Mucopolysaccharidosis IIIA Clinical Trial
Official title:
An Observational, Prospective, Multi-center, Natural History Study of Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA)
| NCT number | NCT02746341 |
| Other study ID # | P3-LYS-SAF |
| Secondary ID | |
| Status | Completed |
| Phase | |
| First received | |
| Last updated | |
| Start date | April 2016 |
| Est. completion date | May 2019 |
| Verified date | August 2021 |
| Source | LYSOGENE |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | |
| Study type | Observational |
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.
| Status | Completed |
| Enrollment | 23 |
| Est. completion date | May 2019 |
| Est. primary completion date | May 2019 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | N/A to 9 Years |
| Eligibility | 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. |
| Country | Name | City | State |
|---|---|---|---|
| Brazil | Hospital de Clinicas de Porto Alegre | Porto Alegre | |
| France | Armand Trousseau Public Hospital | Paris | |
| Germany | University Medical Center Hamburg-Eppendorf | Hamburg | |
| Netherlands | Academic Medical Center, Emma Children's Hospital | Amsterdam | |
| United Kingdom | Great Ormond Street Hospital NHS Foundation Trust | London |
| Lead Sponsor | Collaborator |
|---|---|
| LYSOGENE |
Brazil, France, Germany, Netherlands, United Kingdom,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | The change from baseline in cognitive function using the Bayley scales of infant and toddler development third edition | Baseline, and every 6 months, for up to 24 months | ||
| Secondary | Change from baseline in the adaptive behavior composite standard score as measured by the Vineland Adaptive Behavior scale | Baseline and every 6 months up to 24 months | ||
| Secondary | Sleep disturbances measured by Actigraphy | Baseline and every 3 months up to 24 months | ||
| Secondary | Patient Quality of Life Questionnaires | Baseline and every 6 months up to 24 months | ||
| Secondary | Change from baseline in total cortical grey matter volume | Baseline, 12 months, 24 months |