Status:
COMPLETED
Metabolic Consequences of CPT-1 Deficiency
Lead Sponsor:
Oregon Health and Science University
Collaborating Sponsors:
Alaska Department of Health and Social Services
Conditions:
Carnitine Palmitoyl Transferase Type 1A (CPT1A) Deficiency
Eligibility:
All Genders
3-5 years
Phase:
NA
Brief Summary
The purpose of this study is to learn more about how long children with CPT-1 deficiency can wait between meals without developing low blood sugar or symptoms of low blood sugar. The other purpose is ...
Detailed Description
With the advent of enhanced screening (via tandem mass spectroscopy, MS/MS), the Northwest Regional Newborn Screening Program (NWRNSP) has identified a high incidence of carnitine palmitoyl transferas...
Eligibility Criteria
Inclusion
- CPT-1 deficiency
- homozygous for the c.1436C-T sequence variant
- greater than 6 kg
- otherwise healthy
- siblings must be free of CPT-1 deficiency but heterozygous for c.1436C-T sequence variant and otherwise healthy
Exclusion
- liver dysfunction
- diabetes
- renal disease
- metal plate in body
Key Trial Info
Start Date :
October 1 2007
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
February 1 2009
Estimated Enrollment :
12 Patients enrolled
Trial Details
Trial ID
NCT00653666
Start Date
October 1 2007
End Date
February 1 2009
Last Update
February 25 2010
Active Locations (1)
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1
Oregon Health & Science University
Portland, Oregon, United States, 97239