Clinical Trial: Krabbe Disease Global Patient Registry

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

Official Title: The Hunter James Kelly Research Institute's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry

Brief Summary: 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.

Detailed Summary:

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;

  • Sponsor: State University of New York at Buffalo

    Current Primary Outcome: 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.


    Original Primary Outcome: Same as current

    Current Secondary Outcome:

    Original Secondary Outcome:

    Information By: State University of New York at Buffalo

    Dates:
    Date Received: December 6, 2016
    Date Started: September 2014
    Date Completion: August 2019
    Last Updated: December 13, 2016
    Last Verified: December 2016