Clinical trial NCT02746341: Natural History Study of Patients With MPS IIIA
Official title: An Observational, Prospective, Multi-center, Natural History Study of Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Mucopolysaccharidosis IIIA
Lead sponsor: LYSOGENE
Sponsor class: INDUSTRY
First posted: 2016-04-21
Enrollment: 23
Sex: ALL
Minimum age (years): 0
Maximum age (years): 9
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Subjects diagnosed with MPS IIIA

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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: 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
Secondary outcomes:
measure: Change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior scale
timeFrame: Baseline and every 6 months up to 24 months
measure: Sleep disturbances measured by Actigraphy
timeFrame: Baseline and every 3 months up to 24 months
measure: Patient Quality of Life Questionnaires
timeFrame: Baseline and every 6 months up to 24 months
measure: Change from baseline in total cortical grey matter volume
timeFrame: Baseline, 12 months, 24 months
Other outcomes:
Locations:
city: Porto Alegre
country: Brazil
facility: Hospital de Clinicas de Porto Alegre
city: Paris
country: France
facility: Armand Trousseau Public Hospital
city: Hamburg
country: Germany
facility: University Medical Center Hamburg-Eppendorf
city: Amsterdam
country: Netherlands
facility: Academic Medical Center, Emma Children's Hospital
city: London
country: United Kingdom
facility: Great Ormond Street Hospital NHS Foundation Trust
Study officials:
References: