Mucopolysaccharidosis Type INCT01870375
Longitudinal Studies of Brain Structure and Function in MPS Disorders
An observational study of Mucopolysaccharidosis Type I and Mucopolysaccharidosis Type II, run by University of Minnesota at 4 sites in 2 countries.
Trial summary
Neurobehavioral function and quality of life are compromised in many patients with mucopolysaccharidosis (MPS) disorders. The long-term goals of this research are to: 1) more accurately inform patients/parents regarding potential neurobehavioral outcomes; 2) develop sensitive measures of disease progression and… Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI
- How many people
- 100 participants
- Where
- 4 sitesin 2 countries
- Study dates
- Sep 2009to 31 Aug 2019
- 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 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study population is comprised of patients who have a verified diagnosis of MPS I, II, IV, VI or VII, aged 6 years of age or older.
Who may be able to join
- Any MPS I, II, IV, VI or VII child or adult aged 6 years of age or older
Who cannot join
- Participants with:
- Pacemakers
- Any indwelling electronic device including programmable shunts
- Orthodontic braces unless they are not made of metal
- Other implanted metal in the body other than titanium
- Unable to stay still during MRI because of low cognitive function, behavioral dysregulation, or young age, if the patient is not a clinical patient having sedation/anesthesia
Show all 10Show fewer
- Pregnancy
- Exclusion Criteria for Neuropsychological and Neurobehavioral Testing
- Participants who:
- Are too functionally impaired for testing
Trial locations and contacts
4 sites in 2 countries.
4 sites in 2 countries
United States3 sites
University of Minnesota
Minneapolis, Minnesota, 55455
New York University
New York, New York, 10016
Oakland Children's Hospital
Oakland, California, 94609
About this study
Neurobehavioral function and quality of life are compromised in many patients with mucopolysaccharidosis (MPS) disorders. The long-term goals of this research are to: 1) more accurately inform patients/parents regarding potential neurobehavioral outcomes; 2) develop sensitive measures of disease progression and central nervous system (CNS) treatment outcome; and 3) help clinical researchers develop direct treatments for specific brain structures/functions. The investigators hypothesize that specific and localized neuroimaging and neuropsychological findings and their relationship will be distinct for each MPS disorder. It is further hypothesized that without treatment, functions will decline and structure will change over time in a predictable fashion, and will be related to locus of abnormality and stage of disease.
Read the detailed description
The mucopolysaccharidoses (MPS diseases) are lysosomal disorders (inborn errors of metabolism) that progressively affect most organ systems in the body, usually beginning in childhood. Recent treatment advances have produced amelioration of some of these malfunctions, but notably brain and bone have been difficult to effectively treat. This research addresses the brain abnormalities in the MPS disorders, about which little is known.
The objectives of this research are:
- to identify abnormalities of central nervous system (CNS) structure and function as well as to measure quality-of-life (QOL) in both treated and untreated MPS patients over time. The investigators will accomplish this through longitudinal studies of enrolled patients in designated centers in North America.
- to develop quantitative measurements of change, including direct measurement of neuropsychological function; surrogate MRI markers; and biomarkers to measure stage of disease and treatment outcomes.
- to examine the degree to which independent variables have an impact on both functional and structural outcome. Independent variables may include, but are not limited to: age at first treatment, severity of disease, types of medical abnormalities, nature of genetic mutation, medical events, and sensory abnormalities.
- to examine how treatments such as Enzyme Replacement Therapy (ERT), Hematopoietic Cell Transplant (HCT), substrate reduction, and other palliative and rehabilitative therapies differentially affect CNS structure and function, as well as the subject's quality of life.
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV, Mucopolysaccharidosis Type VII
- Keywords
- Mucopolysaccharidosis, Longitudinal, Brain, Cognition, Quality-of-Life, Hurler syndrome, Hunter syndrome, Hurler-Scheie syndrome, Scheie syndrome, Maroteaux-Lamy syndrome, MPS I, MPS II, MPS VI, Mucopolysaccharidosis type I, Mucopolysaccharidosis type II, Mucopolysaccharidosis type VI, MPS IV, MPS VII, Mucopolysaccharidosis type IV, Mucopolysaccharidosis type VII
- Medical subject headings
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI, Mucopolysaccharidosis IV, Mucopolysaccharidosis VII, Mucopolysaccharidoses, Sudden Infant Death
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| MPS IH, MPS IHS, MPS IS | MPS IH (Hurler syndrome) patients; MPS IHS (Hurler-Scheie syndrome) patients; and MPS IS (Scheie syndrome) patients | |
| MPS II | Hunter syndrome patients | |
| MPS IV | Morquio syndrome patients who will be considered for enrollment in the study on an individual basis | |
| MPS VI | Maroteaux-Lamy syndrome patients | |
| MPS VII | Sly syndrome patients who will be considered for enrollment in the study on an individual basis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Cognitive Ability (IQ)
Age-appropriate IQ tests will be administered at baseline and during subject's annual visit.
