Triheptanoin Treatment Trial for Patients With Long-chain Fatty Acid Beta-oxidation Defects

• Status: Withdrawn
• Trial end date: 2011-10-01
• Target enrollment: 0
• Participant gender: All

Summary

The purpose of this study is to determine if administration Triheptanoin is an effective treatment for defects of the long-chain fatty acid beta-oxidation in young adults or adults. Period of treatment and follow-up will be 16 months.

• Phase: Phase 3
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Maria Luz Couce Pico
• Collaborator: Fundación Ramón Domínguez

Criteria

Inclusion Criteria:

All patients with any of the following conditions:

• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHAD).

• Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD.)

• Mitochondrial trifunctional protein (MTP).

• Carnitine palmitoyltransferase I deficiency (CPT I).

• Carnitine Palmitoyltransferase II (CPT II).

• Carnitine-acylcarnitine translocase deficiency (CACT).

Positive skin biopsy: patients were deemed to commence the dietary treatment with Triheptanoin after evaluating the individual response in vitro in cultured fibroblasts. This response is based on the measurement of the production of propionyl-CoA, the incubation with fatty acids odd-chain, compared with control group fibroblasts.

The informed consent must be signed by the patient or family, in the case of minors.

Exclusion Criteria:

• No patient/family collaboration or the application of dietary treatment.

• No in vitro test response.

• Do not meet the inclusion criteria.