A Natural History Study of Sanfilippo Syndrome Type D

NCT05648851 | Completed

• 2 other identifiers: ALL-1271UB1NS122644-01A1
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Sanfilippo Syndrome Type D

Keywords

Sanfilippo syndrome type D; mucopolysaccharidosis; MPSIIID

Outcome Measures

Primary Outcomes (3)

• 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.

  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'.

  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.

  up to 24 months

Secondary Outcomes (1)

• Change From Baseline in Functional abilities

  up to 24 months

Study Arms (2)

Group 1 In person combination retrospective and prospective Natural History Study

Combination retrospective and prospective Natural History Study of patients living with Sanfilippo syndrome type D. The study will include home video of daily living activities via the RARE app, a mobile app designed for this study. In clinic visits will include neurocognitive, developmental, behavioral, biochemical, imaging measures as well as retrospective medical record analysis.

Group 2 Retrospective medical record analysis

Retrospective collection and analysis of medical records of deceased or living patients.

Eligibility Criteria

• Age: 12 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a documented diagnosis of Sanfilippo syndrome type D and who are currently untreated with investigational products (drugs/device) for this disease

You may qualify if:

• To be eligible to participate in the study, patients must meet all of the following criteria:
• Confirmed diagnosis of Sanfilippo syndrome type D disease by all of the following:
• Deficiency in alpha-GNS enzyme activity
• Has presented with signs/symptoms consistent with Sanfilippo syndrome type D, or, for individuals who have not presented with signs/symptoms of disease (eg, siblings of known patients), the determination of eligibility will be at the discretion of the Sponsor in conjunction with the site Investigator
• Genomic DNA analysis demonstrating homozygous or compound heterozygous, pathogenic and/or potentially pathogenic variants in the GNS gene
• Accumulated GAG HS in urine
• Written informed consent from parent or legal guardian and assent from patient, if required
• Parent/legal guardian willing to accompany the patient to all study visits
• Ability to comply with protocol requirements, in the opinion of the Investigator
• Negative urine pregnancy test at screening (nonsterile females of childbearing potential only) -

You may not qualify if:

• Patients who meet any of the following criteria will not be eligible to participate in the study:
• Have received an investigational drug within 30 days prior to the Baseline Visit
• Concomitant illness or medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the patient's ability to comply with protocol requirements, the patient's well-being or safety, or the interpretability of the patient's clinical data
• The presence of significant non-MPS IIID-related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study -

Sponsors & Collaborators

• Phoenix Nest: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

Columbia University Irving Medical Center

New York, New York, 10032, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood (plasma and serum), cerebrospinal fluid (CSF), urine

MeSH Terms

Conditions

Mucopolysaccharidosis III; Mucopolysaccharidoses

Condition Hierarchy (Ancestors)

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

Study Officials

• Wendy Chung, MD

  Columbia University Department of Pediatrics

  PRINCIPAL INVESTIGATOR

• Andres Morales, MD

  Columbia University Department of Pediatrics

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 1, 2022
• First Posted: December 13, 2022
• Study Start: January 22, 2023
• Primary Completion: November 1, 2024
• Study Completion: November 1, 2024
• Last Updated: August 1, 2025

Record last verified: 2025-07

Locations

US (1)