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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01675674
Recruitment Status : Terminated (Funding withdrawn due to insufficient enrollment rate)
First Posted : August 30, 2012
Last Update Posted : May 24, 2013
Sponsor:
Collaborator:
MediResource Inc.
Information provided by (Responsible Party):
National MPS Society

Tracking Information
First Submitted Date August 23, 2012
First Posted Date August 30, 2012
Last Update Posted Date May 24, 2013
Study Start Date September 2011
Estimated Primary Completion Date March 2014   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 5, 2013)
Incidence of previously unrecognized MPS I, II, IVA, and VI in children presenting to pediatric rheumatology, hand, or skeletal dysplasia clinics [ Time Frame: At study completion (approximately 18 months after the beginning of the study) ]
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).
Original Primary Outcome Measures
 (submitted: August 27, 2012)
Incidence of previously unrecognized MPS I, II, IVA, and VI in children presenting to pediatric rheumatology, hand, or skeletal dysplasia clinics [ Time Frame: At study completion (approximately 18 months after the beginning of the study) ]
Change History
Current Secondary Outcome Measures
 (submitted: August 27, 2012)
Utility of DBS testing to screen for MPS in pediatric patients [ Time Frame: At study completion (approximately 18 months after the beginning of the study) ]
For the secondary endpoint (utility of DBS testing), the following data will be collected: ease of taking and sending the DBS sample; number of errors of sample taking; adverse events (if any) associated with blood sampling by finger prick or venipuncture (for subjects over one year of age; choose whichever method is most convenient) or heel prick (for subjects under one year of age); and comfort of patients and/or their parents with the test. Study personnel who performed DBS testing will also be asked to complete a brief survey about the utility of DBS testing.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
Official Title Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population
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.
Detailed Description

MPS, or mucopolysaccharidosis (mew-co-paw-lee-sack-a-rid-o-sis), disorders are a group of rare inherited diseases that affect about 1 in every 25,000 people in the United States. There are 7 MPS disorders: MPS I (Hurler, Hurler-Scheie, and Scheie syndromes), II (Hunter syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), VI (Maroteaux-Lamy syndrome), VII (Sly syndrome), and IX (no other name). In people who have MPS, the body cannot break down certain materials in the body's cells. These materials then build up in the cells, causing problems such as stiff joints, misshapen bones, curled hands and reduced hand function, frequent ear infections, vision and hearing problems, "thickened" facial features, and heart problems. Getting access to diagnosis and treatment can help make MPS easier to manage; but unfortunately, people with MPS may go undiagnosed for many years.

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 use dried blood spot (DBS) testing to screen for these types of MPS. It will also use a survey to evaluate the utility and convenience of dried blood spot testing for MPS.

Study Type Observational
Study Design Not Provided
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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).

Condition
  • Mucopolysaccharidoses
  • Mucopolysaccharidosis I
  • Mucopolysaccharidosis II
  • Mucopolysaccharidosis IV
  • Mucopolysaccharidosis VI
Intervention Other: Dried blood spot test for MPS
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).
Other Name: DBS testing
Study Groups/Cohorts 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).

Intervention: Other: Dried blood spot test for MPS
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Terminated
Estimated Enrollment
 (submitted: August 27, 2012)
3000
Original Estimated Enrollment Same as current
Estimated Study Completion Date March 2014
Estimated Primary Completion Date March 2014   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  1. 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
  2. Age of at least 6 months.
  3. Age under 18 years at time of initial clinic presentation.
  4. Written, signed, and dated informed consent obtained from the subject (if 18 years of age) or the subject's parents (if under 18). Written, dated, and signed assent from children is also required at some centers.

Exclusion Criteria:

  1. Under 6 months of age.
  2. Over 18 years of age at initial clinic presentation.
  3. Patients who have had confirmation of an MPS disorder by biochemical analysis and/or by molecular biology.
  4. 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.)
  5. Written informed consent not available.
  6. Subject unwilling or unable to provide the necessary blood spot for analysis.
  7. 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.
Sex/Gender
Sexes Eligible for Study: All
Ages 6 Months to 18 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01675674
Other Study ID Numbers RHE-001
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party National MPS Society
Study Sponsor National MPS Society
Collaborators MediResource Inc.
Investigators
Principal Investigator: Thomas JA Lehman, MD Chief, Division of Pediatric Rheumatology, Hospital for Special Surgery; Professor of Clinical Pediatrics, Cornell University
PRS Account National MPS Society
Verification Date May 2013