Natural History Studies of Mucopolysaccharidosis III | NCT02037880

Studies
Natural History Studies of Mucopolysaccharidosis III

NCT02037880

Sponsor

Nationwide Children's Hospital

Status

Completed

Last Update Posted

Nov 16, 2015Estimated

Enrollment

25Actual

Phase

Not provided

Conditions

Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB

Interventions

Lumbar puncture
Magnetic Resonance Imaging (MRI) of the brain

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Nov 2015

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 2014

Primary Completion Date

Nov 2015Actual

Completion Date

Nov 2015Actual

First Submitted Date

Nov 26, 2013

First Submission Date that Met QC Criteria

Jan 15, 2014

First Posted Date

Jan 16, 2014Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Nov 12, 2015

Last Update Posted Date

Nov 16, 2015Estimated

Sponsor/Collaborators Module

Responsible Party, by Official Title

Kevin Flanigan, MD, Nationwide Children's HospitalPrincipal Investigator

Lead Sponsor

Nationwide Children's HospitalOTHER

Collaborators

Name	Class
Sanfilippo Children's Research Foundation	UNKNOWN
The Sanfilippo Research Foundation	UNKNOWN
The Children's Medical Research Foundation	UNKNOWN

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) is a group of four devastating genetic diseases that result in the abnormal accumulation of glycosaminoglycans in body tissues. In MPSIII the predominant symptoms occur due to accumulation within the central nervous system (CNS), including the brain and spinal cord, resulting in cognitive decline, motor dysfunction, and eventual death.

In anticipation for future therapeutic studies for MPSIIIA and MPSIIIB, we are performing a natural history study to identify the following:

Individual rates of decline in motor and cognitive function in a cohort of potential clinical trial patients
The natural history of outcome measures in order to assess their appropriateness as outcomes in an eventual trial
Baseline functional data in patients who will be potential candidates for an eventual trial
Biomarkers of disease progression over a 12-month interval, including changes in brain MRI and in cerebrospinal fluid

Patients in this study will need to come to Nationwide Children's Hospital in Columbus, Ohio, three times. At each of these three time points, cognitive outcome measures will be assessed: at baseline (visit 1), 6 months (visit 2), and at 12 months (visit 3). At baseline (visit 1) and 12 months (visit 3), an MRI and a lumbar puncture will be performed.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

25Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
MPS IIIA/B Subjects		Cohort will be followed for one year to assess natural history of the disease.	Procedure: Lumbar puncture Device: Magnetic Resonance Imaging (MRI) of the brain

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Lumbar puncture	Procedure		MPS IIIA/B Subjects
Magnetic Resonance Imaging (MRI) of the brain

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Cognitive function	Assessed using the Leiter International Performance assessment, a non-verbal assessment of cognitive function.	up to 12 months

Secondary Outcomes

Measure	Description	Time Frame
Adaptive functioning	Parental assessment of adaptive functioning using the Adaptive Behavioral Assessment System	Months 0, 6, and 12
Emotional/behavioral function	Assessment of emotional/behavioral problems using the Child Behavioral Checklist

Other Outcomes

Measure	Description	Time Frame
Serum and cerebrospinal fluid NAGLU (MPSIIIB subjects) or SGSH (MPSIIIA subjects) levels	Measurement of NAGLU or SGSH activity in serum (by venipuncture) and CSF (by lumbar puncture). Lumbar puncture will be performed under sedation.	Months 0 and 12
Liver size

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Age 2 years old or greater
Confirmed diagnosis of MPSIIIA or MPSIIIB by either of two methods:
1. No detectable or significantly reduced NAGLU (MPSIIIB) or SGSH (MPSIIIA) activity in serum or leukocyte assay
2. 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.

Exclusion Criteria:

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

2 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Kevin M Flanigan, MD	Nationwide Children's Hospital, Columbus, Ohio	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Nationwide Children's Hospital		Columbus	Ohio	43205	United States

Condition Browse Module

MeSH Terms

ID	Term
D009084	Mucopolysaccharidosis III
D009083	Mucopolysaccharidoses

Ancestor Terms

ID	Term
D002239	Carbohydrate Metabolism, Inborn Errors
D008661	Metabolism, Inborn Errors
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D013129	Spinal Puncture
D008279	Magnetic Resonance Imaging

Ancestor Terms

ID	Term
D001706	Biopsy
D013048	Specimen Handling
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures

Browse Leaves

Not provided

Browse Branches

Not provided