Genotype - Phenotype Correlations of LINCL

Batten Disease Clinical Trial

Official title:

Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00151268
• Other study ID #: 0401007011
• Status: Completed
• Phase: N/A
• First received: September 6, 2005
• Last updated: July 28, 2016
• Start date: March 2004
• Est. completion date: September 2009

Study information

• Verified date: July 2016
• Source: Weill Medical College of Cornell University
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review BoardUnited States: Data and Safety Monitoring Board
• Study type: Observational

Clinical Trial Summary

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.

Description:

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 18
• Est. completion date: September 2009
• Est. primary completion date: September 2009
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 2 Years to 18 Years

Eligibility

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.

Study Design

Time Perspective: Prospective

Related Conditions & MeSH terms

• Batten Disease
• Late-Infantile Neuronal Ceroid Lipfuscinosis
• Neuronal Ceroid-Lipofuscinoses

Locations

Country	Name	City	State
n/a

Sponsors (2)

Lead Sponsor	Collaborator
Weill Medical College of Cornell University	Nathan's Battle Foundation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Correlation analysis between genotype (genetic constitution) and baseline		18 months	No
Secondary	Correlation analysis between genotype and rate of CNS decline		18 months	No