Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis (NCT01035424) | Clinical Trial Compass
CompletedNot Applicable
Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
United States48 participantsStarted 2009-06
Plain-language summary
The primary aim of the study is to assess the genotype - phenotype correlations of the CNS manifestations of late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal, rare, recessive disorder of the CNS in children. This study will be accomplished by comparing the genotype to a neurologic assessment and Weill Cornell LINCL scale, the UBDRS scale, the standardized CHQ quality of life scale, and the Mullen scale; magnetic resonance imaging (MRI); and routine clinical evaluations. This study is designed to run parallel to a separate study which is being done by the Department of Genetic Medicine, which will use gene transfer to treat the central nervous system (CNS) manifestations of late infantile neuronal ceroid lipofuscinosis.
Who can participate
Age range2 Years – 18 Years
SexALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
✓. Definitive diagnosis of LINCL, based on clinical phenotype and genotype.
✓. The subject must be between the age of 2 and 18 years.
✓. The subject will not previously have participated in a gene transfer or stem cell study.
✓. 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, and both parents or legal guardians must give consent for their child's participation.
Exclusion criteria
✕. Presence of other significant medical or neurological conditions may disqualify the subject from participation in this study e.g.,malignancy, congenital heart disease, liver or renal failure.
✕. Subjects without adequate control of seizures.
✕. Subjects with heart disease that would be a risk for anesthesia or a history of major risk factors for hemorrhage.
✕. Subjects who cannot participate in MRI studies.
What they're measuring
1
Change in Weill-Cornell LINCL scale at 18 months
Timeframe: Day 0, 18 months
2
Change in MRI parameters at 18 months
Timeframe: Day 0, 18 months
Trial details
NCT IDNCT01035424
SponsorWeill Medical College of Cornell University