Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease

NCT01707433 | Completed

• 1 other identifier: MPSHIP
• Study Type: observational
• Target: 22
• Locations: 1 country
• Sites: 2

Brief Summary

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.

Conditions

Mucopolysaccharidosis IV A; Mucopolysaccharidosis VI

Keywords

spondyloepiphyseal dysplasia; multiple epiphyseal dysplasia; bilateral Legg Calve Perthes; bilateral proximal femoral epiphyseal dysplasia; GALNS

Outcome Measures

Primary Outcomes (1)

• Subjects identified with MPS IVA or VI

  2 years

Study Arms (1)

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

Interventions

Enzyme testing OTHER

Leukocyte activity measurement of Arylsulfatase B and N acetyl galactosamine 6 sulfatase (GALNS)

Diagnosis of hip disease

Eligibility Criteria

• Age: Up to 21 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• Definitive etiology for above-mentioned diagnosis (i.e. other MPS disease, known chondrodysplasia, Meyer's dysplasia)

Sponsors & Collaborators

• Children's Hospitals and Clinics of Minnesota: lead
• BioMarin Pharmaceutical: collaborator
• Greenwood Genetic Center: collaborator
• Gillette Children's Specialty Healthcare: collaborator

Study Sites (2)

Children's Hospitals and Clinics of Minnesota

Minneapolis, Minnesota, 55404, United States

Location

Gillette Children's Specialty Healthcare

Saint Paul, Minnesota, 55101, United States

Location

MeSH Terms

Conditions

Mucopolysaccharidosis IV; Mucopolysaccharidosis VI; Osteochondrodysplasias

Interventions

Clinical Enzyme Tests

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases

Intervention Hierarchy (Ancestors)

Clinical Chemistry Tests; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Enzyme Assays; Chemistry Techniques, Analytical; Investigative Techniques

Study Officials

• Nancy Mendelsohn, MD

  Children's Hospitals and Clinics of Minnesota

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Medical Director of Genetic Dept

Study Record Dates

• First Submitted: October 12, 2012
• First Posted: October 16, 2012
• Study Start: October 1, 2012
• Primary Completion: June 1, 2015
• Study Completion: June 1, 2015
• Last Updated: August 4, 2015

Record last verified: 2015-07

Locations

US (2)