Ultrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis

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 Overview

• Status: Completed
• Conditions: MPS I; MPS IV

• Study Type: Observational
• Enrollment (Actual): 18

Contacts and Locations

Study Locations

• Canada
  • Ontario
    • Ottawa, Ontario, Canada, K1H8L1
      • Children's Hospital of Eastern Ontario

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years to 99 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with MPS I and IV

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	one time exam

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Ultrasound scanning technique	To determine the optimal ultrasound scanning technique for MPS patients given the potentially advanced joint contractures	one time scan
Findings of synovitis or tenosynovitis	To determine whether there are ultrasound findings indicative of synovitis or tenosynovitis	one time scan
Differences between MPS I and IV	To determine whether differences exist between MPS I and MPS IV	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	one time scan
Differences between severe and attenuated phenotypes	To determine whether differences exist between severe and attenuated phenotypes	one time scan

Collaborators and Investigators

• Sponsor: Children's Hospital of Eastern Ontario
• Investigators: Principal Investigator: Johannes Roth, MD, Children's Hospital of Eastern Ontario

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2013
• Primary Completion (Actual): March 1, 2016
• Study Completion (Actual): December 1, 2016

Study Registration Dates

• First Submitted: August 13, 2013
• First Submitted That Met QC Criteria: February 19, 2014
• First Posted (Estimate): February 20, 2014

Study Record Updates

• Last Update Posted (Actual): January 24, 2018
• Last Update Submitted That Met QC Criteria: January 23, 2018
• Last Verified: January 1, 2018

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Mucopolysaccharidoses
• Other Study ID Numbers: MPSUS