Ultrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis

N/ACompletedNCT02067650

Children's Hospital of Eastern Ontario18 enrolled

Overview

Hardly any imaging studies specifically addressing the articular and periarticular structures in MPS patients are available at this point. The investigators propose to do for the first time a pilot study using musculoskeletal ultrasound in patients with various types of MPS.

Study Type

OBSERVATIONAL

Enrollment

Conditions

MPS I MPS IV

Eligibility

Sex: ALLMin age: 2 YearsMax age: 99 Years

Medical Language ↔ Plain English

Inclusion Criteria * Diagnosis of Mucopolysaccharidosis * Ability to collaborate with the ultrasound assessment * Written informed consent from parents and patients over 14 years of age, assent from children 7 to 14 years Exclusion Criteria * Inability to collaborate with the ultrasound assessment * Acute trauma to a joint that will be assessed in the 3 months preceding the study * Coexistence of other pathology that is known to affect the respective joints

Locations (1)

Children's Hospital of Eastern Ontario

Ottawa, Ontario, Canada

Outcomes

Primary Outcomes

Power Doppler

The primary objective is to determine whether patients with various types of MPS and at various stages of the disease exhibit abnormalities of the finger, wrist and knee joints as assessed by grey scale and Power Doppler ultrasonography.

Time frame: one time exam

Secondary Outcomes

Ultrasound scanning technique

To determine the optimal ultrasound scanning technique for MPS patients given the potentially advanced joint contractures

Time frame: one time scan

Findings of synovitis or tenosynovitis

To determine whether there are ultrasound findings indicative of synovitis or tenosynovitis

Time frame: one time scan

Differences between MPS I and IV

To determine whether differences exist between MPS I and MPS IV

Time frame: one time scan

Differences between ERT and BMT

To determine whether differences exist between patients with or without Enzyme Replacement Therapy (ERT) or Bone Marrow Transplants

Time frame: one time scan

Differences between severe and attenuated phenotypes

To determine whether differences exist between severe and attenuated phenotypes

Time frame: one time scan

Data from ClinicalTrials.gov

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