Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis

NCT01035424 | Completed

• 5 other identifiers: 0901010186U54NS065768R01NS0618485R01NS061848-04LDN 6716
• Study Type: observational
• Target: 48
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Batten Disease; Late Infantile Neuronal Ceroid Lipofuscinosis

Keywords

Batten Disease; Late Infantile Neuronal Lipofuscinosis; LINCL

Outcome Measures

Primary Outcomes (2)

• Change in Weill-Cornell LINCL scale at 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

  Day 0, 18 months

• Change in MRI parameters at 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.

  Day 0, 18 months

Secondary Outcomes (2)

• Change in CHQ or ITQoL

  Day 0, 18 months

• Change in Mullen Scale

  Day 0, 18 months

Eligibility Criteria

• Age: 2 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

The study will be carried out in children diagnosed with LINCL in all stages.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Weill Medical College of Cornell University: lead
• Rare Diseases Clinical Research Network: collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• National Institutes of Health (NIH): collaborator

Study Sites (1)

Weill Cornell Medicine

New York, New York, 10065, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

whole blood, serum

MeSH Terms

Conditions

Neuronal Ceroid-Lipofuscinoses

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Ronald G. Crystal, MD

  Weill Medical College of Cornell University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 16, 2009
• First Posted: December 18, 2009
• Study Start: June 1, 2009
• Primary Completion: January 1, 2016
• Study Completion: January 1, 2016
• Last Updated: July 29, 2020

Record last verified: 2020-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)