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Study Description

Late infantile ceroid lipofuscinosis (LINCL) is a rare, rapidly progressing lysosomal storage disease resulting from mutations in the CLN2 gene that lead to deficiency in the lysosomal protease tripeptidyl peptidase I (TPP-I). The symptoms are largely neurological with onset at 2-4 years age with progression to death at age 8-12 yrs. The rareness of the disease and the likelihood of non-uniform progression depending on genotype together limit the data available regarding the natural history of disease progression. Current neurological rating scales are used to give an overall quantitative description of the disease but the categories are generally broad and imprecise.

With that background, the primary focus of this study is to use clinical rating scales and magnetic resonance imaging methods to define the natural history of LINCL and to provide objective and sensitive surrogates for neurological status and the impact of experimental treatments in children with LINCL. Together these parameters will be applicable to future clinical studies of novel therapies for LINCL and should be transferrable to other neurological lysosomal storage diseases. Subjects will be assessed at 2 visits separated by ≥1 yr. Brain morphometry, water self-diffusion coefficients and spectroscopic data will be obtained via magnetic resonance. Resulting MRI biomarkers will be compared with neurological assessment of disease severity using the Weill-Cornell LINCL rating scale.

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Study Inclusion/Exclusion Criteria

Inclusion Criteria.

  1. Definitive diagnosis of LINCL, based on clinical phenotype and genotype.
  2. The subject must be between the age of 2 and 18 years.
  3. The subject will not previously have participated in a gene transfer or stem cell study.
  4. 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.

  1. 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.
  2. Subjects without adequate control of seizures.
  3. Subjects with heart disease that would be a risk for anesthesia or a history of major risk factors for hemorrhage.
  4. Subjects who cannot participate in MRI studies.
  5. Concurrent participation in any other FDA approved Investigational New Drug.
  6. Subjects with history of prolonged bleeding or abnormal platelet function or taking aspirin.

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