Page last updated: December 13, 2022
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Phoenix Nest and National Institute of Neurological Disorders and Stroke (NINDS) are conducting a observational research study, which can also be called a natural history study, into Sanfilippo syndrome Type D (MPS IIID).
The purpose of the research study is to document, through retrospective and prospective data collection, disease progression in children with Sanfilippo syndrome type D. The results from this study may inform future clinical studies in targeted therapies for subjects with Sanfilippo syndrome type D and may serve as an external control since there are very few subjects with Sanfilippo syndrome type D.
Number of participants: 15 children with MPS IIID
Duration: 2 years, which includes yearly in-person clinic visits and caregivers completing app-based questionnaires and record home video assessments every six months
Locations: United States; Columbia University Irving Medical Center, New York City, New York
Qualifications to Participate:
Inclusion Criteria | 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)
Exclusion Criteria | 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
Learn more: For more information about this study and/or to sign up, read about it on ClinicalTrials.gov.