Natural History Study of Patients With MPS IIIA

An Observational, Prospective, Multi-center, Natural History Study of Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)

Evaluate the clinical progression in patients with MPS IIIA who are untreated with any investigational product and to obtain standardized assessments: neurocognitive, behavioral, sleep-wake habits and effect of MPS IIIA on the quality of life of patients and their families.

Study Overview

• Status: Completed
• Conditions: Mucopolysaccharidosis IIIA

Detailed Description

This is a multicenter, multinational, longitudinal, observational study in children aged up to and including 9 years, who have been diagnosed with MPS IIIA. The study will detail the natural course of MPS IIIA via standardized clinical, biochemical, neurocognitive, developmental, behavioral and imaging measures. This information is anticipated to inform the design and interpretation of future interventional studies.

• Study Type: Observational
• Enrollment (Actual): 23

Contacts and Locations

Study Locations

• Brazil
  • Porto Alegre, Brazil, 90035-003
    • Hospital de Clinicas de Porto Alegre
• France
  • Paris, France
    • Armand Trousseau Public Hospital
• Germany
  • Hamburg, Germany
    • University Medical Center Hamburg-Eppendorf
• Netherlands
  • Amsterdam, Netherlands
    • Academic Medical Center, Emma Children's Hospital
• United Kingdom
  • London, United Kingdom
    • Great Ormond Street Hospital NHS Foundation Trust

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 9 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Subjects diagnosed with MPS IIIA

Description

Inclusion Criteria:

• Documented MPS IIIA diagnosis
• Children up to and including 9 years of age
• The patient is sufficiently able, in the opinion of the Investigator, to adhere to the study visit schedule and other protocol requirements
• The patient's parent(s) or legal guardian(s) has signed written informed consent, according to the local regulations and after all relevant aspects of the -study have been explained and discussed

Exclusion Criteria:

• The patient is participating in a clinical trial of any potential disease-modifying investigational medicinal product or taking high dose (>100 mg/kg/day) synthetic genistein (patients on low dose or naturally derived genistein can be included in this study).
• The patient has received a hematopoietic stem cell or bone marrow transplant or gene therapy.
• The patient has received enzyme replacement therapy in the last 6 months.
• Homozygous or compound heterozygous for the S298P mutation or the investigator and/or trial steering committee considers the patient not to have the classical severe form of MPS IIIA.
• Individuals with rare and unrelated serious comorbidities e.g. Down syndrome, intraventricular hemorrhage in the new-born period, or extreme low birth weight (<1500 grams).
• Visual or hearing impairment sufficient, in the clinical judgment of the investigator, to preclude cooperation with neurodevelopmental testing. Use of hearing aids is permitted.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
The change from baseline in cognitive function using the Bayley scales of infant and toddler development third edition	Baseline, and every 6 months, for up to 24 months

Secondary Outcome Measures

Outcome Measure	Time Frame
Change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior scale	Baseline and every 6 months up to 24 months
Sleep disturbances measured by Actigraphy	Baseline and every 3 months up to 24 months
Patient Quality of Life Questionnaires	Baseline and every 6 months up to 24 months
Change from baseline in total cortical grey matter volume	Baseline, 12 months, 24 months

Collaborators and Investigators

• Sponsor: LYSOGENE

Study record dates

Study Major Dates

• Study Start: April 1, 2016
• Primary Completion (Actual): May 1, 2019
• Study Completion (Actual): May 1, 2019

Study Registration Dates

• First Submitted: April 15, 2016
• First Submitted That Met QC Criteria: April 18, 2016
• First Posted (Estimate): April 21, 2016

Study Record Updates

• Last Update Posted (Actual): August 31, 2021
• Last Update Submitted That Met QC Criteria: August 30, 2021
• Last Verified: August 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Mucopolysaccharidoses
• Other Study ID Numbers: P3-LYS-SAF

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED