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

NCT01675674 | Terminated DMC

• 1 other identifier: RHE-001
• Study Type: observational
• Target: 3,000
• Locations: 1 country
• Sites: 2

Brief Summary

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.

Conditions

Mucopolysaccharidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis IV; Mucopolysaccharidosis VI

Keywords

Mucopolysaccharidoses; Prevalence; Pediatric; Rheumatology; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis IV; Mucopolysaccharidosis VI

Outcome Measures

Primary Outcomes (1)

• Incidence of previously unrecognized MPS I, II, IVA, and VI in children presenting to pediatric rheumatology, hand, or skeletal dysplasia clinics

  Each patient is screened for MPS I, II, IVA, and VI after enrolling in the study. The results for all patients will be pooled when the study is completed (expected completion approx. 18 months after the study begins).

  At study completion (approximately 18 months after the beginning of the study)

Secondary Outcomes (1)

• Utility of DBS testing to screen for MPS in pediatric patients

  At study completion (approximately 18 months after the beginning of the study)

Study Arms (1)

Dried blood spot test for MPS

For the prospective study, subjects will be drawn from all children (aged 6 months to 18 years) with a history of presenting to selected clinics (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 inclusion criteria). For the retrospective chart review, subjects will be drawn from all children who were 6 months to 18 years of age at the time of first presentation to selected clinics (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 inclusion criteria).

Other: Dried blood spot test for MPS

Interventions

Dried blood spot test for MPS OTHER

The dried blood spot test uses a few drops of blood on filter paper to screen for mucopolysaccharidoses (MPS I, MPS II, MPS IVA and MPS VI in this study).

Also known as: DBS testing

Dried blood spot test for MPS

Eligibility Criteria

• Age: 6 Months - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

For the prospective study, subjects will be drawn from all children (aged 6 months to 18 years) with a history of presenting to selected clinics (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 inclusion criteria). For the retrospective chart review, subjects will be drawn from all children who were 6 months to 18 years of age at the time of first presentation to selected clinics (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 inclusion criteria).

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

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.

Sponsors & Collaborators

• National MPS Society: lead
• MediResource Inc.: collaborator

Study Sites (2)

University of Medicine and Dentistry of New Jersey

New Brunswick, New Jersey, 08901, United States

Location

Hospital for Special Surgery

New York, New York, 10021, United States

Location

Related Publications (30)

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• Tomatsu S, Nishioka T, Montano AM, Gutierrez MA, Pena OS, Orii KO, Sly WS, Yamaguchi S, Orii T, Paschke E, Kircher SG, Noguchi A. Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. J Med Genet. 2004 Jul;41(7):e98. doi: 10.1136/jmg.2003.018010. No abstract available.

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MeSH Terms

Conditions

Mucopolysaccharidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis IV; Mucopolysaccharidosis VI

Condition Hierarchy (Ancestors)

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; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System

Study Officials

• Thomas JA Lehman, MD

  Chief, Division of Pediatric Rheumatology, Hospital for Special Surgery; Professor of Clinical Pediatrics, Cornell University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 23, 2012
• First Posted: August 30, 2012
• Study Start: September 1, 2011
• Primary Completion: March 1, 2014
• Study Completion: March 1, 2014
• Last Updated: May 24, 2013

Record last verified: 2013-05

Locations

US (2)