Natural History Study of Patients With MPS IIIA (NCT02746341) | Clinical Trial Compass
CompletedNot Applicable
Natural History Study of Patients With MPS IIIA
Brazil, France, Germany23 participantsStarted 2016-04
Plain-language 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.
Who can participate
Age range0 Years – 9 Years
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
What they're measuring
1
The change from baseline in cognitive function using the Bayley scales of infant and toddler development third edition
Timeframe: Baseline, and every 6 months, for up to 24 months