CompletedNot Applicable

A Natural History Study of Sanfilippo Syndrome Type D

United States10 participantsStarted 2023-01-22

Plain-language 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.

Who can participate

Age range12 Months

SexALL

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Inclusion 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

Exclusion criteria

✕. 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 -

What they're measuring

Change From Baseline in Cognitive function

Timeframe: Baseline, 12 months and 24 months

Change From Baseline in Motor function

Timeframe: up to 24 months

Change From Baseline in Speech and language abilities

Timeframe: up to 24 months

Trial details

NCT IDNCT05648851

SponsorPhoenix Nest

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2024-11-01

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