MucopolysaccharidosesNCT01675674
Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
An observational study of Mucopolysaccharidoses and Mucopolysaccharidosis I, run by National MPS Society at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 months to 18 years
- Conditions the study is for
- Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II
- What is being tested?
- Dried blood spot test for MPS
- How many people
- 3,000 participants
- Where
- 2 sitesUnited States
- Study dates
- Sep 2011to Mar 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
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).
Who may be able to join
- 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
Show all 28Show fewer
- 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.
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
University of Medicine and Dentistry of New Jersey
New Brunswick, New Jersey, 08901
Hospital for Special Surgery
New York, New York, 10021
About this study
Official title: Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population
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.
Read the 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.
- Conditions
- Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
- Being tested
- Dried blood spot test for MPS
- Keywords
- Mucopolysaccharidoses, Prevalence, Pediatric, Rheumatology, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
- Medical subject headings
- Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Dried blood spot test for MPSOther
Also called DBS testing
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).
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Other: Dried blood spot test for MPS |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 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
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.
Measured: At study completion (approximately 18 months after the beginning of the study)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Aug 2012 (estimated)
- Study startSep 2011
- Primary completionMar 2014 (estimated)
- Study completionMar 2014 (estimated)
Why it stopped: Funding withdrawn due to insufficient enrollment rate
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (30)Papers the sponsor has linked to this study.
- Other trials for MucopolysaccharidosesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 3,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National MPS Society
- Sponsor type
- University, hospital or other
- Collaborators
- MediResource Inc.
- Responsible party
- Sponsor
- Investigators
- Thomas JA Lehman, MD, Principal investigator, Chief, Division of Pediatric Rheumatology, Hospital for Special Surgery; Professor of Clinical Pediatrics, Cornell University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01675674
- Sponsor's protocol ID
- RHE-001
- Status last verified
- May 2013
- First submitted
- 23 Aug 2012
- Last updated
- 24 May 2013
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Cimaz R, Coppa GV, Kone-Paut I, Link B, Pastores GM, Elorduy MR, Spencer C, Thorne C, Wulffraat N, Manger B. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J. 2009 Oct 23;7:18. doi: 10.1186/1546-0096-7-18.
PubMed 19852785Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschutter A, Kampmann C, Beck M. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005;28(6):1011-7. doi: 10.1007/s10545-005-0112-z.
PubMed 16435194Lin HY, Lin SP, Chuang CK, Niu DM, Chen MR, Tsai FJ, Chao MC, Chiu PC, Lin SJ, Tsai LP, Hwu WL, Lin JL. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A. 2009 May;149A(5):960-4. doi: 10.1002/ajmg.a.32781.
PubMed 19396827Malm G, Lund AM, Mansson JE, Heiberg A. Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr. 2008 Nov;97(11):1577-81. doi: 10.1111/j.1651-2227.2008.00965.x. Epub 2008 Aug 4.
PubMed 18681890Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis. 2008 Sep 16;3:24. doi: 10.1186/1750-1172-3-24.
PubMed 18796143Murphy AM, Lambert D, Treacy EP, O'Meara A, Lynch SA. Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic. Arch Dis Child. 2009 Jan;94(1):52-4. doi: 10.1136/adc.2007.135772. Epub 2008 May 7.
PubMed 18463126Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A. 2003 Dec 15;123A(3):310-3. doi: 10.1002/ajmg.a.20314.
PubMed 14608657Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999 Jul-Aug;105(1-2):151-6. doi: 10.1007/s004399900075.
PubMed 10480370Verity C, Winstone AM, Stellitano L, Will R, Nicoll A. The epidemiology of progressive intellectual and neurological deterioration in childhood. Arch Dis Child. 2010 May;95(5):361-4. doi: 10.1136/adc.2009.173419. Epub 2009 Nov 29.
PubMed 19948513Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007 Aug;120(2):405-18. doi: 10.1542/peds.2006-2184.
PubMed 17671068Muenzer J, Wraith JE, Clarke LA; International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009 Jan;123(1):19-29. doi: 10.1542/peds.2008-0416.
PubMed 19117856Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, Link B, Martin RA, Molter DW, Munoz Rojas MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, Schwartz IV, Wood RE, Wraith E. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009 Dec;124(6):e1228-39. doi: 10.1542/peds.2008-0999. Epub 2009 Nov 9.
PubMed 19901005Aldenhoven M, de Koning TJ, Verheijen FW, Prinsen BH, Wijburg FA, van der Ploeg AT, de Sain-van der Velden MG, Boelens J. Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients. Biol Blood Marrow Transplant. 2010 May;16(5):701-4. doi: 10.1016/j.bbmt.2010.01.006. Epub 2010 Jan 21.
