Yükleniyor... / Loading...
This study examines the relationship between genetic makeup (genotype) and disease features (phenotype) in children with late infantile neuronal ceroid lipofuscinosis (LINCL). It enrolled children aged 2 to 18 with a definitive LINCL diagnosis who had not previously taken part in a gene transfer study for this disease. The research was conducted as an observational study with no assigned phase and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
Inclusion Criteria: * A definitive diagnosis of late infantile neuronal ceroid lipofuscinosis * Between the age of 2 and 18 years * Not previously participated in a gene transfer study for LINCL. * Parents of study participants must agree to comply in good faith with the conditions of the study, including attending all of the required baseline and follow-up assessments. * Both parents or legal guardians must give consent for their child's participation in the research study. Exclusion Criteria: * Individuals with heart disease that would be a risk for anesthesia. * Concurrent participation in any other FDA approved Investigational New Drug clinical protocol is not allowed, although the Principal Investigator will work with other doctors to accommodate specific requests (e.g., a study of nutritional supplements probably would not be a disqualification). * Individuals who have a contraindication to MRI/MRS assessment including: (1) heart pacemaker and/or related implants; (2) metal fragment/chip in the eye or other sites; (3) an aneurysm clip in their brain; and (4) metallic inner ear implants.