Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids

• Status: Completed
• Trial end date: 2010-06-01
• Target enrollment: 0
• Participant gender: All

Summary

Usual dietary therapies of mitochondrial fatty acid oxidation disorders (FAO) are based on 3 strategies:

• limitation of lipid intake in the diet;

• supplementation of the diet with medium-chain triglycerides (MCT) for patients affected with disorders of long-chain FAO;

• some specific supplementations (for example, L-carnitine).

These strategies are often ineffective. The aim of the present study is to evaluate new therapeutic ways based on the underlying energetic defect observed in these disorders. The long-term goal is to develop efficient therapies of these disorders.

• Phase: N/A
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Criteria

Inclusion Criteria:

• Patient with an enzyme deficiency of carnitine palmitoyltransferase 1 (CPT1), carnitine-acylcarnitine translocase (CAT), carnitine palmitoyltransferase 2 (CPT2), very-long chain acyl-CoA dehydrogenase (VLCAD), L-3-hydroxy-acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (MTP).

• Covered by health and social insurance

• Written informed consent

Exclusion Criteria:

• Patient affected with FAO dysfunction secondary to other cause (e.g. mitochondrial respiratory chain disorders)

• Patient with suspected FAO disorder that has not been proven (by enzymatic or molecular test)