This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
This is a multi-center, natural history study of subjects with Sanfilippo syndrome type C or MPS IIIC. This study will combine a retrospective review of medical records and an ongoing collection of clinical data on an observational basis. Real-world data will be collected at home using a recording device. 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 C-RARE (Recording Application for Real-World Evidence). The C-RARE app consists of 9 tasks of Activities of Daily Living and socialization as well as three parent reported Sanfilippo specific questionnaires. The objectives of this study are: * To enhance the understanding of the natural history and progression of MPS IIIC syndrome on behavior, cognitive abilities, mobility, vision, hearing, speech, and expressive and receptive language * To define and categorize clinical endpoints that may be used in future clinical trials
Study Type
OBSERVATIONAL
Enrollment
30
The University of Texas Southwestern Medical Center
Dallas, Texas, United States
NOT_YET_RECRUITINGHospices Civils De Lyon
Bron, France
RECRUITINGChange From Baseline in Development Quotient (DQ) Using Bayley Scales of Infant Development Assessment Fourth Edition
The Bayley Scales of Infant and Toddler Development, 4th edition (Bayley-4) is a standardized developmental assessment that provides raw scores for 5 subtests (cognitive, expressive communication, receptive communication, fine motor, gross motor) and standard score norms converted to percentiles for 3 scales (cognition, communication, motor). The Bayley-4 raw scores range from 0-162 for the cognitive subtest, 0-84 for the receptive communication subtest, 0-74 for the expressive communication subtest, 0-92 for the fine motor subtest, and 0-116 for the gross motor subtest; a higher score denotes a better outcome. The Bayley-4 standard score norms are converted to percentiles from \<0.1 to \>99.9 for the cognitive, language, and motor scales; a higher percentile denotes a better outcome.
Time frame: Baseline, 12 months and 24 months
Change From Baseline in Vineland Adaptive Behavior Scales Second Edition (VABS-II) Development Quotient (DQ) Score
The VABS-II test measures adaptive behaviors, including the ability to cope with environmental changes, to learn new everyday skills, and to demonstrate independence. The DQ is a means to express a neurodevelopmental/cognitive delay. The DQ was computed as a ratio and expressed as a percentage using the age-equivalent score divided by the age at testing (\[age-equivalent score/chronological age\] × 100; range, 0, 100). The overall DQ score is calculated from the mean age-equivalent score obtained by averaging out the age-equivalent scores for the all the sub-domains except for Gross and Fine motor skills. This test measures the following 5 key domains: communication, daily living skills, socialization, motor skills, and the adaptive behavior composite (a composite of the other 4 domains). A positive value indicates improvement in health and cognition.
Time frame: Baseline, 12 months and 24 months
Change From Baseline on the Color Trail Test Time Score
Children's Color Trail Test (CCTT) assesses sustained attention, sequencing, and other executive functions while reducing reliance on language. A shorter time to completion denotes a better outcome.
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Time frame: Baseline, 12 months and 24 months
Change From Baseline of Regional Brain Volumes
Assessed by MRI, and especially cortical grey matter volume (CGMV). The brain MRI will assess volumes of the whole brain, basal ganglia, cerebellum, cerebellar gray matter, cerebellar white matter, cerebral white matter, cortical gray matter, cortical white matter, subcortical gray matter and ventricles; corpus callosum, cortical thickness; and whole brain apparent diffusion coefficient.
Time frame: Baseline, 12 months and 24 months
Change From Baseline on the Assessment of Behavioral Changes in Sanfilippo (ABCS)
There are 12 questions in the ABCS relating to behavior(s) that caregivers of children with Sanfilippo might find challenging to manage. Change from baseline will be determined by raw scores, a higher score denoting improvement in behavior.
Time frame: Baseline, 6 months, 12 months, 18 months, 24 months
Change From Baseline on the Functional Abilities Descriptive Analysis of Type C- Recording Application for Real-world Evidence (C-RARE)
Participants functional abilities will be captured via the C- 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.
Time frame: Baseline, 6 months, 12 months, 18 months, 24 months
Change From Baseline on the Peabody Picture Vocabulary Test, Fifth Edition
The PPVT-5 is a norm-referenced and individually administered measure of receptive vocabulary. Upon hearing a word, the child will be asked to indicate (by pointing) which picture among four options is specified.
Time frame: Baseline, 12 months, 24 months
Change From Baseline on the Expressive Vocabulary Test Third Edition
The EVT-3 is a norm-referenced and individually administered test of expressive language.
Time frame: Baseline, 12 months, 24 months
Change From Baseline in Speech Through Picture Description
Picture Description will be used to measure speech rate, utterance length, grammatical competence, lexical retrieval ability, and motor speech features in subjects.
Time frame: Baseline, 12 months, 24 months