Infantile Globoid Cell Leukodystrophy Clinical Trial
Official title:
A Longitudinal Observational Study That Will Evaluate Prospectively Clinical and Surrogate Parameters That Are Affected in Infant Patients With Globoid Cell Leukodystrophy
Verified date | March 2018 |
Source | Chiesi Farmaceutici S.p.A. |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 6 |
Est. completion date | July 2014 |
Est. primary completion date | July 2014 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A to 2 Years |
Eligibility |
Inclusion Criteria: - 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 Criteria: - 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 |
Country | Name | City | State |
---|---|---|---|
United States | Children's Hospital of Pittsburgh, 4401 One Children's Hospital Drive,4401 Penn Avenue | Pittsburgh | Pennsylvania |
Lead Sponsor | Collaborator |
---|---|
Zymenex A/S |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | This longitudinal observational study will collect information on patients diagnosed with infantile globoid cell leukodystrophy over approximately an 18-month period. | 18 month |