The Natural History of Infantile Globoid Cell Leukodystrophy

Completed

Conditions studied: Infantile Globoid Cell Leukodystrophy

In brief

The purpose of this natural history study is to understand more about the progression of infantile Krabbe disease, a very rare genetic disease. There is very little published longitudinal data with only anecdotal cases. This natural history study will be important in understanding the effect of future therapies that are presently in the preclinical phase.

Key facts

Study ID

NCT00983879

Run by

Zymenex A/S

People needed

6

Starts

2009-09-01

Expected to finish

2014-07-01

Last updated by the study team

2018-03-08

Who can join

Age: any, up to 2. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Informed consent obtained before any study-related activities. (Study-related activities are any procedure that would not have been performed during normal management of the subject)
• The patient must have a documented diagnosis of infantile globoid cell leukodystrophy with galactocerebroside ß-galactosidase (GALC) activity < 0.50 nmol/h/mg protein and evidence of two pathogenic mutations in the GALC gene must be confirmed after the baseline visit
• The patient must have an age at the time of screening < 2 years
• The patient's parent(s) and/or legal guardian must have the ability to comply with the clinical protocol

You may not qualify if…

• History of hematopoietic stem cell transplantation
• Presence of known clinically significant cardiovascular, hepatic, pulmonary or renal disease or other medical condition
• Presence of major congenital abnormality
• Any other medical condition or serious intercurrent illness, or extenuating circumstance that, in the opinion of the principal investigator, would preclude participation in the study
• Use of any investigational product within 30 days prior to study enrollment or currently enrolled in another study which involves clinical investigations
• The patient's parent(s) and/or legal guardian is unable to understand the nature, scope, and possible consequences of the study
• Patient is unable to comply with the protocol, i.e. inability to return for follow-up evaluations or otherwise unlikely to complete the study as determined by the principal investigator

Where it is running

• Children's Hospital of Pittsburgh, 4401 One Children's Hospital Drive,4401 Penn Avenue — Pittsburgh, Pennsylvania, United States

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.