MPS IIIA Sanfilippo syndrome Type A
Conditions
Interventions
None listed
Sponsors
Shire Human Genetic Therapies
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1.The patient has a documented deficiency in HNS enzyme activity of *10% of the lower limit of the normal range as measured in fibroblasts or leukocytes (based on normal range for diagnosis of MPS IIIA by a laboratory that is acceptable to Shire HGT). AND 2.The patient has a normal enzyme activity level of at least one other sulfatase (to rule out multiple sulfatase deficiency) as measured in fibroblasts or leukocytes (based on normal range by a laboratory that is acceptable to Shire HGT). 3. The patient is * 3 years of age and has a developmental age above 1 year. 4. The patient is medically stable, in the opinion of the investigator, to accommodate the protocol requirements, including travel and assessments, without placing an undue burden on the patient/patient's family. 5. The patient*s parent(s) or legal guardian(s) has voluntarily signed an Institutional Review Board/Independent Ethics Committee-approved informed consent (assent if applicable) form after all relevant aspects of the study have been explained and discussed with the patient*s parent(s), or legal guardian(s). The patient's parents or legal guardian*s consent and patient*s assent as appropriate, must be obtained.
Exclusion criteria
Exclusion criteria: 1. The patient has significant non-MPS IIIA related CNS impairment or behavioral disturbances, which would confound the scientific integrity or interpretation of study assessments, as determined by the Investigator. 2. Patients who, for MPS IIIA behavioral-related reasons, in the opinion of the Investigator, would preclude performance of study neurocognitive and developmental testing procedures. 3. Patients who are pregnant, or female patients of childbearing potential, who will not or cannot comply with the use of an acceptable method of birth control such as condoms, barrier method, oral contraception, etc. 4. The patient is blind and/or deaf. 5. The patient has any known or suspected hypersensitivity to anesthesia or is thought to be at an unacceptably high risk for anesthesia due to airway compromise or other conditions. 6. The patient or the patient's family has a history of neuroleptic malignant syndrome, malignant hyperthermia, or other anesthesia-related concerns. 7. The patient has a history of complications from previous lumbar punctures or technical challenges in conducting lumbar punctures such that the Investigator does not recommend performing lumbar punctures. 8. The patient has a history of poorly controlled seizure disorder. 9.The patient has a history of an intracranial pressure (ICP) or opening CSF pressure upon lumbar puncture that exceeds the accepted normal limit of 30 cm H2O that has not been definitively treated. 10. The patient is currently receiving psychotropic or other medications, which in the Investigator*s opinion, would be likely to substantially confound test results. 11. The patient cannot sustain absence from aspirin, non-steroidals, or medications that affect blood clotting within 1 week prior to a relevant study related procedure (eg, lumbar puncture if applicable), or has ingested such medications within 1 week before any procedures in which any change in clotting activity would be deleterious. 12. The patient has received treatment with any investigational drug or a device intended as a treatment for MPS IIIA within the 30 days prior to, or during the study, or is currently enrolled in another study that involves an investigational drug or device (enrollment through Safety follow-up contact). 13. The patient has received a cord blood or bone marrow transplant. 14. The patient*s assent is unattainable, or the patient*s parent(s) or patient*s legal guardian(s) is/are unable to understand the nature, scope, and possible consequences of the study, or do/does not agree to comply with the protocol defined schedule of assessments.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary endpoints of this study are to evaluate the severity and progression of MPS IIIA on clinical and laboratory parameters, including: * Developmental age in general and acquisition/loss of specific developmental milestones * CNS function, including global and subsystem development for cognition, speech, and motor system functions * Determination of serum, urine, and CSF levels of heparan sulfate and its breakdown products | — |
Secondary
| Measure | Time frame |
|---|---|
| The secondary endpoints of this study are to: * Assess change from baseline in additional clinical parameters (eg, standardized neurocognitive and development assessments, neurologic function, Developmental Quotient [DQ], sleep, brain Magnetic Resonance Imaging [MRI] volumes, and Auditory Brainstem Response [ABR]) * Quantitate additional biomarkers of CNS health in CSF such as markers of neuronal and astrocyte cell integrity | — |
Countries
Netherlands
Outcome results
None listed