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Krabbe Disease Global Patient Registry

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ClinicalTrials.gov Identifier: NCT02993796
Recruitment Status : Recruiting
First Posted : December 15, 2016
Last Update Posted : August 29, 2017
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
National Center for Advancing Translational Science (NCATS)
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Lysosomal Disease Network
Hunter's Hope Foundation
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
State University of New York at Buffalo

December 6, 2016
December 15, 2016
August 29, 2017
September 2014
July 2019   (Final data collection date for primary outcome measure)
Overall Survival [ Time Frame: up to 5 years ]
The longevity of participants will be recorded using their date of death, or conclusion of this study, whichever occurs first.
Same as current
Complete list of historical versions of study NCT02993796 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Krabbe Disease Global Patient Registry
The Hunter James Kelly Research Institute's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry
The purpose of this study is to develop a clinical database of individuals diagnosed with Krabbe disease in order to determine which symptoms herald the onset of clinical disease in the various phenotypes of Krabbe disease; to determine whether level of GALC enzyme activity, or a specific genetic mutation predict the clinical course; and to determine which neurodiagnostic tests predict onset and/or severity of the disease.

The purported incidence of Krabbe disease is 1/250,000 live births. It is believed that 80-90% of affected children will have the early-infantile form of the disease. Other forms of the disease, however, occur throughout life. Unfortunately neither enzyme activity levels nor specific genetic mutation reliably predict phenotype. Since the only treatment for Krabbe disease is bone marrow transplantation, it is crucial to be able to identify prognostic factors, which will accurately predict the disease course. At this time the medical literature is limited regarding the clinical signs and symptoms of the later-onset forms of Krabbe disease, as well as their age of onset, and survival of these individuals.

Early-infantile Krabbe disease has a uniformly fatal outcome if untreated, and later-onset forms remain at-risk for developing symptoms. The only available treatment, pooled cord-blood transplantation, has a 10-20% mortality rate.

The vast majority of children who screen positively for Krabbe disease during newborn screening have an uncertain prognosis. No single diagnostic test available currently can accurately predict the onset of symptoms. Consequently, improved phenotypic understanding will enhance the diagnostic paradigm for Krabbe disease, and will facilitate more timely diagnosis and treatment.

The information collected in the registry will be used to improve accuracy of diagnosis, and to prevent children who are not destined to develop Krabbe from being subjected unnecessarily to treatment.

The hypotheses to be tested include:

  • a detailed database will broaden phenotypic understanding of Krabbe disease;
  • new therapies will result from better phenotypic understanding of this disorder.

A questionnaire will be collected at time of enrollment with information pertaining to an individual affected by Krabbe disease. Clinical information to be collected will include: age at onset of symptoms; type of symptoms; age at diagnosis; level of GALC enzyme activity; identification of the specific genetic mutation; results of any available brain MRI imaging evaluations; results of any available spinal fluid protein analyses; results of any available brainstem auditory evoked response evaluations; results of any available visual evoked response evaluations; and results of any available nerve-conduction-velocity studies. If possible, CD-ROMs containing the imaging data and physician reports of brain MRI imaging evaluations will be obtained. Potential prognostic indicators based on molecular genetic results, GALC enzyme level, detected potential biomarkers, and neurodiagnostic testing will be analyzed. Information on the status of participant's general health, disease progression, impact of the disease, neurologic symptoms, and developmental milestones will be collected through follow-up phone calls with parents or caregivers.

After de-identification, the data will be entered into the Krabbe clinical database at the University at Buffalo's Center of Excellence in Bioinformatics, and/or the Population Health Observatory on the South Campus, and/or the Longitudinal Pediatric Data Resource, a tool provided by the Newborn Screening Translational Research Network.

Observational [Patient Registry]
Observational Model: Cohort
Time Perspective: Prospective
5 Years
Not Provided
Non-Probability Sample

This study seeks enrollment by anyone of any age or gender who has been diagnosed with Krabbe disease, and also:

  • Anyone at-risk for Krabbe disease
  • Family members of someone diagnosed with, or at-risk for, Krabbe disease. This may consist of adults unable to consent; individuals who are not yet adults; and pregnant women.
Krabbe Disease
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
60
Same as current
August 2019
July 2019   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Anyone diagnosed with Krabbe disease
  • Anyone at-risk for Krabbe disease
  • Family members of someone diagnosed with, or at-risk for, Krabbe disease.

Exclusion Criteria:

  • Anyone who is not diagnosed with, or at-risk for, Krabbe disease
  • Anyone who is not a family member of someone diagnosed with, or at-risk for, Krabbe disease
Sexes Eligible for Study: All
Child, Adult, Older Adult
No
Contact: Thomas J. Langan, MD 716-888-4732 tjlangan@buffalo.edu
Contact: Amy Barczykowski 716-829-6101 alp38@buffalo.edu
United States
 
 
NCT02993796
RDCRN6726
U54NS065768 ( U.S. NIH Grant/Contract )
R-21 HD087818-01 ( Other Grant/Funding Number: Eunice Kennedy Shriver National Institute of Child Health and Human Development )
Yes
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Plan to Share IPD: Yes
Plan Description: De-identified individual data is input to the NIH-funded Rare Diseases Clinical Research Network's Data Management & Coordinating Center ("DMCC"). Eventually this data will become part of the database of Genotypes and Phenotypes ("dbGaP"), which is part of the National Center for Biotechnology Information, U.S. National Library of Medicine.
State University of New York at Buffalo
State University of New York at Buffalo
  • Rare Diseases Clinical Research Network
  • National Center for Advancing Translational Science (NCATS)
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  • Lysosomal Disease Network
  • Hunter's Hope Foundation
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Principal Investigator: Thomas J. Langan, MD Clinical Director, Hunter James Kelly Research Institute; Associate Professor of Neurology, Pediatrics, and Physiology and Biophysics, Jacobs School of Medicine and Biomedical Sciences, SUNY at Buffalo
State University of New York at Buffalo
August 2017