Clinical trial NCT01707433: Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
Official title: Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Mucopolysaccharidosis IV A
Mucopolysaccharidosis VI
Keywords: spondyloepiphyseal dysplasia
multiple epiphyseal dysplasia
bilateral Legg Calve Perthes
bilateral proximal femoral epiphyseal dysplasia
GALNS
Lead sponsor: Children's Hospitals and Clinics of Minnesota
Sponsor class: OTHER
Collaborators: name: BioMarin Pharmaceutical
name: Greenwood Genetic Center
name: Gillette Children's Specialty Healthcare
First posted: 2012-10-16
Enrollment: 22
Sex: ALL
Maximum age (years): 21
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
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.

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.


Eligibility 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)

Primary outcomes:
measure: Subjects identified with MPS IVA or VI
timeFrame: 2 years
Secondary outcomes:
Other outcomes:
Locations:
city: Minneapolis
country: United States
facility: Children's Hospitals and Clinics of Minnesota
state: Minnesota
city: St Paul
country: United States
facility: Gillette Children's Specialty Healthcare
state: Minnesota
Study officials:
affiliation: Children's Hospitals and Clinics of Minnesota
name: Nancy Mendelsohn, MD
role: PRINCIPAL_INVESTIGATOR
References: