Sanfilippo Syndrome Type BNCT01509768
Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)
An observational study of Sanfilippo Syndrome Type B, run by Shire at 4 sites in 3 countries.
Trial summary
The purpose of this study is to evaluate the natural course of disease progression in Mucopolysaccharidosis Type III (MPS IIIB) patients who are untreated to identify potential surrogate endpoints that may be utilized in future treatment trials of MPS IIIB using predefined assessments including standardized clinical… Read more about this study
- Who is it for?
- Ages 1 year to 10 years
- Conditions the study is for
- Sanfilippo Syndrome Type B
- How many people
- 19 participants
- Where
- 4 sitesin 3 countries
- Study dates
- 9 Apr 2012to 10 Oct 2013
- 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 1 year to 10 years
- All sexes
- No healthy volunteers
- Child
Study population: Patients with a documented diagnosis of MPS IIIB and who are currently untreated with investigational products (drugs/device) for this disease. Patient must also be ≥ 1 year and < 10 years of age with an age equivalent on the Vineland Adaptive Behavior Scales (VABS) of ≥ 1 year.
Who may be able to join
- Each patient must meet all of the following criteria to be enrolled in this study.
- Definitive diagnosis of MPS IIIB, as determined by one of the following:
- Documented deficiency in alpha-N-acetylglucosaminidase (NAGLU) enzyme activity of ≤10% of the lower limit of the normal range as measured in fibroblasts, leukocytes, plasma, or serum (based on normal range for diagnosis of MPS IIIB). Patients who do not already have a documented deficiency of NAGLU activity will provide a blood sample during screening for determination of NAGLU activity level in their serum. OR
- Two documented mutations in the NAGLU gene. Patients who do not already have a documented genotype of NAGLU will provide a blood sample during screening for NAGLU genotyping.
- The patient is ≥1 and < 10 years of age and has an age equivalent on the Vineland Adaptive Behavior Scales (VABS) of ≥1 year
- The patient is medically stable, in the opinion of the Investigator, to accommodate the protocol requirements, including travel and assessments, without placing an undue burden on the patient/patient's family.
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- The patient, patient's parent(s) or legal guardian(s) has voluntarily signed and dated an Institutional Review Board/Independent Ethics Committee-approved informed consent (assent if applicable) form after all relevant aspects of the study have been explained and discussed with the patient, the patient's parent(s), or legal guardian(s).Exclusion Criteria:
- Patients will be excluded from the study if they meet any of the following criteria at screening:
- Presence of significant non-MPS IIIB related central nervous system (CNS) impairment or behavioral disturbances, sufficient, in the opinion of the Investigator, to preclude performance of study neurocognitive and developmental testing procedures, or that would confound the scientific integrity or interpretation of study assessments.
- Visual or hearing impairment sufficient to preclude cooperation with neurodevelopmental testing.
- Patient has a known or suspected hypersensitivity to anesthesia or is thought to be at an unacceptable risk from anesthesia, due to airway compromise or other conditions, in the opinion of the Investigator.
- Personal history or family history of neuroleptic malignant syndrome, malignant hyperthermia, or other anesthesia-related concerns.
- History of poorly controlled seizure disorder.
- Currently receiving psychotropic or other medications, which in the Investigator's opinion would be likely to substantially confound test results.
- History of bleeding disorder, inability to abstain from medications that affect blood clotting(e.g., aspirin, Non-steroidal anti-inflammatory drug (NSAIDs)), or history of their ingestion within 1 week prior to a lumbar puncture.
- History of complications from previous lumbar punctures that, in the opinion of the Investigator, place the patient at increased risk from this procedure.
- The patient is participating, plans to participate, or participated in a clinical trial of another investigational medicinal product, or has received a vaccination, within the 30 days prior to the study or for less than 5 half lives (whichever is longer) of the investigational product.
- History of hematopoietic stem cell or bone marrow transplant.
- Unable to assent, or the patient's parent(s) or patient's legal guardian(s) is/are unable to understand the nature, scope, and possible consequences of the study, or do/does not agree to comply with the protocol defined schedule of assessments.
- Patient is unable to comply with the protocol (e.g., has a clinically relevant medical condition making implementation of the protocol difficult, unstable social situation, or otherwise unlikely to complete the study) or is, in the opinion of the Investigator, otherwise unsuited for the study.
- The patient has any item (braces, tattoos, etc) which would exclude the patient from being able to undergo MRI according to local Institutional Policy, or the patient has any other situation that would exclude the patient from undergoing any other procedure required in this study.
- The patient is pregnant.
Who cannot join
None listed.
Trial locations and contacts
4 sites in 3 countries.
4 sites in 3 countries
United States2 sites
University of Minnesota
Minneapolis, Minnesota, 55454
Children's Hospital and Research Center
Oakland, California, 94609-1809
United Kingdom1 site
Great Ormond Street Hospital for Children
London, WC1N 3JH
About this study
Official title: An Observational Prospective Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)
The purpose of this study is to evaluate the natural course of disease progression in Mucopolysaccharidosis Type III (MPS IIIB) patients who are untreated to identify potential surrogate endpoints that may be utilized in future treatment trials of MPS IIIB using predefined assessments including standardized clinical, biochemical, neurocognitive, developmental, and imaging measures.
