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

Phase 3

Withdrawn

• Conditions: Long-chain Fatty Acid Transport Deficiency
• Interventions: Drug: Triheptanoin (SpezialölÒ 107®); Dietary Supplement: MCT (Medium-Chain Triglycerides)

• Registration Number: NCT02201368
• Lead Sponsor: Maria Luz Couce Pico

Brief 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.

Detailed Description

Triheptanoin treatment, in patients with long-chain fatty acid beta-oxidation defects, could cause not only a great improvement in their quality of life, also could prevent life-threatening signs, reducing symptoms and serious complications of their disease, like cardiomyopathy, Reye-like syndrome episodes and rhabdomyolysis. This result would occur by the effect of propionyl CoA primer on the Krebs cycle and, at the same time, would produce a gluconeogenic effect.

This treatment opens the door to be used in other diseases such as pyruvate carboxylase deficiency, glycogen storage disease and other diseases with energy problems.

All patients will be followed up until 16 months.

Study Timeline

• Study Start: 2009-11
• Primary Completion: 2010-03
• Study Completion: 2011-10
• Study First Submitted: 2013-03-22
• Status Verified: 2014-07
• Study First Submitted QC: 2014-07-25
• Last Update Submitted: 2014-07-25
• Study First Posted: 2014-07-28
• Last Update Posted: 2014-07-28

Recruitment & Eligibility

• Status: WITHDRAWN
• Sex: All
• Target Recruitment: Not specified

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: CROSSOVER

Arm && Interventions

Group	Intervention	Description
Triheptanoin	MCT (Medium-Chain Triglycerides)	-
MCT (Medium-Chain Triglycerides)	MCT (Medium-Chain Triglycerides)	-
Triheptanoin	Triheptanoin (SpezialölÒ 107®)	-
MCT (Medium-Chain Triglycerides)	Triheptanoin (SpezialölÒ 107®)	-

Primary Outcome Measures

Name	Time	Method
Number of metabolic decompensation.	up to 16 months	This is a combined endpoint, including the number and/or severity of episodes of hypoglycemia, rhabdomyolysis, cardiomyopathy and liver failure after starting treatment with trihepatnoin.

Secondary Outcome Measures

Name	Time	Method
Differences in the profiles of acylcarnitines with control.	6 months and 6 months in each arm treatment
Average values of transaminase and creatin kinase.	6 months and 6 months in each arm treatment
Differences in the fatty acid composition of plasma and red blood cells.	6 months and 6 months in each arm treatment

Trial Locations

Locations (1)

Hospital Clínico Universitario de Santiago; 🇪🇸 Santiago de Compostela, Spain