Natural History Observational Study of MPS IIIa in SMC

study id #: NCT04918641

condition: Sanfilippo Syndrome A

status: Not yet recruiting

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

intervention: assessment

results: https://clinicaltrials.gov/ct2/show/results/NCT04918641

last updated: February 26, 2022

start date: June 30, 2021

estimated completion: July 28, 2024

last updated: June 9, 2021

size / enrollment: 25

primary outcomes:

• 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:

• 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
• Change From Baseline in Quality of Life (ITQoL/PedsQL) Questionnaire
  Baseline, 12 months, and 24 months

inclusion criteria:

exclusion criteria: Criteria:

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.

sponsor: Samsung Medical Center

contacts: SungYoon Cho, +82-2-3410-3537, nadri1217@naver.com

investigators: SungYoon Cho,Samsung Medical Center

trial center locations: