Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics

Stopped early

Conditions studied: Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI

In brief

This study is being done to learn how many children and young adults who come to pediatric rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types of MPS: I, II, IVA, and VI. This can help researchers decide whether to create a screening program for MPS at pediatric rheumatology clinics. This study is being done in rheumatology clinics because the first symptoms of MPS are often joint problems such as stiff joints, and rheumatologists may be the first doctors that a patient with MPS visits. The study will also evaluate the utility of dried blood spot testing for MPS.

Key facts

Study ID

NCT01675674

Run by

National MPS Society

People needed

3000

Starts

2011-09-01

Expected to finish

2014-03-01

Last updated by the study team

2013-05-24

Who can join

Age: 1 and older, up to 18. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• History of presenting to the pediatric rheumatology, pediatric hand, or skeletal dysplasia clinic with at least ONE "highly suspicious" symptom or at least TWO "less suspicious" symptoms that may be indicative of an MPS disorder (see below):
• Highly suspicious symptoms:
• characteristic facial features
• hearing loss
• corneal clouding
• cardiac manifestations
• dysostosis multiplex
• hepatosplenomegaly
• spinal cord compression
• hydrocephalus
• carpal tunnel syndrome
• delayed mental development or regression in mental development
• Less suspicious symptoms:
• short stature
• extensive Mongolian spots
• sleep apnea
• copious nasal discharge
• recurrent otitis media, ear fluid that will not drain, or the presence of ear tubes
• frequent upper respiratory tract infections
• joint stiffness or limited range of motion
• hand problems (Claw hands or reduced hand function)
• hernia (inguinal or umbilical)
• abnormally shaped teeth
• dental cysts
• tooth abscess

You may not qualify if…

• Under 6 months of age.
• Over 18 years of age at initial clinic presentation.
• Patients who have had confirmation of an MPS disorder by biochemical analysis and/or by molecular biology.
• Patients for whom MPS enzyme activity tests (i.e., enzyme levels tested in fibroblasts, leukocytes, serum, or blood spots) have already been performed, and for which the result was normal. (Patients who have been screened for MPS through urinary GAG and tested normal will not be excluded from the study.)
• Written informed consent not available.
• Subject unwilling or unable to provide the necessary blood spot for analysis.
• Any other condition that would, in the opinion of the investigator, interfere with the participant's ability to provide informed consent, comply with study instructions, or possibly confound interpretation of study results.

Where it is running

• University of Medicine and Dentistry of New Jersey — New Brunswick, New Jersey, United States
• Hospital for Special Surgery — New York, New York, United States

Full record on ClinicalTrials.gov

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