Natural History Study of Patients With MPS IIIA

NCT02746341 | Completed

• 1 other identifier: P3-LYS-SAF
• Study Type: observational
• Target: 23
• Locations: 5 countries
• Sites: 5

Brief Summary

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.

Conditions

Mucopolysaccharidosis IIIA

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (4)

• 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

Eligibility Criteria

• Age: 0 Years - 9 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Subjects diagnosed with MPS IIIA

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• LYSOGENE: lead

Study Sites (5)

Hospital de Clinicas de Porto Alegre

Porto Alegre, 90035-003, Brazil

Location

Armand Trousseau Public Hospital

Paris, France

Location

University Medical Center Hamburg-Eppendorf

Hamburg, Germany

Location

Academic Medical Center, Emma Children's Hospital

Amsterdam, Netherlands

Location

Great Ormond Street Hospital NHS Foundation Trust

London, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Cerebral Spinal Fluid

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 15, 2016
• First Posted: April 21, 2016
• Study Start: April 1, 2016
• Primary Completion: May 1, 2019
• Study Completion: May 1, 2019
• Last Updated: August 31, 2021

Record last verified: 2021-08

Locations

BR (1); DE (1); FR (1); GB (1); NL (1)