Krabbe Disease Global Patient Registry
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| ClinicalTrials.gov Identifier: NCT02993796 |
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Recruitment Status :
Recruiting
First Posted : December 15, 2016
Last Update Posted : October 6, 2020
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| Condition or disease |
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| Krabbe 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.
| Study Type : | Observational [Patient Registry] |
| Estimated Enrollment : | 60 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Target Follow-Up Duration: | 5 Years |
| Official Title: | The Hunter James Kelly Research Institute's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry |
| Actual Study Start Date : | September 2014 |
| Estimated Primary Completion Date : | September 2024 |
| Estimated Study Completion Date : | September 2024 |
- 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.
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, Learn About Clinical Studies.
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | 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.
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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02993796
| Contact: Thomas J. Langan, MD | 716-888-4732 | tjlangan@buffalo.edu | |
| Contact: Amy Barczykowski | 716-829-6101 | alp38@buffalo.edu |
| United States, New York | |
| State University of New York at Buffalo | Recruiting |
| Buffalo, New York, United States, 14203 | |
| Contact: Thomas J. Langan, MD 716-888-4732 tjlangan@buffalo.edu | |
| 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 |
Publications:
| Responsible Party: | Thomas J. Langan, Principal Investigator, State University of New York at Buffalo |
| ClinicalTrials.gov Identifier: | NCT02993796 |
| Other Study ID Numbers: |
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 ) |
| First Posted: | December 15, 2016 Key Record Dates |
| Last Update Posted: | October 6, 2020 |
| Last Verified: | October 2020 |
| Individual Participant Data (IPD) Sharing Statement: | |
| 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. |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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Krabbe disease globoid cell leukodystrophy galactosylceramide lipidosis sphingolipidosis |
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Leukodystrophy, Globoid Cell Hereditary Central Nervous System Demyelinating Diseases Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Sphingolipidoses Lysosomal Storage Diseases, Nervous System |
Leukoencephalopathies Demyelinating Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders |