An observational, prospective, multi-centre, natural history study of patients with mucopolysaccharidosis type IIIA

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 5

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 hemapoietic stem cell or bone marrow transplant or gene therapy.
* The patient has received enzyme replacement therapy.
* 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 haemorrhage 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 & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Study endpoints:<br /><br>1. The change from baseline in cognitive function using the Bayley scales of<br /><br>infant and toddler development third edition<br /><br>2. The change from baseline in the adaptive behaviour composite standard score<br /><br>as measured by the Vineland Adaptive Behaviour Scales, second edition -<br /><br>Expanded interview (VABS-II)<br /><br>3. Longitudinal description of sleep disturbances in MPSIIIA children using the<br /><br>Children*s sleep habits questionnaire, diary and Actigraphy<br /><br>4. A description of the patient and parents quality of life<br /><br>5. A description of the adverse events<br /><br>6. The change from baseline in total cortical grey matter volume will be<br /><br>recorded, ONLY if brain MRI is standard of care<br /><br>7. Concentrations of biomarkers will be studied, ONLY if drawing blood/lumbar<br /><br>puncture is standard of care</p><br>

Secondary Outcome Measures