Sanfilippo Syndrome Type DMPSIIIDNCT05648851
A Natural History Study of Sanfilippo Syndrome Type D
An observational study of Sanfilippo Syndrome Type D, run by Phoenix Nest at 1 site in United States.
Trial summary
Sanfilippo syndrome type D is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with Sanfilippo syndrome type D. Read more about this study
- Who is it for?
- Ages 12 months and older
- Conditions the study is for
- Sanfilippo Syndrome Type D
- How many people
- 10 participants
- Where
- 1 siteUnited States
- Study dates
- 22 Jan 2023to 1 Nov 2024
- 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 12 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with a documented diagnosis of Sanfilippo syndrome type D and who are currently untreated with investigational products (drugs/device) for this disease
Who may be able to join
- To be eligible to participate in the study, patients must meet all of the following criteria:
- Confirmed diagnosis of Sanfilippo syndrome type D disease by all of the following:
- Deficiency in alpha-GNS enzyme activity
- Has presented with signs/symptoms consistent with Sanfilippo syndrome type D, or, for individuals who have not presented with signs/symptoms of disease (eg, siblings of known patients), the determination of eligibility will be at the discretion of the Sponsor in conjunction with the site Investigator
- Genomic DNA analysis demonstrating homozygous or compound heterozygous, pathogenic and/or potentially pathogenic variants in the GNS gene
- Accumulated GAG HS in urine
Show all 10Show fewer
- Written informed consent from parent or legal guardian and assent from patient, if required
- Parent/legal guardian willing to accompany the patient to all study visits
- Ability to comply with protocol requirements, in the opinion of the Investigator
- Negative urine pregnancy test at screening (nonsterile females of childbearing potential only) -
Who cannot join
- Patients who meet any of the following criteria will not be eligible to participate in the study:
- Have received an investigational drug within 30 days prior to the Baseline Visit
- Concomitant illness or medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the patient's ability to comply with protocol requirements, the patient's well-being or safety, or the interpretability of the patient's clinical data
- The presence of significant non-MPS IIID-related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study -
Trial locations and contacts
1 site in 1 country.
United States1 site
Columbia University Irving Medical Center
New York, New York, 10032
About this study
Official title: A Combination Retrospective and Prospective Natural History Study of Patients With Sanfilippo Syndrome Type D (MPSIIID)
Sanfilippo syndrome type D is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with Sanfilippo syndrome type D. The results from this study may inform future clinical studies in targeted therapies for patients with Sanfilippo syndrome type D and may serve as an external control since there are very few patients with Sanfilippo syndrome type D.
Read the detailed description
This is a single-center, natural history study of subjects with Sanfilippo syndrome type D. This study will combine a retrospective review of medical records and an ongoing collection of clinical data on an observational basis from participants with Sanfilippo syndrome type D.
Participants will be asked to attend clinic visits in person on a yearly basis. In clinic visits will include neurocognitive, developmental, behavioral, biochemical, imaging measures as well as retrospective medical record analysis. At 6-month intervals between clinic visits, participants will be contacted remotely for some safety assessments (e.g., collecting information about concomitant medications, concurrent illnesses, and procedure-related adverse events [AEs] and serious AEs [SAEs] since last clinic visit). At 6-month intervals, caregivers will complete questionnaires and record home video assessments using a dedicated, compliant study application (app) called RARE (Recording Application for Real-World Evidence). The RARE app consists of 9 tasks of Activities of Daily Living and socialization as well as two parent reported questionnaires.
No formal power or sample size calculations will be performed. At least 4 and up to 10 patients living with Sanfilippo syndrome type D will be enrolled in the prospective and retrospective study (group/cohort 1). An additional 5 patients deceased or living will be enrolled for retrospective medical record collection only (group/cohort 2).
The objectives of this study are:
- To enhance the understanding of the natural history and progression of Sanfilippo syndrome type D.
- To define and categorize clinical endpoints that may be used in future clinical trials.
- Conditions
- Sanfilippo Syndrome Type D
- Keywords
- Sanfilippo syndrome type D, mucopolysaccharidosis, MPSIIID
- 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.
| Study group | Role | What they receive |
|---|---|---|
| Group 1 In person combination retrospective and prospective Natural History Study | Combination retrospective and prospective Natural History Study of patients living with Sanfilippo syndrome type D. The study will include home video of daily living activities via the RARE app, a mobile app designed for this study. In clinic visits will include neurocognitive, developmental, behavioral, biochemical, imaging measures as well as retrospective medical record analysis. | |
| Group 2 Retrospective medical record analysis | Retrospective collection and analysis of medical records of deceased or living patients. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change From Baseline in Cognitive function
Assessed using the Leiter-3, evaluation of nonverbal cognitive, neuropsychological abilities. The Leiter-3 emphasizes fluid intelligence a measure of the individuals innate cognitive abilities. Children's Color Trail Test (CCTT) assesses sustained attention, sequencing, and other executive functions while reducing reliance on language.
