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.
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: 1. To enhance the understanding of the natural history and progression of Sanfilippo syndrome type D. 2. To define and categorize clinical endpoints that may be used in future clinical trials.
Study Type
OBSERVATIONAL
Enrollment
10
Columbia University Irving Medical Center
New York, New York, United States
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.
Time frame: 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'.
Time frame: 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.
Time frame: up to 24 months
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.
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Time frame: up to 24 months