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Natural History Study of Patients With MPS IIIA

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02746341
Recruitment Status : Completed
First Posted : April 21, 2016
Last Update Posted : August 31, 2021
Information provided by (Responsible Party):

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.

Condition or disease
Mucopolysaccharidosis IIIA

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.

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Study Type : Observational
Actual Enrollment : 23 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: An Observational, Prospective, Multi-center, Natural History Study of Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)
Study Start Date : April 2016
Actual Primary Completion Date : May 2019
Actual Study Completion Date : May 2019

Primary Outcome Measures :
  1. 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 Measures :
  1. 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 ]
  2. Sleep disturbances measured by Actigraphy [ Time Frame: Baseline and every 3 months up to 24 months ]
  3. Patient Quality of Life Questionnaires [ Time Frame: Baseline and every 6 months up to 24 months ]
  4. Change from baseline in total cortical grey matter volume [ Time Frame: Baseline, 12 months, 24 months ]

Biospecimen Retention:   Samples With DNA
Cerebral Spinal Fluid

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 9 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects diagnosed with MPS IIIA

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02746341

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Hospital de Clinicas de Porto Alegre
Porto Alegre, Brazil, 90035-003
Armand Trousseau Public Hospital
Paris, France
University Medical Center Hamburg-Eppendorf
Hamburg, Germany
Academic Medical Center, Emma Children's Hospital
Amsterdam, Netherlands
United Kingdom
Great Ormond Street Hospital NHS Foundation Trust
London, United Kingdom
Sponsors and Collaborators
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Responsible Party: LYSOGENE Identifier: NCT02746341    
Other Study ID Numbers: P3-LYS-SAF
First Posted: April 21, 2016    Key Record Dates
Last Update Posted: August 31, 2021
Last Verified: August 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Additional relevant MeSH terms:
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Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases