Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administratio… (NCT02060526) | Clinical Trial Compass
CompletedPhase 2
Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
United States, Argentina, France21 participantsStarted 2014-02-26
Plain-language summary
Sanfilippo syndrome Type A, or Mucopolysaccharidosis (MPS) IIIA, is a rare lysosomal storage disease caused by deficiency of the enzyme heparan N-sulfatase (sulfamidase). In the absence of this enzyme, there is an accumulation of the glycosaminoglycan, heparan sulfate, resulting in progressive neurodegeneration. Symptoms are usually first noted in the 1st or 2nd year of life, although definitive diagnosis is often delayed, with an average age of diagnosis of 4.5 years. The disease is characterized by developmental delays initially, followed by neurological developmental arrest, then regression. These developmental deficits are typically associated with severe behavioral disturbances. Patients have a significantly reduced lifespan, with few surviving beyond the 2nd or 3rd decade.
The purpose of this study is to evaluate the safety and efficacy of recombinant human heparan-N-sulfatase (rhHNS) in pediatric patients with Early Stage Mucopolysaccharidosis Type III A Disease.
Who can participate
Age range12 Months – 48 Months
SexALL
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Inclusion criteria
✓. Documented MPS IIIA diagnosis
✓. Age ≥12 months and ≤48 months
✓. The patient has a DQ score ≥60%
✓. The patient is medically stable, in the opinion of the Investigator, and able to accommodate the protocol requirements, including travel, assessments, and IDDD surgery, without placing an undue burden on the patient/patient's family
✓. The patient's parent(s) or legally authorized representative(s) must have voluntarily signed and dated an Independent Ethics Committee-approved informed consent form after all relevant aspects of the study have been explained and discussed with the patient's parent(s), or legally authorized representative(s). Consent of the patient's parent(s) or legally authorized representative(s) must be obtained prior to the start of any study procedures.
Exclusion criteria
✕. The presence of significant non-MPS IIIA related CNS impairment or behavioral disturbances that would confound the scientific integrity or interpretation of study assessments, as determined by the Investigator.
✕. The presence of at least one S298P mutation in SGSH, associated with attenuated disease OR there is documentation of the S298P mutation in a sibling affected by MPS IIIA, provided parental consent is obtained to use this information.
What they're measuring
1
Number of Participants With Overall Response Using Bayley Scales of Infant Development Assessment Third Edition (BSID-III)
✕. The presence of relatively attenuated MPS IIIA disease in an older sibling, defined as preservation of any speech beyond the age of 10 years.
✕. Visual or hearing impairment sufficient, in the clinical judgment of the investigator, to preclude cooperation with neurodevelopmental testing. Use of hearing aids is permitted.
✕. In the opinion of the Investigator, the patient is assessed as having an unacceptably high risk for anesthesia due to airway compromise, drug hypersensitivity, or other conditions (such as neuroleptic malignant syndrome, malignant hyperthermia, or other anesthesia-related concerns).
✕. The patient has a history of poorly controlled seizure disorder.
✕. The patient is currently receiving psychotropic or other medications, which in the Investigator's opinion would be likely to substantially confound test results.
✕. The patient has a history of bleeding disorder or is unable to abstain from medications that, in the opinion of the investigator, place them at risk of bleeding following surgery or LP.