Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
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ClinicalTrials.gov Identifier: NCT01035424 |
Recruitment Status
:
Active, not recruiting
First Posted
: December 18, 2009
Last Update Posted
: December 14, 2017
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Condition or disease |
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Batten Disease Late Infantile Neuronal Ceroid Lipofuscinosis |
Study Type : | Observational |
Estimated Enrollment : | 75 participants |
Observational Model: | Case-Only |
Time Perspective: | Prospective |
Official Title: | Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis |
Study Start Date : | March 2010 |
Estimated Primary Completion Date : | April 2020 |
Estimated Study Completion Date : | April 2025 |

- Change in Weill-Cornell LINCL scale at 18 months [ Time Frame: Day 0, 18 months ]The Weill Cornell LINCL scale, a 12 point scale which combines assessment of feeding, gait, motor and language to give an overall assessment of various CNS functions
- Change in MRI parameters at 18 months [ Time Frame: Day 0, 18 months ]MRI assessment at various intervals Day 0 and month 18. Based on previous analyses, we have determined that 3 imaging parameters (% grey matter volume, % ventricular volume and cortical apparent diffusion coefficient) correlate best with age and with the Weill Cornell LINCL scale. These 3 imaging parameters will be used to assess disease progression in this screening protocol and the effect of the gene transfer in the IRB approved gene transfer trials (IRB #0810010013 and #1005011054). For those children available to continue in the study, all parameters will be re-assessed by comparing baseline evaluations to month 18 evaluation.
- Change in CHQ or ITQoL [ Time Frame: Day 0, 18 months ]Quality of life questionnaires which will be completed by at least one parent/legal guardian at the time of the LINCL patients' visits to Weill Cornell16,17; we will administer either survey depending on the age of the subject independently to each parent to minimize observer bias if both parents are present.
- Change in Mullen Scale [ Time Frame: Day 0, 18 months ]A pediatric developmental psychological rating scale
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | 2 Years to 18 Years (Child, Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
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.
- Concurrent participation in any other FDA approved Investigational New Drug.
- Subjects with history of prolonged bleeding or abnormal platelet function or taking aspirin.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01035424
United States, New York | |
Weill Cornell Medical College- New York Presbyterian Hospital | |
New York, New York, United States, 10065 |
Study Director: | Ronald G. Crystal, MD | Weill Medical College of Cornell University | |
Principal Investigator: | Douglas Ballon, PhD | Weill Medical College of Cornell University |
Additional Information:
Responsible Party: | Weill Medical College of Cornell University |
ClinicalTrials.gov Identifier: | NCT01035424 History of Changes |
Other Study ID Numbers: |
0901010186 U54NS065768 ( U.S. NIH Grant/Contract ) R01NS061848 ( U.S. NIH Grant/Contract ) 5R01NS061848-04 ( U.S. NIH Grant/Contract ) LDN 6716 ( Other Identifier: RDCRN ) |
First Posted: | December 18, 2009 Key Record Dates |
Last Update Posted: | December 14, 2017 |
Last Verified: | December 2017 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Keywords provided by Weill Medical College of Cornell University:
Batten Disease Late Infantile Neuronal Lipofuscinosis LINCL |
Additional relevant MeSH terms:
Neuronal Ceroid-Lipofuscinoses Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Nervous System Diseases Genetic Diseases, Inborn |
Lipidoses Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Lipid Metabolism Disorders Metabolic Diseases |