- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02993796
Krabbe Disease Global Patient Registry
The Institute for Myelin and Glia Exploration's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry
Study Overview
Status
Conditions
Detailed Description
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.
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Thomas J. Langan, MD
- Phone Number: 716-888-4732
- Email: tjlangan@buffalo.edu
Study Contact Backup
- Name: Amy Barczykowski
- Phone Number: 716-829-6101
- Email: alp38@buffalo.edu
Study Locations
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New York
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Buffalo, New York, United States, 14203
- Recruiting
- State University of New York at Buffalo
-
Contact:
- Thomas J. Langan, MD
- Phone Number: 716-888-4732
- Email: tjlangan@buffalo.edu
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
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.
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
up to 5 years
|
Collaborators and Investigators
Collaborators
Investigators
- Principal Investigator: Thomas J. Langan, MD, Clinical Director, Clinical Research, Institute for Myelin and Glial Exploration
Publications and helpful links
General Publications
- Carter RL, Wrabetz L, Jalal K, Orsini JJ, Barczykowski AL, Matern D, Langan TJ. Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically? J Neurosci Res. 2016 Nov;94(11):1084-93. doi: 10.1002/jnr.23793.
- Langan TJ, Barcykowski AL, Dare J, Pannullo EC, Muscarella L, Carter RL. Evidence for improved survival in postsymptomatic stem cell-transplanted patients with Krabbe's disease. J Neurosci Res. 2016 Nov;94(11):1189-94. doi: 10.1002/jnr.23787.
Helpful Links
- Hunter James Kelly Research Institute, University at Buffalo - home page
- Hunter's Hope Foundation, one of the funders of this research study - their home page
- Newborn Screening Translational Research Network - their home page
- Lysosomal Disease Network, one of the funders of this research study - their home page
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
- Rare Diseases Clinical Research Network, the funder of the Lysosomal Disease Network
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Demyelinating Diseases
- Genetic Diseases, Inborn
- Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Lipid Metabolism Disorders
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Sphingolipidoses
- Lysosomal Storage Diseases, Nervous System
- Lipidoses
- Lipid Metabolism, Inborn Errors
- Leukoencephalopathies
- Hereditary Central Nervous System Demyelinating Diseases
- Leukodystrophy, Globoid Cell
Other Study ID Numbers
- RDCRN6726
- 1R01HD104814-01A1 (U.S. NIH Grant/Contract)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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