NCT02037880

Brief Summary

The purpose of this study is to assess rates of decline in motor and cognitive functional measures, and to assess potential biomarkers, in order to identify potential outcome measure appropriate for use in therapeutic clinical trials.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
25

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Feb 2014

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

November 26, 2013

Completed
2 months until next milestone

First Posted

Study publicly available on registry

January 16, 2014

Completed
16 days until next milestone

Study Start

First participant enrolled

February 1, 2014

Completed
1.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 1, 2015

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

November 1, 2015

Completed
Last Updated

November 16, 2015

Status Verified

November 1, 2015

Enrollment Period

1.7 years

First QC Date

November 26, 2013

Last Update Submit

November 12, 2015

Conditions

Mucopolysaccharidosis Type IIIAMucopolysaccharidosis Type IIIB

Keywords

MucopolysaccharidosisMPSSanfilippo

Outcome Measures

Primary Outcomes (1)

  • Cognitive function

    Assessed using the Leiter International Performance assessment, a non-verbal assessment of cognitive function.

    up to 12 months

Secondary Outcomes (3)

  • Adaptive functioning

    Months 0, 6, and 12

  • Emotional/behavioral function

    Months 0, 6, and 12

  • White and grey matter brain volumes

    Months 0 and 12

Other Outcomes (2)

  • Serum and cerebrospinal fluid NAGLU (MPSIIIB subjects) or SGSH (MPSIIIA subjects) levels

    Months 0 and 12

  • Liver size

    Months 0 and 12

Study Arms (1)

MPS IIIA/B Subjects

Cohort will be followed for one year to assess natural history of the disease.

Procedure: Lumbar punctureDevice: Magnetic Resonance Imaging (MRI) of the brain

Interventions

Lumbar puncturePROCEDURE
MPS IIIA/B Subjects
Magnetic Resonance Imaging (MRI) of the brainDEVICE
MPS IIIA/B Subjects

Eligibility Criteria

Age2 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Individuals affected by MPS IIIA or MPS IIIB will be considered for this study.

You may qualify if:

  • Age 2 years old or greater
  • Confirmed diagnosis of MPSIIIA or MPSIIIB by either of two methods:
  • No detectable or significantly reduced NAGLU (MPSIIIB) or SGSH (MPSIIIA) activity in serum or leukocyte assay
  • Genomic DNA mutation analysis demonstrating a homozygous or compound heterozygous mutations in the NAGLU (MPSIIIB) or SGSH (MPSIIIA) genes
  • Clinical history of or examination features of neurologic dysfunction.

You may not qualify if:

  • Inability to participate in the clinical evaluations
  • Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics
  • Inability to be safely sedated in the opinion of the clinical anesthesiologist

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Biobanking will include: 1. Serum/Plasma 2. Cerebrospinal fluid

MeSH Terms

Conditions

Mucopolysaccharidosis IIIMucopolysaccharidoses

Interventions

Spinal PunctureMagnetic Resonance Imaging

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLysosomal Storage DiseasesMucinosesConnective Tissue DiseasesSkin and Connective Tissue DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

BiopsySpecimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisDiagnostic Techniques, NeurologicalPuncturesTherapeuticsSurgical Procedures, OperativeInvestigative TechniquesTomographyDiagnostic Imaging

Study Officials

  • Kevin M Flanigan, MD

    Nationwide Children's Hospital, Columbus, Ohio

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
MD

Study Record Dates

First Submitted

November 26, 2013

First Posted

January 16, 2014

Study Start

February 1, 2014

Primary Completion

November 1, 2015

Study Completion

November 1, 2015

Last Updated

November 16, 2015

Record last verified: 2015-11

Locations

US(1)