Status:
COMPLETED
The Natural History of Infantile Globoid Cell Leukodystrophy
Lead Sponsor:
Zymenex A/S
Conditions:
Infantile Globoid Cell Leukodystrophy
Eligibility:
All Genders
Up to 2 years
Brief Summary
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 on...
Detailed Description
Infantile globoid cell leukodystrophy (GLD, or Krabbe disease) is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid ...
Eligibility Criteria
Inclusion
- 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
Exclusion
- 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
Key Trial Info
Start Date :
September 1 2009
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
July 1 2014
Estimated Enrollment :
6 Patients enrolled
Trial Details
Trial ID
NCT00983879
Start Date
September 1 2009
End Date
July 1 2014
Last Update
March 8 2018
Active Locations (1)
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1
Children's Hospital of Pittsburgh, 4401 One Children's Hospital Drive,4401 Penn Avenue
Pittsburgh, Pennsylvania, United States, 15224