Measured: Baseline, 12 months and 24 months
Change From Baseline in Motor function
Assessed using the MFM-32, 25 foot walk test in the clinic at baseline, 12 months and 24 months and video tasks via the RARE app task assessments: 'walking up/down stairs', 'transferring to sit' at baseline, 6 months, 12 months, 18 months and 24 months. Fine and gross motor skills will be assess at baseline, 6 months, 12 months, 18 months and 24 months via the RARE app task assessments: 'writing on paper', 'eating snack', 'looking at book', 'playing Uno', 'washing hands' and 'putting on jacket'.
Measured: up to 24 months
Change From Baseline in Speech and language abilities
Assessed using the Preschool Language Scales Fifth Edition (PLS-5); parent reported questionnaire to be administered in the clinic at baseline, 12 months, 24 months. The PLS-5 is a comprehensive developmental language tool with questions that range from pre-verbal, interaction-based skills to emerging language to early literacy. Picture description is an informal speech tool used to analyze structural language skills, patients speech will be captured via the RARE app in the clinic at baseline, 12 months and 24 months. Expressive and receptive language abilities are embedded in several of the RARE app tasks: 'looking at book', 'playing Uno', 'putting on jacket' and will be captured at baseline, 6 months, 12 months, 18 months and 24 months.
Measured: up to 24 months
Secondary outcomes (1)
Change From Baseline in Functional abilities
Participants functional abilities will be captured via the RARE app at baseline, 6 months, 12 months, 18 months, 24 months while performing tasks of Activities of Daily Living (ADLs). ADLs include: Clothing Management, Eating and Drinking, Chewing and Swallowing, Hygiene, Maintaining and Changing positions, Writing Skills, and Walking. The Vineland Adaptive Behavioral Scales second addition (VABS-II) ia a parent reported clinical outcome assessment which will be administered in the clinic at baseline, 12 months and 24 months. The VABS-II Domains: Communication, Daily Living Skills, Socialization and Motor Skills will be used to assess patient's functional abilities.
Measured: up to 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Dec 2022
- Study start22 Jan 2023
- Primary completion1 Nov 2024
- Study completion1 Nov 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sanfilippo Syndrome Type DStudies 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
- Cross-sectional
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- Phoenix Nest
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Responsible party
- Sponsor
- Investigators
- Wendy Chung, MD, Principal investigator, Columbia University Department of PediatricsAndres Morales, MD, Principal investigator, Columbia University Department of Pediatrics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05648851
- Sponsor's protocol ID
- ALL-127
- Other IDs
- 1UB1NS122644-01A1
- Acronym
- MPSIIID
- Status last verified
- Jul 2025
- First submitted
- 1 Feb 2022
- Last updated
- 1 Aug 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: The data collected as part of the observational study may be analyzed and published. Phoenix Nest recognizes the importance of communicating medical study data and therefore encourages the publication of these data in reputable scientific journals and at seminars or conferences. The details of the processes of producing and reviewing reports, manuscripts, and presentations based on the data from this study will be described in the Clinical Trial Agreement between Phoenix Nest and the Investigator/institution. Consideration for authorship of all publications will be based on compliance with the Uniform Requirements for Manuscripts Submitted to Biomedical Journals ("Uniform Requirements") of the International Committee of Medical Journal Editors (http://www.icmje.org/ethical\_1author.html) and Good Publication Practices.
Study at a glance
From the registry record, last updated by the sponsor on 1 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Combination Retrospective and Prospective Natural History Study of Patients With Sanfilippo Syndrome Type D (MPSIIID)
- ClinicalTrials.gov ID
- NCT05648851
- Acronym / sponsor ID
- MPSIIID / ALL-127
- Conditions
- Sanfilippo Syndrome Type D
- Keywords
- Sanfilippo syndrome type D, mucopolysaccharidosis, MPSIIID
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Phoenix NestIndustry (pharma, biotech, devices)
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- 22 Jan 2023 (actual)
- Primary completion
- 1 Nov 2024 (actual)
- Study completion
- 1 Nov 2024 (actual)
- First posted
- 13 Dec 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.
Sanfilippo syndrome type D is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with Sanfilippo syndrome type D. The results from this study may inform future clinical studies in targeted therapies for patients with Sanfilippo syndrome type D and may serve as an external control since there are very few patients with Sanfilippo syndrome type D.
Detailed description
This is a single-center, natural history study of subjects with Sanfilippo syndrome type D. This study will combine a retrospective review of medical records and an ongoing collection of clinical data on an observational basis from participants with Sanfilippo syndrome type D.
Participants will be asked to attend clinic visits in person on a yearly basis. In clinic visits will include neurocognitive, developmental, behavioral, biochemical, imaging measures as well as retrospective medical record analysis. At 6-month intervals between clinic visits, participants will be contacted remotely for some safety assessments (e.g., collecting information about concomitant medications, concurrent illnesses, and procedure-related adverse events [AEs] and serious AEs [SAEs] since last clinic visit). At 6-month intervals, caregivers will complete questionnaires and record home video assessments using a dedicated, compliant study application (app) called RARE (Recording Application for Real-World Evidence). The RARE app consists of 9 tasks of Activities of Daily Living and socialization as well as two parent reported questionnaires.
No formal power or sample size calculations will be performed. At least 4 and up to 10 patients living with Sanfilippo syndrome type D will be enrolled in the prospective and retrospective study (group/cohort 1). An additional 5 patients deceased or living will be enrolled for retrospective medical record collection only (group/cohort 2).
The objectives of this study are:
- To enhance the understanding of the natural history and progression of Sanfilippo syndrome type D.
- To define and categorize clinical endpoints that may be used in future clinical trials.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Group 1 In person combination retrospective and prospective Natural History Study | – | –Combination retrospective and prospective Natural History Study of patients living with Sanfilippo syndrome type D. The study will include home video of daily living activities via the RARE app, a mobile app designed for this study. In clinic visits will include neurocognitive, developmental, behavioral, biochemical, imaging measures as well as retrospective medical record analysis. |
| Group 2 Retrospective medical record analysis | – | –Retrospective collection and analysis of medical records of deceased or living patients. |
Who may qualify
- Ages
- 12 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with a documented diagnosis of Sanfilippo syndrome type D and who are currently untreated with investigational products (drugs/device) for this disease
Key inclusion criteria (10 listed)
- To be eligible to participate in the study, patients must meet all of the following criteria:
- Confirmed diagnosis of Sanfilippo syndrome type D disease by all of the following:
- Written informed consent from parent or legal guardian and assent from patient, if required
- Parent/legal guardian willing to accompany the patient to all study visits
- Ability to comply with protocol requirements, in the opinion of the Investigator
Key exclusion criteria (4 listed)
- Patients who meet any of the following criteria will not be eligible to participate in the study:
- Have received an investigational drug within 30 days prior to the Baseline Visit
- Concomitant illness or medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the patient's ability to comply with protocol requirements, the patient's well-being or safety, or the interpretability of the patient's clinical data
- The presence of significant non-MPS IIID-related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study -
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 From Baseline in Cognitive function
Time frame: Baseline, 12 months and 24 months
Assessed using the Leiter-3, evaluation of nonverbal cognitive, neuropsychological abilities. The Leiter-3 emphasizes fluid intelligence a measure of the individuals innate cognitive abilities. Children's Color Trail Test (CCTT) assesses sustained attention, sequencing, and other executive functions while reducing reliance on language.
Change From Baseline in Motor function
Time frame: up to 24 months
Assessed using the MFM-32, 25 foot walk test in the clinic at baseline, 12 months and 24 months and video tasks via the RARE app task assessments: 'walking up/down stairs', 'transferring to sit' at baseline, 6 months, 12 months, 18 months and 24 months. Fine and gross motor skills will be assess at baseline, 6 months, 12 months, 18 months and 24 months via the RARE app task assessments: 'writing on paper', 'eating snack', 'looking at book', 'playing Uno', 'washing hands' and 'putting on jacket'.
Change From Baseline in Speech and language abilities
Time frame: up to 24 months
Assessed using the Preschool Language Scales Fifth Edition (PLS-5); parent reported questionnaire to be administered in the clinic at baseline, 12 months, 24 months. The PLS-5 is a comprehensive developmental language tool with questions that range from pre-verbal, interaction-based skills to emerging language to early literacy. Picture description is an informal speech tool used to analyze structural language skills, patients speech will be captured via the RARE app in the clinic at baseline, 12 months and 24 months. Expressive and receptive language abilities are embedded in several of the RARE app tasks: 'looking at book', 'playing Uno', 'putting on jacket' and will be captured at baseline, 6 months, 12 months, 18 months and 24 months.
1 secondary outcome
Change From Baseline in Functional abilities
Time frame: up to 24 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 1 Aug 2025.
- Individual participant dataSharing planned: Undecided. The data collected as part of the observational study may be analyzed and published. Phoenix Nest recognizes the importance of communicating medical study data and therefore encourages the publication of these data in reputable scientific journals and at seminars or conferences. The details of the processes of producing and reviewing reports, manuscripts, and presentations based on the data from this study will be described in the Clinical Trial Agreement between Phoenix Nest and the Investigator/institution. Consideration for authorship of all publications will be based on compliance with the Uniform Requirements for Manuscripts Submitted to Biomedical Journals ("Uniform Requirements") of the International Committee of Medical Journal Editors (http://www.icmje.org/ethical_1author.html) and Good Publication Practices.
Related trials for Sanfilippo Syndrome Type D
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Natural History to Assess Disease in Patients With MPS IIIC
Sanfilippo Syndrome Type C, Mucopolysaccharidosis (MPS) IIIC
RecruitingObservational study
Natural History Study of Participants With Sanfilippo Syndrome Type IIIC
Sanfilippo Syndrome Type C
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.
Wendy Chung, MD principal investigator
Columbia University Department of Pediatrics
Andres Morales, MD principal investigator
Columbia University Department of Pediatrics
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 Sanfilippo Syndrome Type D, run by Phoenix Nest 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 10 inclusion and 4 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 1 Aug 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 in Cognitive function (time frame: Baseline, 12 months and 24 months). The study lists 3 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 1 Aug 2025; AzTrials last refreshed its copy on 26 Oct 2026.