MPS IIIB (Sanfilippo B Syndrome)NCT02090179
Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging
An observational study of MPS IIIB (Sanfilippo B Syndrome), run by Alexion Pharmaceuticals, Inc. at 1 site in United Kingdom.
Trial summary
The purpose of the study is to characterize structural abnormalities in the brain and the integrity of the blood brain barrier in patients with mucopolysaccharidosis type IIIB (MPS IIIB). Read more about this study
- Who is it for?
- Ages 5 years and older
- Conditions the study is for
- MPS IIIB (Sanfilippo B Syndrome)
- How many people
- 5 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- Dec 2013to May 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 5 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Up to six subjects with MPS IIIB. An attempt will be made to enroll equal numbers (three) of MPS IIIB subjects with a classic (severe) disease presentation, and MPS IIIB subjects with an attenuated phenotype.
Who may be able to join
- Subject and/or subject's parent or legal guardian provides informed consent
- Subject is ≥5 years of age.
- Subject has a definitive diagnosis of MPS IIIB, as determined by either a documented deficiency in alpha-N-acetylglucosaminidase (NAGLU) enzyme activity or documented functionally-relevant mutations in both alleles of the NAGLU gene.
Who cannot join
- The subject has any internal or non-removable external metal items that may present a safety risk (for MRI), or any other medical condition or circumstance in which an MRI is contraindicated.
- The subject has a known or suspected hypersensitivity to anaesthesia, a bleeding disorder, or any other medical condition or circumstance in which a lumbar puncture (for collection of CSF) is contraindicated.
- Previous allergic reaction to gadolinium-based MRI contrast media.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluation of Blood Brain Barrier Integrity and Relationship to Structural Brain Abnormalities in MPS IIIB Patients Using Cerebrospinal Fluid/Serum Albumin Index (CSF-AI) and Multimodal Magnetic Resonance Imaging
The purpose of the study is to characterize structural abnormalities in the brain and the integrity of the blood brain barrier in patients with mucopolysaccharidosis type IIIB (MPS IIIB).
- Conditions
- MPS IIIB (Sanfilippo B Syndrome)
- Keywords
- MPS IIIB, Mucopolysaccharidosis, Mucopolysaccharidosis type IIIB, Sanfilippo Syndrome, Metabolism, Inborn Errors, Metabolic Diseases, Genetic Diseases, Inborn
- Medical subject headings
- Mucopolysaccharidosis III, Mucopolysaccharidoses, Metabolism, Inborn Errors, Metabolic Diseases, Genetic Diseases, Inborn
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 IIIB | Those with a definitive diagnosis of MPS IIIB (Sanfilippo B Syndrome). |
What is being measured
The primary outcome is the main question the study is designed to answer.
Blood Brain Barrier integrity in MPS IIIB subjects
Blood Brain Barrier integrity in MPS IIIB subjects by estimating the CSF-AI.
Measured: Day 0
Blood Brain Barrier transfer coefficient
The Blood Brain Barrier transfer coefficient will be measured by DCE-MRI in MPS IIIB subjects.
Measured: Day 0
Secondary outcomes (1)
Structural brain abnormalities in MPS IIIB
Structural brain abnormalities in MPS IIIB using imaging and biomarkers related to underlying disease biology of MPS IIIB subjects
Measured: Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Mar 2014 (estimated)
- Study startDec 2013
- Primary completionMay 2014
- Study completionMay 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MPS IIIB (Sanfilippo B Syndrome)Studies of the same condition, open and under way.
- More trials run by Alexion Pharmaceuticals, Inc.The 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
- Case only
- Time perspective
- Prospective
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- Alexion Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02090179
- Sponsor's protocol ID
- NGLU-CL01
- Other IDs
- 2013-001938-18
- Status last verified
- Jun 2016
- First submitted
- 12 Mar 2014
- Last updated
- 27 Jun 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Jun 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Blood Brain Barrier Integrity and Relationship to Structural Brain Abnormalities in MPS IIIB Patients Using Cerebrospinal Fluid/Serum Albumin Index (CSF-AI) and Multimodal Magnetic Resonance Imaging
- ClinicalTrials.gov ID
- NCT02090179
- Acronym / sponsor ID
- NGLU-CL01
- Conditions
- MPS IIIB (Sanfilippo B Syndrome)
- Keywords
- MPS IIIB, Mucopolysaccharidosis, Mucopolysaccharidosis type IIIB, Sanfilippo Syndrome, Metabolism, Inborn Errors, Metabolic Diseases, Genetic Diseases, Inborn
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5 participants (actual)
- Lead sponsor
- Alexion Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- Dec 2013
- Primary completion
- May 2014 (actual)
- Study completion
- May 2014 (actual)
- First posted
- 18 Mar 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 the study is to characterize structural abnormalities in the brain and the integrity of the blood brain barrier in patients with mucopolysaccharidosis type IIIB (MPS IIIB).
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| MPS IIIB | – | –Those with a definitive diagnosis of MPS IIIB (Sanfilippo B Syndrome). |
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Up to six subjects with MPS IIIB. An attempt will be made to enroll equal numbers (three) of MPS IIIB subjects with a classic (severe) disease presentation, and MPS IIIB subjects with an attenuated phenotype.
Key inclusion criteria (3 listed)
- Subject and/or subject's parent or legal guardian provides informed consent
- Subject is ≥5 years of age.
- Subject has a definitive diagnosis of MPS IIIB, as determined by either a documented deficiency in alpha-N-acetylglucosaminidase (NAGLU) enzyme activity or documented functionally-relevant mutations in both alleles of the NAGLU gene.
Key exclusion criteria (3 listed)
- The subject has any internal or non-removable external metal items that may present a safety risk (for MRI), or any other medical condition or circumstance in which an MRI is contraindicated.
- The subject has a known or suspected hypersensitivity to anaesthesia, a bleeding disorder, or any other medical condition or circumstance in which a lumbar puncture (for collection of CSF) is contraindicated.
- Previous allergic reaction to gadolinium-based MRI contrast media.
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
Blood Brain Barrier integrity in MPS IIIB subjects
Time frame: Day 0
Blood Brain Barrier integrity in MPS IIIB subjects by estimating the CSF-AI.
Blood Brain Barrier transfer coefficient
Time frame: Day 0
The Blood Brain Barrier transfer coefficient will be measured by DCE-MRI in MPS IIIB subjects.
1 secondary outcome
Structural brain abnormalities in MPS IIIB
Time frame: Day 0
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 27 Jun 2016.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 MPS IIIB (Sanfilippo B Syndrome), run by Alexion Pharmaceuticals, Inc. at 1 site in United Kingdom.
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 3 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 27 Jun 2016. 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 Kingdom. 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?
Blood Brain Barrier integrity in MPS IIIB subjects (time frame: Day 0). The study lists 2 primary outcomes in all. 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 27 Jun 2016.