Mucopolysaccharidosis III-ANCT05523206
A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA; Sanfilippo Syndrome)
An observational study of Mucopolysaccharidosis III-A, run by Sanguine Biosciences at 1 site in United States.
Trial summary
This protocol is a decentralized, single cohort, natural history and biomarker study enrolling up to 20 participants with MPS IIIA (Sanfilippo syndrome). At least 10 participants (~50%) must be less than four years old at the time of the Parent/LAR consent. Read more about this study
- Who is it for?
- Ages 4 months to 13 years
- Conditions the study is for
- Mucopolysaccharidosis III-A
- How many people
- 15 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Sep 2022to 28 Jan 2025
- 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 4 months to 13 years
- All sexes
- No healthy volunteers
- Child
Study population: Participant eligibility is based on age and on a confirmed diagnosis of Mucopolysaccharidosis Type IIIA (Sanfilippo syndrome).
Who may be able to join
- Age of enrollment is as follows:
- All participants must be between 4 months and < 14 years at time of consent
- At least 10 participants (ie, approx. 50% of expected total population) must be between 4 months old and < 4 years old at the time of consent
- The participant has a confirmed diagnosis of Mucopolysaccharidosis Type IIIA (MPS IIIA) (i.e., Sanfilippo syndrome) based on at least 2 out of the 3 following criteria:
- Documented reduced N-sulphoglucosamine sulphohydrolase (SGSH) activity in plasma, white blood cells, and/or skin fibroblasts consistent with MPS IIIA (10% or less of the lower limit of the normal range based on the testing laboratory)
- Documented likely pathogenic variant of the SGSH gene
- Documented elevated heparan sulfate levels in urine and/or blood Participants and their families are willing to complete 7 blood draws and 7 Vineland-3 collections
Who cannot join
- Known history of HIV, hepatitis, or other infectious diseases
- Taken an investigational product in the last 30 days
- Experienced excess blood loss, including blood donation, defined as 80 mL in the last month or 160 mL in the previous two months
- Undergone an MPS IIIA gene therapy at any time unless prior Sponsor or designee's approval has been received
- Documented loss of activity of sulfatases other than N-sulphoglucosamine sulphohydrolase (SGSH), indicating multiple sulfatase deficiency
- Known genetic or acquired disorder associated with developmental delay, seizures or other significant CNS dysfunction that would be expected to confound the clinical or biomarker assessments
Trial locations and contacts
1 site in 1 country.
United States1 site
Sanguine Biosciences, Inc.
Woburn, Massachusetts, 01801
About this study
Official title: A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA)
This protocol is a decentralized, single cohort, natural history and biomarker study enrolling up to 20 participants with MPS IIIA (Sanfilippo syndrome). At least 10 participants (~50%) must be less than four years old at the time of the Parent/LAR consent. The study will have a screening process and 7 study visits, e.g. home visits, that will consist of serum collection and completion of a remote assessment of the Vineland Adaptive Behavior Scales 3rd Edition (Vineland-3)
MPS IIIA remains a devastating disease with a high unmet medical need. There is currently a limited number of available data to adequately characterize the progression of the disease. Analysis of blood biospecimens and adaptive behavior in this study will help researchers better understand the clinical progression of MPS IIIA. A better understanding of disease progression may assist in developing novel therapies for rare genetic disorders.
- Conditions
- Mucopolysaccharidosis III-A
- Being tested
- No intervention
- Medical subject headings
- Mucopolysaccharidosis III
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
No intervention
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 | Participants with MPS IIIA Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change from baseline of adaptive behavior as measured by remote administration of the Vineland-3 Adaptive Behavior Scales (Vineland-3)
Measured: 96 weeks
Change from baseline in levels of blood-based biomarkers in serum
Measured: 96 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Aug 2022
- Study start27 Sep 2022
- Primary completion19 Dec 2024
- Study completion28 Jan 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucopolysaccharidosis III-AStudies 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
- 15 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sanguine Biosciences
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Denali Therapeutics Inc.
- Responsible party
- Sponsor
- Investigators
- Houman Hemmati, MD, Principal investigator, Sanguine Biosciences, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05523206
- Sponsor's protocol ID
- SAN-08252
- Status last verified
- Jan 2025
- First submitted
- 29 Aug 2022
- Last updated
- 30 Jan 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA)
- ClinicalTrials.gov ID
- NCT05523206
- Acronym / sponsor ID
- SAN-08252
- Conditions
- Mucopolysaccharidosis III-A
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 15 participants (actual)
- Lead sponsor
- Sanguine BiosciencesIndustry (pharma, biotech, devices)
- Collaborators
- Denali Therapeutics Inc.
- Study start
- 27 Sep 2022 (actual)
- Primary completion
- 19 Dec 2024 (actual)
- Study completion
- 28 Jan 2025 (actual)
- First posted
- 31 Aug 2022 (actual)
- 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 protocol is a decentralized, single cohort, natural history and biomarker study enrolling up to 20 participants with MPS IIIA (Sanfilippo syndrome). At least 10 participants (~50%) must be less than four years old at the time of the Parent/LAR consent. The study will have a screening process and 7 study visits, e.g. home visits, that will consist of serum collection and completion of a remote assessment of the Vineland Adaptive Behavior Scales 3rd Edition (Vineland-3)
MPS IIIA remains a devastating disease with a high unmet medical need. There is currently a limited number of available data to adequately characterize the progression of the disease. Analysis of blood biospecimens and adaptive behavior in this study will help researchers better understand the clinical progression of MPS IIIA. A better understanding of disease progression may assist in developing novel therapies for rare genetic disorders.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | – | Other: No interventionParticipants with MPS IIIA |
Who may qualify
- Ages
- 4 months to 13 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Participant eligibility is based on age and on a confirmed diagnosis of Mucopolysaccharidosis Type IIIA (Sanfilippo syndrome).
Key inclusion criteria (7 listed)
- Age of enrollment is as follows:
- The participant has a confirmed diagnosis of Mucopolysaccharidosis Type IIIA (MPS IIIA) (i.e., Sanfilippo syndrome) based on at least 2 out of the 3 following criteria:
Key exclusion criteria (6 listed)
- Known history of HIV, hepatitis, or other infectious diseases
- Taken an investigational product in the last 30 days
- Experienced excess blood loss, including blood donation, defined as 80 mL in the last month or 160 mL in the previous two months
- Undergone an MPS IIIA gene therapy at any time unless prior Sponsor or designee's approval has been received
- Documented loss of activity of sulfatases other than N-sulphoglucosamine sulphohydrolase (SGSH), indicating multiple sulfatase deficiency
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 |
|---|---|---|
| No interventionNo intervention | Other | Cohort 1 |
Primary outcome
Change from baseline of adaptive behavior as measured by remote administration of the Vineland-3 Adaptive Behavior Scales (Vineland-3)
Time frame: 96 weeks
Change from baseline in levels of blood-based biomarkers in serum
Time frame: 96 weeks
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 30 Jan 2025.
- Individual participant dataSharing planned: No
Related trials for Mucopolysaccharidosis III-A
RecruitingPhase 1/2
Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)
Mucopolysaccharidosis Type IIIA
Not yet recruitingObservational study
MPS IIIA Disease Monitoring Program
MPS IIIA, Sanfilippo Syndrome
Active, not recruitingPhase 1/2
An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis III-B
RecruitingPhase 2/3
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
MPS IIIA, Sanfilippo Syndrome
Not yet recruitingPhase 3
Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B)
MPS IIIB
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.
Houman Hemmati, MD principal investigator
Sanguine Biosciences, Inc.
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 III-A, run by Sanguine Biosciences 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 7 inclusion and 6 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 30 Jan 2025. 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?
Change from baseline of adaptive behavior as measured by remote administration of the Vineland-3 Adaptive Behavior Scales (Vineland-3) (time frame: 96 weeks). 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 30 Jan 2025; AzTrials last refreshed its copy on 8 Nov 2026.