PubMed 20096360Chamoles NA, Blanco MB, Gaggioli D, Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem. 2001 Dec;47(12):2098-102.
PubMed 11719472Chamoles NA, Blanco M, Gaggioli D. Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis. Clin Chem. 2001 Apr;47(4):780-1. No abstract available.
PubMed 11274042
Study at a glance
From the registry record, last updated by the sponsor on 24 May 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population
- ClinicalTrials.gov ID
- NCT01675674
- Acronym / sponsor ID
- RHE-001
- Conditions
- Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
- Keywords
- Mucopolysaccharidoses, Prevalence, Pediatric, Rheumatology, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Funding withdrawn due to insufficient enrollment rate
- Enrolment
- 3,000 participants (estimated)
- Lead sponsor
- National MPS SocietyUniversity, hospital or other
- Collaborators
- MediResource Inc.
- Study start
- Sep 2011
- Primary completion
- Mar 2014 (estimated)
- Study completion
- Mar 2014 (estimated)
- First posted
- 30 Aug 2012 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Dried blood spot test for MPS | – | Other: Dried blood spot test for MPSFor 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). |
Who may qualify
- Ages
- 6 months to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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).
Key inclusion criteria (28 listed)
- 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):
- 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.
Key exclusion criteria (7 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Dried blood spot test for MPSAlso: DBS testingThe 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 | Dried blood spot test for MPS |
Primary outcome
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).
1 secondary outcome
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)
Results and safety
The study was stopped early (reason given: Funding withdrawn due to insufficient enrollment rate). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 May 2013.
- Background: PubMed 19852785Cimaz R, Coppa GV, Kone-Paut I, Link B, Pastores GM, Elorduy MR, Spencer C, Thorne C, Wulffraat N, Manger B. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J. 2009 Oct 23;7:18. doi: 10.1186/1546-0096-7-18.
- Background: PubMed 16435194Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschutter A, Kampmann C, Beck M. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005;28(6):1011-7. doi: 10.1007/s10545-005-0112-z.
- Background: PubMed 19396827Lin HY, Lin SP, Chuang CK, Niu DM, Chen MR, Tsai FJ, Chao MC, Chiu PC, Lin SJ, Tsai LP, Hwu WL, Lin JL. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A. 2009 May;149A(5):960-4. doi: 10.1002/ajmg.a.32781.
- Background: PubMed 18681890Malm G, Lund AM, Mansson JE, Heiberg A. Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr. 2008 Nov;97(11):1577-81. doi: 10.1111/j.1651-2227.2008.00965.x. Epub 2008 Aug 4.
- Background: PubMed 18796143Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis. 2008 Sep 16;3:24. doi: 10.1186/1750-1172-3-24.
- Background: PubMed 18463126Murphy AM, Lambert D, Treacy EP, O'Meara A, Lynch SA. Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic. Arch Dis Child. 2009 Jan;94(1):52-4. doi: 10.1136/adc.2007.135772. Epub 2008 May 7.
- Background: PubMed 14608657Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A. 2003 Dec 15;123A(3):310-3. doi: 10.1002/ajmg.a.20314.
- Background: PubMed 10480370Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999 Jul-Aug;105(1-2):151-6. doi: 10.1007/s004399900075.
- Background: PubMed 19948513Verity C, Winstone AM, Stellitano L, Will R, Nicoll A. The epidemiology of progressive intellectual and neurological deterioration in childhood. Arch Dis Child. 2010 May;95(5):361-4. doi: 10.1136/adc.2009.173419. Epub 2009 Nov 29.
- Background: PubMed 17671068Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007 Aug;120(2):405-18. doi: 10.1542/peds.2006-2184.
- Background: PubMed 19117856Muenzer J, Wraith JE, Clarke LA; International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009 Jan;123(1):19-29. doi: 10.1542/peds.2008-0416.
- Background: PubMed 19901005Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, Link B, Martin RA, Molter DW, Munoz Rojas MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, Schwartz IV, Wood RE, Wraith E. Multidisciplinary management of Hunter syndrome. Pediatrics. 2009 Dec;124(6):e1228-39. doi: 10.1542/peds.2008-0999. Epub 2009 Nov 9.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Thomas JA Lehman, MD principal investigator
Chief, Division of Pediatric Rheumatology, Hospital for Special Surgery; Professor of Clinical Pediatrics, Cornell University
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mucopolysaccharidoses and Mucopolysaccharidosis I, run by National MPS Society at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 28 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 24 May 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Funding withdrawn due to insufficient enrollment rate). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01675674, which also lists 30 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 May 2013; AzTrials last refreshed its copy on 7 Nov 2026.