Natural History Study of Patients With MPS IIIA

• Register: ClinicalTrials.gov
• Last refreshed on: 13 September 2021
• Main ID: NCT02746341
• Date of registration: 15/04/2016
• Prospective Registration: No
• Primary sponsor: LYSOGENE
• Public title: Natural History Study of Patients With MPS IIIA
• Scientific title: An Observational, Prospective, Multi-center, Natural History Study of Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)
• Date of first enrolment: April 2016
• Target sample size: 23
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT02746341
• Study type: Observational

Countries of recruitment

Brazil, France, Germany, Netherlands, United Kingdom

Key inclusion & exclusion 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.



Age minimum: N/A
Age maximum: 9 Years
Gender: All

Health Condition(s) or Problem(s) studied

Mucopolysaccharidosis IIIA

Primary Outcome(s)

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

Secondary Outcome(s)

Change from baseline in total cortical grey matter volume [Time Frame: Baseline, 12 months, 24 months]

Sleep disturbances measured by Actigraphy [Time Frame: Baseline and every 3 months up to 24 months]

Change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior scale [Time Frame: Baseline and every 6 months up to 24 months]

Patient Quality of Life Questionnaires [Time Frame: Baseline and every 6 months up to 24 months]

Secondary ID(s)

P3-LYS-SAF

Source(s) of Monetary Support

Please refer to primary and secondary sponsors