Read the detailed description
This is a multicenter longitudinal, prospective, natural history study of patients with MPSIIIB designed to identify potential surrogate endpoints that may be utilized in future Enzyme replacement therapy (ERT) trials of MPS IIIB via defined assessments including standardized clinical, biochemical, neurocognitive, development, and imaging measures.
- Conditions
- Sanfilippo Syndrome Type B
- Keywords
- MPS IIIB
- Medical subject headings
- Mucopolysaccharidosis III
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 |
|---|---|---|
| No treatment | This is a longitudinal, prospective, observational, natural history study of patients with MPS IIIB to identify endpoints that may be used for future ERT trials via standardized clinical, biochemical, neurocognitive, developmental, behavioral and imaging measures |
What is being measured
The primary outcome is the main question the study is designed to answer.
evaluate the course of disease progression in patients with MPS IIIB who are untreated with any investigational products to inform possible future treatment studies
Measured: 13 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jan 2012 (estimated)
- Study start9 Apr 2012
- Primary completion10 Oct 2013
- Study completion10 Oct 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Sanfilippo Syndrome Type BStudies 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
- 19 participants (actual)
Sponsor and investigators
- Lead sponsor
- Shire
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Study Director, Study director, Takeda
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01509768
- Sponsor's protocol ID
- HGT-SNB-088
- Status last verified
- Mar 2021
- First submitted
- 10 Jan 2012
- Last updated
- 17 Mar 2021
- Results posted
- No
- Data monitoring committee
- No
Publications
Whitley 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 29661560
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Observational Prospective Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)
- ClinicalTrials.gov ID
- NCT01509768
- Acronym / sponsor ID
- HGT-SNB-088
- Conditions
- Sanfilippo Syndrome Type B
- Keywords
- MPS IIIB
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 19 participants (actual)
- Lead sponsor
- ShireIndustry (pharma, biotech, devices)
- Study start
- 9 Apr 2012 (actual)
- Primary completion
- 10 Oct 2013 (actual)
- Study completion
- 10 Oct 2013 (actual)
- First posted
- 13 Jan 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.
The purpose of this study is to evaluate the natural course of disease progression in Mucopolysaccharidosis Type III (MPS IIIB) patients who are untreated to identify potential surrogate endpoints that may be utilized in future treatment trials of MPS IIIB using predefined assessments including standardized clinical, biochemical, neurocognitive, developmental, and imaging measures.
Detailed description
This is a multicenter longitudinal, prospective, natural history study of patients with MPSIIIB designed to identify potential surrogate endpoints that may be utilized in future Enzyme replacement therapy (ERT) trials of MPS IIIB via defined assessments including standardized clinical, biochemical, neurocognitive, development, and imaging measures.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| No treatment | – | –This is a longitudinal, prospective, observational, natural history study of patients with MPS IIIB to identify endpoints that may be used for future ERT trials via standardized clinical, biochemical, neurocognitive, developmental, behavioral and imaging measures |
Who may qualify
- Ages
- 1 year to 10 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Patients with a documented diagnosis of MPS IIIB and who are currently untreated with investigational products (drugs/device) for this disease. Patient must also be ≥ 1 year and < 10 years of age with an age equivalent on the Vineland Adaptive Behavior Scales (VABS) of ≥ 1 year.
Key inclusion criteria (22 listed)
- Each patient must meet all of the following criteria to be enrolled in this study.
- Definitive diagnosis of MPS IIIB, as determined by one of the following:
- The patient is ≥1 and < 10 years of age and has an age equivalent on the Vineland Adaptive Behavior Scales (VABS) of ≥1 year
- The patient is medically stable, in the opinion of the Investigator, to accommodate the protocol requirements, including travel and assessments, without placing an undue burden on the patient/patient's family.
- The patient, patient's parent(s) or legal guardian(s) has voluntarily signed and dated an Institutional Review Board/Independent Ethics Committee-approved informed consent (assent if applicable) form after all relevant aspects of the study have been explained and discussed with the patient, the patient's parent(s), or legal guardian(s).Exclusion Criteria:
Key exclusion criteria (0 listed)
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
evaluate the course of disease progression in patients with MPS IIIB who are untreated with any investigational products to inform possible future treatment studies
Time frame: 13 months
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 17 Mar 2021.
- Derived from this study: PubMed 29661560Whitley 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.
- To obtain more information on the study, click here/on this link.Link provided by the sponsor.
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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.
Study Director study director
Takeda
4 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sanfilippo Syndrome Type B, run by Shire at 4 sites in 3 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 22 inclusion and 0 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 17 Mar 2021. 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, Germany, 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?
evaluate the course of disease progression in patients with MPS IIIB who are untreated with any investigational products to inform possible future treatment studies (time frame: 13 months). 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 NCT01509768, which also lists 1 linked publication.
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 17 Mar 2021.