Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
Completed
Conditions studied: Batten Disease, Late Infantile Neuronal Ceroid Lipofuscinosis
In brief
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.
Key facts
- Study ID
- NCT01035424
- Run by
- Weill Medical College of Cornell University
- People needed
- 48
- Starts
- 2009-06-01
- Expected to finish
- 2016-01-01
- Last updated by the study team
- 2020-07-29
Who can join
Age: 2 and older, up to 18. Sex: any. Healthy volunteers: not accepted.
Where it is running
- Weill Cornell Medicine — New York, New York, United States
Full record on ClinicalTrials.gov
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