Genotype - Phenotype Correlations of LINCL

In a separate protocol the Department of Genetic Medicine is proposing to carry out a study using gene transfer to treat the central nervous system (CNS) manifestations of late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal, rare, recessive disorder of the (CNS) in children. In the context that there is little known about the genotype - phenotype correlations of LINCL, and that our referral far exceed the number (n=11) of children that will be entered into the gene transfer protocol, we are proposing to capitalize on this unique opportunity to evaluate this disorder in this separate study. In this context, the aim of this protocol is to study the genotype - phenotype correlations of the CNS manifestations of late infantile neuronal ceroid lipofuscinosis. This will be accomplished by comparing the genotype to a neurologic assessment, and LINCL clinical rating scale; magnetic resonance imaging (MRI) and magnetic resonance spectroscopic (MRS) assessments of the CNS; and routine clinical evaluations.

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Key information

Conditions

Batten Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Late-Infantile Neuronal Ceroid Lipfuscinosis Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Neurodegenerative Diseases Neuronal Ceroid-Lipofuscinoses Nutritional and Metabolic Diseases

Age range

2 year–18 year

Sex eligibility

All sexes

Study type

Observational

About this study

This proposed clinical protocol is designed to assess genotype - phenotype correlations of LINCL, including a preliminary assessment regarding the genotype - phenotype correlations of progressive CNS deterioration inherent to this disorder. The trial will include the primary endpoint of neurological assessment including the LINCL clinical rating scale and parental evaluations; and the secondary endpoint of magnetic resonance imaging (MRI) and magnetic resonance spectroscopic (MRS) assessments of the CNS.

The study will be carried out in children diagnosed with LINCL in all stages. The staging is based on a modification of the scale of Steinfeld et al (Steinfeld, 2002). The study anticipates a total n=30 children assessed over a period of 18 months. Of these, we anticipate that approximately two-thirds will not be entered into the proposed gene therapy protocol and thus approximately n=20 will be available for this study to be reassessed at 1 year. Thus, we anticipate that we will be able to capture a one-time genotype - phenotype snapshot for all n=30, and a 1 year genotype - phenotype progression assessment for n=20.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

A definitive diagnosis of late infantile neuronal ceroid lipofuscinosis
Between the age of 2 and 18 years
Not previously participated in a gene transfer study for LINCL.
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.
Both parents or legal guardians must give consent for their child's participation in the research study.

Exclusion criteria

Individuals with heart disease that would be a risk for anesthesia.
Concurrent participation in any other FDA approved Investigational New Drug clinical protocol is not allowed, although the Principal Investigator will work with other doctors to accommodate specific requests (e.g., a study of nutritional supplements probably would not be a disqualification).
Individuals who have a contraindication to MRI/MRS assessment including: (1) heart pacemaker and/or related implants; (2) metal fragment/chip in the eye or other sites; (3) an aneurysm clip in their brain; and (4) metallic inner ear implants.

Treatment and study plan

Primary outcomes

Correlation analysis between genotype (genetic constitution) and baseline

Time frame: 18 months

Secondary outcomes

Correlation analysis between genotype and rate of CNS decline

Time frame: 18 months

Sponsors and collaborators

Lead sponsor

Weill Medical College of Cornell University

Other

Collaborators

Nathan's Battle Foundation

Registry information

Official study title

Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis

Important dates

Study start: 2004
Primary completion: 2009
Study completion: 2009
First posted: Sep 8, 2005
Registry last updated: Jul 29, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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