Mucopolysaccharidosis Type IIIANCT02037880
Natural History Studies of Mucopolysaccharidosis III
An observational study of Mucopolysaccharidosis Type IIIA and Mucopolysaccharidosis Type IIIB, run by Nationwide Children's Hospital at 1 site in United States.
Trial summary
The purpose of this study is to assess rates of decline in motor and cognitive functional measures, and to assess potential biomarkers, in order to identify potential outcome measure appropriate for use in therapeutic clinical trials. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Mucopolysaccharidosis Type IIIA, Mucopolysaccharidosis Type IIIB
- What is being tested?
- Lumbar puncture and Magnetic Resonance Imaging (MRI) of the brain
- Type of treatment
- Medical device, Surgery or procedure
- How many people
- 25 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2014to Nov 2015
- 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 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals affected by MPS IIIA or MPS IIIB will be considered for this study.
Who may be able to join
- Age 2 years old or greater
- Confirmed diagnosis of MPSIIIA or MPSIIIB by either of two methods:
- No detectable or significantly reduced NAGLU (MPSIIIB) or SGSH (MPSIIIA) activity in serum or leukocyte assay
- Genomic DNA mutation analysis demonstrating a homozygous or compound heterozygous mutations in the NAGLU (MPSIIIB) or SGSH (MPSIIIA) genes
- Clinical history of or examination features of neurologic dysfunction.
Who cannot join
- Inability to participate in the clinical evaluations
- Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics
- Inability to be safely sedated in the opinion of the clinical anesthesiologist
Trial locations and contacts
1 site in 1 country.
United States1 site
Nationwide Children's Hospital
Columbus, Ohio, 43205
About this study
The purpose of this study is to assess rates of decline in motor and cognitive functional measures, and to assess potential biomarkers, in order to identify potential outcome measure appropriate for use in therapeutic clinical trials.
Read the detailed description
Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) is a group of four devastating genetic diseases that result in the abnormal accumulation of glycosaminoglycans in body tissues. In MPSIII the predominant symptoms occur due to accumulation within the central nervous system (CNS), including the brain and spinal cord, resulting in cognitive decline, motor dysfunction, and eventual death.
In anticipation for future therapeutic studies for MPSIIIA and MPSIIIB, we are performing a natural history study to identify the following:
- Individual rates of decline in motor and cognitive function in a cohort of potential clinical trial patients
- The natural history of outcome measures in order to assess their appropriateness as outcomes in an eventual trial
- Baseline functional data in patients who will be potential candidates for an eventual trial
- Biomarkers of disease progression over a 12-month interval, including changes in brain MRI and in cerebrospinal fluid
Patients in this study will need to come to Nationwide Children's Hospital in Columbus, Ohio, three times. At each of these three time points, cognitive outcome measures will be assessed: at baseline (visit 1), 6 months (visit 2), and at 12 months (visit 3). At baseline (visit 1) and 12 months (visit 3), an MRI and a lumbar puncture will be performed.
- Being tested
- Lumbar puncture, Magnetic Resonance Imaging (MRI) of the brain
- Keywords
- Mucopolysaccharidosis, MPS, Sanfilippo
- Medical subject headings
- Mucopolysaccharidosis III, Mucopolysaccharidoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Lumbar punctureProcedure or surgery
Magnetic Resonance Imaging (MRI) of the brainDevice
| Study group | Role | What they receive |
|---|---|---|
| MPS IIIA/B Subjects | Cohort will be followed for one year to assess natural history of the disease. Receives: Procedure: Lumbar puncture; Device: Magnetic Resonance Imaging (MRI) of the brain |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cognitive function
Assessed using the Leiter International Performance assessment, a non-verbal assessment of cognitive function.
Measured: up to 12 months
Secondary outcomes (3)
Adaptive functioning
Parental assessment of adaptive functioning using the Adaptive Behavioral Assessment System
Measured: Months 0, 6, and 12
Emotional/behavioral function
Assessment of emotional/behavioral problems using the Child Behavioral Checklist
Measured: Months 0, 6, and 12
White and grey matter brain volumes
Assessment of brain volumes by MRI. MRI will be performed under sedation.
Measured: Months 0 and 12
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jan 2014 (estimated)
- Study startFeb 2014
- Primary completionNov 2015
- Study completionNov 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucopolysaccharidosis Type IIIAStudies of the same condition, open and under way.
- More trials run by Nationwide Children's HospitalThe sponsor's other registered studies.
- 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
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nationwide Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Sanfilippo Children's Research Foundation, The Sanfilippo Research Foundation, The Children's Medical Research Foundation
- Responsible party
- Principal investigator, Kevin Flanigan, Nationwide Children's Hospital
- Investigators
- Kevin M Flanigan, MD, Principal investigator, Nationwide Children's Hospital, Columbus, Ohio
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02037880
- Sponsor's protocol ID
- MPSIII-1
- Status last verified
- Nov 2015
- First submitted
- 26 Nov 2013
- Last updated
- 16 Nov 2015
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 16 Nov 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Studies of Mucopolysaccharidosis III
- ClinicalTrials.gov ID
- NCT02037880
- Acronym / sponsor ID
- MPSIII-1
- Keywords
- Mucopolysaccharidosis, MPS, Sanfilippo
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 25 participants (actual)
- Lead sponsor
- Nationwide Children's HospitalUniversity, hospital or other
- Collaborators
- Sanfilippo Children's Research Foundation, The Sanfilippo Research Foundation, The Children's Medical Research Foundation
- Study start
- Feb 2014
- Primary completion
- Nov 2015 (actual)
- Study completion
- Nov 2015 (actual)
- First posted
- 16 Jan 2014 (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.
The purpose of this study is to assess rates of decline in motor and cognitive functional measures, and to assess potential biomarkers, in order to identify potential outcome measure appropriate for use in therapeutic clinical trials.
Detailed description
Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) is a group of four devastating genetic diseases that result in the abnormal accumulation of glycosaminoglycans in body tissues. In MPSIII the predominant symptoms occur due to accumulation within the central nervous system (CNS), including the brain and spinal cord, resulting in cognitive decline, motor dysfunction, and eventual death.
In anticipation for future therapeutic studies for MPSIIIA and MPSIIIB, we are performing a natural history study to identify the following:
- Individual rates of decline in motor and cognitive function in a cohort of potential clinical trial patients
- The natural history of outcome measures in order to assess their appropriateness as outcomes in an eventual trial
- Baseline functional data in patients who will be potential candidates for an eventual trial
- Biomarkers of disease progression over a 12-month interval, including changes in brain MRI and in cerebrospinal fluid
Patients in this study will need to come to Nationwide Children's Hospital in Columbus, Ohio, three times. At each of these three time points, cognitive outcome measures will be assessed: at baseline (visit 1), 6 months (visit 2), and at 12 months (visit 3). At baseline (visit 1) and 12 months (visit 3), an MRI and a lumbar puncture will be performed.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| MPS IIIA/B Subjects | – | Procedure: Lumbar puncture, Device: Magnetic Resonance Imaging (MRI) of the brainCohort will be followed for one year to assess natural history of the disease. |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals affected by MPS IIIA or MPS IIIB will be considered for this study.
Key inclusion criteria (5 listed)
- Age 2 years old or greater
- Confirmed diagnosis of MPSIIIA or MPSIIIB by either of two methods:
- Clinical history of or examination features of neurologic dysfunction.
Key exclusion criteria (3 listed)
- Inability to participate in the clinical evaluations
- Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics
- Inability to be safely sedated in the opinion of the clinical anesthesiologist
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 |
|---|---|---|
| Lumbar puncture | Procedure or surgery | MPS IIIA/B Subjects |
| Magnetic Resonance Imaging (MRI) of the brain | Device | MPS IIIA/B Subjects |
Primary outcome
Cognitive function
Time frame: up to 12 months
Assessed using the Leiter International Performance assessment, a non-verbal assessment of cognitive function.
3 secondary outcomes
Adaptive functioning
Time frame: Months 0, 6, and 12
Emotional/behavioral function
Time frame: Months 0, 6, and 12
White and grey matter brain volumes
Time frame: Months 0 and 12
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 16 Nov 2015.
Related trials for Mucopolysaccharidosis Type IIIA
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Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
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Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB
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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.
Kevin M Flanigan, MD principal investigator
Nationwide Children's Hospital, Columbus, Ohio
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mucopolysaccharidosis Type IIIA and Mucopolysaccharidosis Type IIIB, run by Nationwide Children's Hospital at 1 site 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 5 inclusion and 3 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 16 Nov 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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 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?
Cognitive function (time frame: up to 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 16 Nov 2015.