storage Diseases Mucinoses Connective Tissue Diseases Metabolic Diseases Bone Diseases, Developmental Bone Diseases Musculoskeletal Diseases |
ClinicalTrials.gov processed this record on May 19, 2013