Natural History Observational Study of MPS IIIa in SMC

NCT04918641 | Unknown

• 1 other identifier: SMC-2020-10-164-003
• Study Type: observational
• Target: 25
• Locations: 0 countries
• Sites: N/A

Brief Summary

To characterize the clinical course of mucopolysaccharidosis type IIIA (MPS IIIA), and identify potential endpoints for future treatment trials.

Conditions

Sanfilippo Syndrome A

Outcome Measures

Primary Outcomes (3)

• 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.

  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.

  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.

  Baseline, 12 months, and 24 months

Secondary Outcomes (6)

• Imaging characteristics

  Baseline, 12 months

• Echocardiography

  Baseline, 6 months, 12 months, and 24 months

• Hearing assessments

  Baseline, 12 months, and 24 months

• Sleep habits

  Baseline, 12 months, and 24 months

• Ophthalmology assessments

  Baseline, 12 months, and 24 months

Study Arms (1)

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.

Other: assessment

Interventions

assessment OTHER

Physical, developmental, neurological, behavioral, and neurocognitive assessments

No treatment

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Initial patient eligibility is based on patient age and on a confirmed diagnosis of MPS IIIA.

You may qualify if:

• Confirmed diagnosis of MPS IIIA
• Has the ability to comply with protocol requirements, in the opinion of the investigator

You may not qualify if:

• 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.

Sponsors & Collaborators

• Samsung Medical Center: lead

Biospecimen

Retention: SAMPLES WITH DNA

CSF, urine, and serum

MeSH Terms

Conditions

Mucopolysaccharidosis III

Interventions

Restraint, Physical

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Behavior Control; Therapeutics; Immobilization; Investigative Techniques

Study Officials

• SungYoon Cho

  Samsung Medical Center

  STUDY DIRECTOR

Central Study Contacts

SungYoon Cho

CONTACT

+82-2-3410-3537; nadri1217@naver.com

MinSun Kim

CONTACT

+82-2-3410-3537

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 2 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 28, 2021
• First Posted: June 9, 2021
• Study Start: June 30, 2021
• Primary Completion: July 28, 2023
• Study Completion: July 28, 2024
• Last Updated: June 9, 2021

Record last verified: 2021-04