Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by Children's Hospitals and Clinics of Minnesota
Sponsor:
Collaborators:
BioMarin Pharmaceutical
Greenwood Genetic Center
Gillette Children's Specialty Healthcare
Information provided by (Responsible Party):
Nancy Mendelsohn, Children's Hospitals and Clinics of Minnesota
ClinicalTrials.gov Identifier:
NCT01707433
First received: October 12, 2012
Last updated: August 2, 2013
Last verified: August 2013
  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

Resource links provided by NLM:


Further study details as provided by Children's Hospitals and Clinics of Minnesota:

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
Study Population

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.

Criteria

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01707433

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         
Sponsors and Collaborators
Children's Hospitals and Clinics of Minnesota
BioMarin Pharmaceutical
Greenwood Genetic Center
Gillette Children's Specialty Healthcare
Investigators
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: August 2, 2013
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
Mucopolysaccharidosis VI
Osteochondrodysplasias
Bone Diseases
Bone Diseases, Developmental
Carbohydrate Metabolism, Inborn Errors
Connective Tissue Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Mucinoses
Musculoskeletal Diseases

ClinicalTrials.gov processed this record on October 20, 2014