Sanfilippo Syndrome ANCT04918641
Natural History Observational Study of MPS IIIa in SMC
An observational study of Sanfilippo Syndrome A, run by Samsung Medical Center.
Trial summary
To characterize the clinical course of mucopolysaccharidosis type IIIA (MPS IIIA), and identify potential endpoints for future treatment trials. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Sanfilippo Syndrome A
- What is being tested?
- assessment
- How many people
- 25 participants
- Where
- No sites listed yet
- Study dates
- 30 Jun 2021to 28 Jul 2024
- How long will I take part?
- 2 Years
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Initial patient eligibility is based on patient age and on a confirmed diagnosis of MPS IIIA.
Who may be able to join
- Confirmed diagnosis of MPS IIIA
- Has the ability to comply with protocol requirements, in the opinion of the investigator
Who cannot join
- Patient's assent is unattainable, or the patient's parent(s), or patient's legally authorized representative(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.
Trial locations and contacts
No sites are listed yet.
MinSun Kim contact
About this study
Official title: Prospective, Natural History Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)
To characterize the clinical course of mucopolysaccharidosis type IIIA (MPS IIIA), and identify potential endpoints for future treatment trials.
- Conditions
- Sanfilippo Syndrome A
- Being tested
- assessment
- Medical subject headings
- Mucopolysaccharidosis III
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
assessmentOther
Physical, developmental, neurological, behavioral, and neurocognitive assessments
| Study group | Role | What they receive |
|---|---|---|
| No treatment | This is a longitudinal, prospective, observational, natural history study of patients with MPS IIIA to identify potential surrogate endpoints for future trials via standardized clinical, biochemical, neurocognitive, developmental, behavioral, and imaging measures. Receives: Other: assessment |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change From Baseline in Bayley Scales of Infant Development-III/Kaufman Assessment Battery for Children-II (BSID-III/KABC-II) Age-Equivalent Scores
The Bayley Scales of Infant and Toddler Development-Third Edition (BSID-III) is an individually administered test designed to assess the developmental functioning of infants and toddlers. The Bayley-III assesses development in five areas: cognitive, language, motor, social-emotional, and adaptive behavior. Children under the age of 3 will be tested for this. The Kaufman Assessment Battery for Children-Second Edition (KABC-II) is a clinical instrument for assessing cognitive development. Children over the age of 3 will be tested for this. Raw scores will be converted to age- equivalent scores to measure ability, skill, and knowledge, expressed as the age at which most individuals reach the same level (age norm; range: 0, unbound ). A positive value indicates improvement. The BSID-III and KABC-II age- equivalent scores will be based on the cognitive domain and average non-verbal age-equivalent score, respectively.
Measured: Baseline, 12 months, and 24 months
Change From Baseline in Vineland Adaptive Behavior Scales-II (VABS-II) Age-equivalent Scores
The age equivalent score represents the age in months of the typical and normal individual who would achieve the same result as the one who was tested.
The age equivalent scores are assessed by Vineland Adaptive Behavior Scales, Expanded Interview Form, Second edition (VABS-II). The Vineland is designed to measure the adaptive behavior of individuals from birth to age 90.
The Vineland-II contains 5 domains each with 2-3 subdomains. The main domains are Communication, Daily Living Skills, Socialization, Motor Skills, and Maladaptive Behavior. A positive value indicates improvement in health and cognition.
Measured: Baseline, 12 months, and 24 months
Change from Baseline in MPS health Assessment Questionnaire, Sanfilippo Behavior Rating Scale
Change from baseline in the SBRS scale assessed by parent report using the Sanfilippo Behavior Rating Scale form.
Measured: Baseline, 12 months, and 24 months
Secondary outcomes (6)
Imaging characteristics
MRI will be used to assess changes in the size of various organs affected by the disease, including the brain, liver, and spleen.
Measured: Baseline, 12 months
Echocardiography
2-D Echocardiography will be used to assess heart valve abnormalities and ventricular hypertrophy.
Measured: Baseline, 6 months, 12 months, and 24 months
Hearing assessments
The function of hearing will be assessed using Auditory Brainstem Response (ABR).
Measured: Baseline, 12 months, and 24 months
Sleep habits
Patient sleep habits will be assessed using Children's Sleep Habits Questionnaire (CSHQ).
Measured: Baseline, 12 months, and 24 months
Ophthalmology assessments
Change from Baseline in lens opacification
Measured: Baseline, 12 months, and 24 months
Change From Baseline in Quality of Life (ITQoL/PedsQL) Questionnaire
Infant Toddler Quality of Life (ITQoL): The ITQoL Questionnaire is a generic, validated health status measure for children including items and scales to measure aspects of physical functioning, development, pain, mood, behavior, general health, and impact on parents. A positive value indicates improvement.
Pediatric Quality of Life Inventory (PedsQL): Pediatric Quality of Life Inventory (PedsQL) is a modular approach to measuring health-related quality of life (HRQOL) in healthy children and adolescents and those with acute and chronic health conditions. Lower scores indicate better functioning.
Measured: Baseline, 12 months, and 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jun 2021
- Study start30 Jun 2021 (estimated)
- Primary completion28 Jul 2023 (estimated)
- Study completion28 Jul 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sanfilippo Syndrome AStudies of the same condition, open and under way.
- More trials run by Samsung Medical CenterThe 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 (estimated)
- Target duration
- 2 Years
Sponsor and investigators
- Lead sponsor
- Samsung Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- SungYoon Cho, Study director, Samsung Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04918641
- Sponsor's protocol ID
- SMC-2020-10-164-003
- Status last verified
- Apr 2021
- First submitted
- 28 Apr 2021
- Last updated
- 9 Jun 2021
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Jun 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective, Natural History Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)
- ClinicalTrials.gov ID
- NCT04918641
- Acronym / sponsor ID
- SMC-2020-10-164-003
- Conditions
- Sanfilippo Syndrome A
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Samsung Medical CenterUniversity, hospital or other
- Study start
- 30 Jun 2021 (estimated)
- Primary completion
- 28 Jul 2023 (estimated)
- Study completion
- 28 Jul 2024 (estimated)
- First posted
- 9 Jun 2021 (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.
To characterize the clinical course of mucopolysaccharidosis type IIIA (MPS IIIA), and identify potential endpoints for future treatment trials.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 2 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| No treatment | – | Other: assessmentThis is a longitudinal, prospective, observational, natural history study of patients with MPS IIIA to identify potential surrogate endpoints for future trials via standardized clinical, biochemical, neurocognitive, developmental, behavioral, and imaging measures. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Initial patient eligibility is based on patient age and on a confirmed diagnosis of MPS IIIA.
Key inclusion criteria (2 listed)
- Confirmed diagnosis of MPS IIIA
- Has the ability to comply with protocol requirements, in the opinion of the investigator
Key exclusion criteria (1 listed)
- Patient's assent is unattainable, or the patient's parent(s), or patient's legally authorized representative(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.
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 |
|---|---|---|
| assessmentPhysical, developmental, neurological, behavioral, and neurocognitive assessments | Other | No treatment |
Primary outcome
Change From Baseline in Bayley Scales of Infant Development-III/Kaufman Assessment Battery for Children-II (BSID-III/KABC-II) Age-Equivalent Scores
Time frame: Baseline, 12 months, and 24 months
The Bayley Scales of Infant and Toddler Development-Third Edition (BSID-III) is an individually administered test designed to assess the developmental functioning of infants and toddlers. The Bayley-III assesses development in five areas: cognitive, language, motor, social-emotional, and adaptive behavior. Children under the age of 3 will be tested for this. The Kaufman Assessment Battery for Children-Second Edition (KABC-II) is a clinical instrument for assessing cognitive development. Children over the age of 3 will be tested for this. Raw scores will be converted to age- equivalent scores to measure ability, skill, and knowledge, expressed as the age at which most individuals reach the same level (age norm; range: 0, unbound ). A positive value indicates improvement. The BSID-III and KABC-II age- equivalent scores will be based on the cognitive domain and average non-verbal age-equivalent score, respectively.
Change From Baseline in Vineland Adaptive Behavior Scales-II (VABS-II) Age-equivalent Scores
Time frame: Baseline, 12 months, and 24 months
The age equivalent score represents the age in months of the typical and normal individual who would achieve the same result as the one who was tested. The age equivalent scores are assessed by Vineland Adaptive Behavior Scales, Expanded Interview Form, Second edition (VABS-II). The Vineland is designed to measure the adaptive behavior of individuals from birth to age 90. The Vineland-II contains 5 domains each with 2-3 subdomains. The main domains are Communication, Daily Living Skills, Socialization, Motor Skills, and Maladaptive Behavior. A positive value indicates improvement in health and cognition.
Change from Baseline in MPS health Assessment Questionnaire, Sanfilippo Behavior Rating Scale
Time frame: Baseline, 12 months, and 24 months
Change from baseline in the SBRS scale assessed by parent report using the Sanfilippo Behavior Rating Scale form.
6 secondary outcomes
Imaging characteristics
Time frame: Baseline, 12 months
Echocardiography
Time frame: Baseline, 6 months, 12 months, and 24 months
Hearing assessments
Time frame: Baseline, 12 months, and 24 months
Sleep habits
Time frame: Baseline, 12 months, and 24 months
Ophthalmology assessments
Time frame: Baseline, 12 months, and 24 months
Change From Baseline in Quality of Life (ITQoL/PedsQL) Questionnaire
Time frame: Baseline, 12 months, and 24 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jun 2021.
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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.
MinSun Kim contact
SungYoon Cho study director
Samsung Medical Center
Questions about this trial
What is this clinical trial studying?
An observational study of Sanfilippo Syndrome A, run by Samsung Medical Center.
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 2 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 9 Jun 2021. Status can change between updates, so confirm with the study contact before making plans.
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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact SungYoon Cho (+82-2-3410-3537, nadri1217@naver.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change From Baseline in Bayley Scales of Infant Development-III/Kaufman Assessment Battery for Children-II (BSID-III/KABC-II) Age-Equivalent Scores (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 9 Jun 2021.