Krabbe Disease Global Patient Registry

July 25, 2023 updated by: Thomas J. Langan, State University of New York at Buffalo

The Institute for Myelin and Glia Exploration'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.

Study Overview

Status

Recruiting

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

Observational

Enrollment (Estimated)

60

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

    • New York
      • Buffalo, New York, United States, 14203
        • Recruiting
        • State University of New York at Buffalo
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

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

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Thomas J. Langan, MD, Clinical Director, Clinical Research, Institute for Myelin and Glial Exploration

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 1, 2014

Primary Completion (Estimated)

September 1, 2024

Study Completion (Estimated)

September 1, 2024

Study Registration Dates

First Submitted

December 6, 2016

First Submitted That Met QC Criteria

December 13, 2016

First Posted (Estimated)

December 15, 2016

Study Record Updates

Last Update Posted (Actual)

July 27, 2023

Last Update Submitted That Met QC Criteria

July 25, 2023

Last Verified

July 1, 2023

More Information

Terms related to this study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD 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.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

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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