Measured: Baseline, Year 1, Year 2, Year 3
Secondary outcomes (5)
Change in Quality of Life
Age-appropriate Quality of Life measures will be administered at baseline and during subject's annual visit.
Measured: Baseline, Year 1, Year 2, Year 3
Change in Neuropsychological Status
Memory, Attention, Visual Spatial, and Visual Motor functions will be assessed with age-appropriate measures administered at baseline and during subject's annual visit.
Measured: Baseline, Year 1, Year 2, Year 3
Change in Emotional and Behavioral Health
Age-appropriate measures of emotional and behavioral health will be administered at baseline and during subject's annual visit.
Measured: Baseline, Year 1, Year 2, Year 3
Change Shown in Magnetic Resonance Imaging of the Brain
Magnetic resonance imaging of each subject's brain will be performed at baseline and during subject's annual visit to acquire volumetric, diffusion tensor imaging (DTI), and resting state data. These data will be analyzed to identify any changes occurring over time.
Measured: Baseline, Year 1, Year 2, Year 3
Change in Adaptive Functions
Vineland Adaptive Behavior Scales, a measure of communication, daily living skills, socialization and motor function, will be administered at baseline and during subject's annual visit.
Measured: Baseline, Year 1, Year 2, Year 3
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jun 2013 (estimated)
- Study startSep 2009
- Primary completion31 Aug 2019
- Study completion31 Aug 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (26)Papers the sponsor has linked to this study.
- Other trials for Mucopolysaccharidosis Type IStudies 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
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Minnesota
- Sponsor type
- University, hospital or other
- Collaborators
- Rare Diseases Clinical Research Network, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Lysosomal Disease Network
- Responsible party
- Sponsor
- Investigators
- Chester B. Whitley, M.D., Ph.D., Principal investigator, University of MinnesotaAshley Schneider, Study director, University of MinnesotaPaul Harmatz, M.D., Study chair, Oakland Children's HospitalMichal Inbar-Feigenberg, M.D., Study chair, Hospital for Sick Children, Toronto, Ontario, CAHeather Lau, M.D., Study chair, New York University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01870375
- Sponsor's protocol ID
- 0905M65804
- Other IDs
- U54NS065768, 0905M65804
- Status last verified
- Sep 2019
- First submitted
- 2 Aug 2011
- Last updated
- 6 Sep 2019
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The study's data will be input to the Data Management and Coordinating Center ("DMCC"), which is a part of the NIH-funded Rare Diseases Clinical Research Network. Eventually the data will be available to researchers on the database of Genotypes and Phenotypes ("dbGaP"), a part of National Center for Biotechnology Information, U.S. National Library of Medicine.
Publications
Aldenhoven M, Wynn RF, Orchard PJ, O'Meara A, Veys P, Fischer A, Valayannopoulos V, Neven B, Rovelli A, Prasad VK, Tolar J, Allewelt H, Jones SA, Parini R, Renard M, Bordon V, Wulffraat NM, de Koning TJ, Shapiro EG, Kurtzberg J, Boelens JJ. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood. 2015 Mar 26;125(13):2164-72. doi: 10.1182/blood-2014-11-608075. Epub 2015 Jan 26.
PubMed 25624320Braunlin E, Orchard PJ, Whitley CB, Schroeder L, Reed RC, Manivel JC. Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review. Cardiovasc Pathol. 2014 May-Jun;23(3):145-51. doi: 10.1016/j.carpath.2014.01.001. Epub 2014 Jan 10.
PubMed 24508139Stevenson DA, Rudser K, Kunin-Batson A, Fung EB, Viskochil D, Shapiro E, Orchard PJ, Whitley CB, Polgreen LE. Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI. J Pediatr Rehabil Med. 2014;7(2):159-65. doi: 10.3233/PRM-140285.
PubMed 25096868Polgreen LE, Thomas W, Orchard PJ, Whitley CB, Miller BS. Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome. Mol Genet Metab. 2014 Feb;111(2):101-6. doi: 10.1016/j.ymgme.2013.11.013. Epub 2013 Dec 11.
PubMed 24368158Taylor NE, Dengel DR, Lund TC, Rudser KD, Orchard PJ, Steinberger J, Whitley CB, Polgreen LE. Isokinetic muscle strength differences in patients with mucopolysaccharidosis I, II, and VI. J Pediatr Rehabil Med. 2014;7(4):353-60. doi: 10.3233/PRM-140305.
PubMed 25547887Wolf DA, Banerjee S, Hackett PB, Whitley CB, McIvor RS, Low WC. Gene therapy for neurologic manifestations of mucopolysaccharidoses. Expert Opin Drug Deliv. 2015 Feb;12(2):283-96. doi: 10.1517/17425247.2015.966682. Epub 2014 Dec 16.
PubMed 25510418Ou L, Herzog TL, Wilmot CM, Whitley CB. Standardization of alpha-L-iduronidase enzyme assay with Michaelis-Menten kinetics. Mol Genet Metab. 2014 Feb;111(2):113-5. doi: 10.1016/j.ymgme.2013.11.009. Epub 2013 Nov 26.
PubMed 24332804Kunin-Batson AS, Shapiro EG, Rudser KD, Lavery CA, Bjoraker KJ, Jones SA, Wynn RF, Vellodi A, Tolar J, Orchard PJ, Wraith JE. Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation. JIMD Rep. 2016;29:95-102. doi: 10.1007/8904_2015_521. Epub 2016 Jan 30.
PubMed 26825088Polgreen LE, Kunin-Batson A, Rudser K, Vehe RK, Utz JJ, Whitley CB, Dickson P. Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. Mol Genet Metab Rep. 2017 Jan 15;10:75-80. doi: 10.1016/j.ymgmr.2017.01.002. eCollection 2017 Mar.
PubMed 28119823Eisengart JB, Rudser KD, Xue Y, Orchard P, Miller W, Lund T, Van der Ploeg A, Mercer J, Jones S, Mengel KE, Gokce S, Guffon N, Giugliani R, de Souza CFM, Shapiro EG, Whitley CB. Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. Genet Med. 2018 Nov;20(11):1423-1429. doi: 10.1038/gim.2018.29. Epub 2018 Mar 8.
PubMed 29517765Janzen D, Delaney KA, Shapiro EG. Cognitive and adaptive measurement endpoints for clinical trials in mucopolysaccharidoses types I, II, and III: A review of the literature. Mol Genet Metab. 2017 Jun;121(2):57-69. doi: 10.1016/j.ymgme.2017.05.005. Epub 2017 May 8.
PubMed 28506702van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E. Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure. Mol Genet Metab. 2017 Jun;121(2):70-79. doi: 10.1016/j.ymgme.2017.05.004. Epub 2017 May 6.
PubMed 28501294Nestrasil I, Vedolin L. Quantitative neuroimaging in mucopolysaccharidoses clinical trials. Mol Genet Metab. 2017 Dec;122S:17-24. doi: 10.1016/j.ymgme.2017.09.006. Epub 2017 Sep 15.
PubMed 29111092Whitley CB, Cleary M, Eugen Mengel K, Harmatz P, Shapiro E, Nestrasil I, Haslett P, Whiteman D, Alexanderian D. Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B. J Pediatr. 2018 Jun;197:198-206.e2. doi: 10.1016/j.jpeds.2018.01.044. Epub 2018 Apr 13.
PubMed 29661560Shapiro E, Guler OE, Rudser K, Delaney K, Bjoraker K, Whitley C, Tolar J, Orchard P, Provenzale J, Thomas KM. An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT). Mol Genet Metab. 2012 Sep;107(1-2):116-21. doi: 10.1016/j.ymgme.2012.07.016. Epub 2012 Jul 20.
PubMed 22867884
Study at a glance
From the registry record, last updated by the sponsor on 6 Sep 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Studies of Brain Structure and Function in MPS Disorders
- ClinicalTrials.gov ID
- NCT01870375
- Acronym / sponsor ID
- 0905M65804
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV, Mucopolysaccharidosis Type VII
- Keywords
- Mucopolysaccharidosis, Longitudinal, Brain, Cognition, Quality-of-Life, Hurler syndrome, Hunter syndrome, Hurler-Scheie syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants (actual)
- Lead sponsor
- University of MinnesotaUniversity, hospital or other
- Collaborators
- Rare Diseases Clinical Research Network, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Lysosomal Disease Network
- Study start
- Sep 2009 (actual)
- Primary completion
- 31 Aug 2019 (actual)
- Study completion
- 31 Aug 2019 (actual)
- First posted
- 6 Jun 2013 (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.
