Trial record 9 of 15 for:    "Kuf's disease" OR "Neuronal Ceroid-Lipofuscinoses"

Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2013 by Weill Medical College of Cornell University
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
Information provided by (Responsible Party):
Weill Medical College of Cornell University
ClinicalTrials.gov Identifier:
NCT01035424
First received: December 16, 2009
Last updated: September 5, 2013
Last verified: September 2013
  Purpose

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.


Condition
Batten Disease
Late Infantile Neuronal Lipofuscinosis

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis

Resource links provided by NLM:


Further study details as provided by Weill Medical College of Cornell University:

Primary Outcome Measures:
  • Direct CNS Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human CLN2 cDNA to Children with Late Infantile Neuronal Ceroid Lipofuscinosis [ Time Frame: The patient will be monitored in intervals within 18 months after the gene has been injected. ] [ Designated as safety issue: Yes ]
    The purpose of this Phase I study is to test the safety of AAVrh.10CUhCLN2 and see what effects (good and bad) it has as it relates to your child's condition and if it is a safe and effective treatment for Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL).


Biospecimen Retention:   Samples With DNA

whole blood, serum


Estimated Enrollment: 32
Study Start Date: March 2010
Estimated Study Completion Date: April 2017
Estimated Primary Completion Date: April 2015 (Final data collection date for primary outcome measure)
Detailed Description:

This protocol is designed to study the natural disease process of LINCL. We propose to assess the correlation between genotype (genetic constitution) and phenotype (observable characteristics) of late infantile neuronal ceroid lipofuscinosis (LINCL) in children diagnosed with LINCL in all stages. LINCL is a form of Batten disease that affects the brain of children and prevents it from functioning properly. These children are born with genetic changes called mutations that result in the inability of the brain to properly recycle proteins in the brain. The recycling failure leads to death of the nerve cells in the brain and progressive loss of brain function. Children with Batten disease are normal at birth but by age 2 to 4 have motor and vision problems which progress rapidly to death at age approximately 10 years old. There are no therapies available to treat the disease. This study is designed to run parallel to the gene transfer protocol, which will include 16 individuals in two groups: Group A will receive 9.0x10^11 genome copies (gc) of the vector and Group B will receive 2.85x10^11 gc; we anticipate that we will be able to capture a one-time genotype - phenotype snapshot for all n=32, and an 18 months genotype - phenotype progression assessment for n=16.

  Eligibility

Ages Eligible for Study:   2 Years to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

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

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01035424

Contacts
Contact: Charleen Hollmann, PhD, MPA, RN 646-962-2672 chollmann@med.cornell.edu
Contact: Denesy Mancenido, BA 646-962-4537 dem2026@med.cornell.edu

Locations
United States, New York
Weill Cornell Medical College- New York Presbyterian Hospital Recruiting
New York, New York, United States, 10065
Sponsors and Collaborators
Weill Medical College of Cornell University
Rare Diseases Clinical Research Network
Investigators
Principal Investigator: Ronald G. Crystal, MD Weill Medical College of Cornell University
Principal Investigator: Douglas Ballon, PhD Weill Medical College of Cornell University
  More Information

Additional Information:
No publications provided

Responsible Party: Weill Medical College of Cornell University
ClinicalTrials.gov Identifier: NCT01035424     History of Changes
Other Study ID Numbers: 0901010186, U54NS065768
Study First Received: December 16, 2009
Last Updated: September 5, 2013
Health Authority: United States: Institutional Review Board

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

ClinicalTrials.gov processed this record on September 16, 2014