Back to resultsStudy to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
Primary Purpose
Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II
Status
Terminated
Phase
Locations
United States
Study Type
Observational
Intervention
Dried blood spot test for MPS
Sponsored by
About this trial
This is an observational trial for Mucopolysaccharidoses focused on measuring Mucopolysaccharidoses, Prevalence, Pediatric, Rheumatology, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
Eligibility Criteria
Inclusion Criteria:
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
- Age of at least 6 months.
- Age under 18 years at time of initial clinic presentation.
- 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:
- 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.
Sites / Locations
- University of Medicine and Dentistry of New Jersey
- Hospital for Special Surgery
Arms of the Study
Arm 1
Arm Type
Arm Label
Dried blood spot test for MPS
Arm Description
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).
Outcomes
Primary Outcome Measures
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).
Secondary Outcome Measures
Utility of DBS testing to screen for MPS in pediatric patients
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.
Full Information
NCT ID
NCT01675674
First Posted
August 23, 2012
Last Updated
May 23, 2013
Sponsor
National MPS Society
Collaborators
MediResource Inc.
1. Study Identification
Unique Protocol Identification Number
NCT01675674
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
Study Type
Observational
2. Study Status
Record Verification Date
May 2013
Overall Recruitment Status
Terminated
Why Stopped
Funding withdrawn due to insufficient enrollment rate
Study Start Date
September 2011 (undefined)
Primary Completion Date
March 2014 (Anticipated)
Study Completion Date
March 2014 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
National MPS Society
Collaborators
MediResource Inc.
4. Oversight
Data Monitoring Committee
Yes
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
Keywords
Mucopolysaccharidoses, Prevalence, Pediatric, Rheumatology, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
7. Study Design
Enrollment
3000 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Dried blood spot test for MPS
Arm Description
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 Type
Other
Intervention Name(s)
Dried blood spot test for MPS
Other Intervention Name(s)
DBS testing
Intervention Description
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).
Primary Outcome Measure Information:
Title
Incidence of previously unrecognized MPS I, II, IVA, and VI in children presenting to pediatric rheumatology, hand, or skeletal dysplasia clinics
Description
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).
Time Frame
At study completion (approximately 18 months after the beginning of the study)
Secondary Outcome Measure Information:
Title
Utility of DBS testing to screen for MPS in pediatric patients
Description
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.
Time Frame
At study completion (approximately 18 months after the beginning of the study)
10. Eligibility
Sex
All
Minimum Age & Unit of Time
6 Months
Maximum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
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
Age of at least 6 months.
Age under 18 years at time of initial clinic presentation.
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:
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.
Study Population Description
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).
Sampling Method
Non-Probability Sample
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Thomas JA Lehman, MD
Organizational Affiliation
Chief, Division of Pediatric Rheumatology, Hospital for Special Surgery; Professor of Clinical Pediatrics, Cornell University
Official's Role
Principal Investigator
Facility Information:
Facility Name
University of Medicine and Dentistry of New Jersey
City
New Brunswick
State/Province
New Jersey
ZIP/Postal Code
08901
Country
United States
Facility Name
Hospital for Special Surgery
City
New York
State/Province
New York
ZIP/Postal Code
10021
Country
United States
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Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
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