Neurobehavioral function and quality of life are compromised in many patients with mucopolysaccharidosis (MPS) disorders. The long-term goals of this research are to: 1) more accurately inform patients/parents regarding potential neurobehavioral outcomes; 2) develop sensitive measures of disease progression and central nervous system (CNS) treatment outcome; and 3) help clinical researchers develop direct treatments for specific brain structures/functions. The investigators hypothesize that specific and localized neuroimaging and neuropsychological findings and their relationship will be distinct for each MPS disorder. It is further hypothesized that without treatment, functions will decline and structure will change over time in a predictable fashion, and will be related to locus of abnormality and stage of disease.
Detailed description
The mucopolysaccharidoses (MPS diseases) are lysosomal disorders (inborn errors of metabolism) that progressively affect most organ systems in the body, usually beginning in childhood. Recent treatment advances have produced amelioration of some of these malfunctions, but notably brain and bone have been difficult to effectively treat. This research addresses the brain abnormalities in the MPS disorders, about which little is known.
The objectives of this research are:
- to identify abnormalities of central nervous system (CNS) structure and function as well as to measure quality-of-life (QOL) in both treated and untreated MPS patients over time. The investigators will accomplish this through longitudinal studies of enrolled patients in designated centers in North America.
- to develop quantitative measurements of change, including direct measurement of neuropsychological function; surrogate MRI markers; and biomarkers to measure stage of disease and treatment outcomes.
- to examine the degree to which independent variables have an impact on both functional and structural outcome. Independent variables may include, but are not limited to: age at first treatment, severity of disease, types of medical abnormalities, nature of genetic mutation, medical events, and sensory abnormalities.
- to examine how treatments such as Enzyme Replacement Therapy (ERT), Hematopoietic Cell Transplant (HCT), substrate reduction, and other palliative and rehabilitative therapies differentially affect CNS structure and function, as well as the subject's quality of life.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 5
| Arm | Type | Receives |
|---|---|---|
| MPS IH, MPS IHS, MPS IS | – | –MPS IH (Hurler syndrome) patients; MPS IHS (Hurler-Scheie syndrome) patients; and MPS IS (Scheie syndrome) patients |
| MPS II | – | –Hunter syndrome patients |
| MPS IV | – | –Morquio syndrome patients who will be considered for enrollment in the study on an individual basis |
| MPS VI | – | –Maroteaux-Lamy syndrome patients |
| MPS VII | – | –Sly syndrome patients who will be considered for enrollment in the study on an individual basis |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study population is comprised of patients who have a verified diagnosis of MPS I, II, IV, VI or VII, aged 6 years of age or older.
Key inclusion criteria (1 listed)
- Any MPS I, II, IV, VI or VII child or adult aged 6 years of age or older
Key exclusion criteria (10 listed)
- Exclusion Criteria for Neuropsychological and Neurobehavioral Testing
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change in Cognitive Ability (IQ)
Time frame: Baseline, Year 1, Year 2, Year 3
Age-appropriate IQ tests will be administered at baseline and during subject's annual visit.
5 secondary outcomes
Change in Quality of Life
Time frame: Baseline, Year 1, Year 2, Year 3
Change in Neuropsychological Status
Time frame: Baseline, Year 1, Year 2, Year 3
Change in Emotional and Behavioral Health
Time frame: Baseline, Year 1, Year 2, Year 3
Change Shown in Magnetic Resonance Imaging of the Brain
Time frame: Baseline, Year 1, Year 2, Year 3
Change in Adaptive Functions
Time frame: Baseline, Year 1, Year 2, Year 3
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Sep 2019.
- Background: PubMed 25624320Aldenhoven M, Wynn RF, Orchard PJ, O'Meara A, Veys P, Fischer A, Valayannopoulos V, Neven B, Rovelli A, Prasad VK, Tolar J, Allewelt H, Jones SA, Parini R, Renard M, Bordon V, Wulffraat NM, de Koning TJ, Shapiro EG, Kurtzberg J, Boelens JJ. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood. 2015 Mar 26;125(13):2164-72. doi: 10.1182/blood-2014-11-608075. Epub 2015 Jan 26.
- Background: PubMed 24508139Braunlin E, Orchard PJ, Whitley CB, Schroeder L, Reed RC, Manivel JC. Unexpected coronary artery findings in mucopolysaccharidosis. Report of four cases and literature review. Cardiovasc Pathol. 2014 May-Jun;23(3):145-51. doi: 10.1016/j.carpath.2014.01.001. Epub 2014 Jan 10.
- Background: PubMed 25096868Stevenson DA, Rudser K, Kunin-Batson A, Fung EB, Viskochil D, Shapiro E, Orchard PJ, Whitley CB, Polgreen LE. Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI. J Pediatr Rehabil Med. 2014;7(2):159-65. doi: 10.3233/PRM-140285.
- Background: PubMed 24368158Polgreen LE, Thomas W, Orchard PJ, Whitley CB, Miller BS. Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome. Mol Genet Metab. 2014 Feb;111(2):101-6. doi: 10.1016/j.ymgme.2013.11.013. Epub 2013 Dec 11.
- Background: PubMed 25547887Taylor NE, Dengel DR, Lund TC, Rudser KD, Orchard PJ, Steinberger J, Whitley CB, Polgreen LE. Isokinetic muscle strength differences in patients with mucopolysaccharidosis I, II, and VI. J Pediatr Rehabil Med. 2014;7(4):353-60. doi: 10.3233/PRM-140305.
- Background: PubMed 25510418Wolf DA, Banerjee S, Hackett PB, Whitley CB, McIvor RS, Low WC. Gene therapy for neurologic manifestations of mucopolysaccharidoses. Expert Opin Drug Deliv. 2015 Feb;12(2):283-96. doi: 10.1517/17425247.2015.966682. Epub 2014 Dec 16.
- Background: PubMed 24332804Ou L, Herzog TL, Wilmot CM, Whitley CB. Standardization of alpha-L-iduronidase enzyme assay with Michaelis-Menten kinetics. Mol Genet Metab. 2014 Feb;111(2):113-5. doi: 10.1016/j.ymgme.2013.11.009. Epub 2013 Nov 26.
- Background: PubMed 26825088Kunin-Batson AS, Shapiro EG, Rudser KD, Lavery CA, Bjoraker KJ, Jones SA, Wynn RF, Vellodi A, Tolar J, Orchard PJ, Wraith JE. Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation. JIMD Rep. 2016;29:95-102. doi: 10.1007/8904_2015_521. Epub 2016 Jan 30.
- Background: PubMed 28119823Polgreen LE, Kunin-Batson A, Rudser K, Vehe RK, Utz JJ, Whitley CB, Dickson P. Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. Mol Genet Metab Rep. 2017 Jan 15;10:75-80. doi: 10.1016/j.ymgmr.2017.01.002. eCollection 2017 Mar.
- Background: PubMed 29517765Eisengart JB, Rudser KD, Xue Y, Orchard P, Miller W, Lund T, Van der Ploeg A, Mercer J, Jones S, Mengel KE, Gokce S, Guffon N, Giugliani R, de Souza CFM, Shapiro EG, Whitley CB. Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. Genet Med. 2018 Nov;20(11):1423-1429. doi: 10.1038/gim.2018.29. Epub 2018 Mar 8.
- Background: PubMed 28506702Janzen D, Delaney KA, Shapiro EG. Cognitive and adaptive measurement endpoints for clinical trials in mucopolysaccharidoses types I, II, and III: A review of the literature. Mol Genet Metab. 2017 Jun;121(2):57-69. doi: 10.1016/j.ymgme.2017.05.005. Epub 2017 May 8.
- Background: PubMed 28501294van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E. Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure. Mol Genet Metab. 2017 Jun;121(2):70-79. doi: 10.1016/j.ymgme.2017.05.004. Epub 2017 May 6.
- The National MPS Society (in the United States)Link provided by the sponsor.
- The Canadian MPS Society's own siteLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. The study's data will be input to the Data Management and Coordinating Center ("DMCC"), which is a part of the NIH-funded Rare Diseases Clinical Research Network. Eventually the data will be available to researchers on the database of Genotypes and Phenotypes ("dbGaP"), a part of National Center for Biotechnology Information, U.S. National Library of Medicine.
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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.
Chester B. Whitley, M.D., Ph.D. principal investigator
University of Minnesota
Ashley Schneider study director
University of Minnesota
Paul Harmatz, M.D. study chair
Oakland Children's Hospital
4 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mucopolysaccharidosis Type I and Mucopolysaccharidosis Type II, run by University of Minnesota at 4 sites in 2 countries.
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 1 inclusion and 10 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: finished, as of the sponsor's last update on 6 Sep 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, Canada. 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Change in Cognitive Ability (IQ) (time frame: Baseline, Year 1, Year 2, Year 3). 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 NCT01870375, which also lists 26 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 6 Sep 2019.