Clinical trial NCT02201368: Triheptanoin Treatment Trial for Patients With Long-chain Fatty Acid Beta-oxidation Defects
Official title: Study to Evaluate the Effectiveness of Dietary Treatment With Triheptanoin in Patients With Long-chain Fatty Acid Beta-oxidation Defects
Study type: INTERVENTIONAL
Overall status: WITHDRAWN
Phase: PHASE3
Conditions: Long-chain Fatty Acid Transport Deficiency
Keywords: Triglycerides; Lipid Metabolism; Fatty Acids.
Lead sponsor: Hospital Clinico Universitario de Santiago
Sponsor class: OTHER
Collaborators: name: Fundación Ramón Domínguez
First posted: 2014-07-28
Enrollment: 0
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: CROSSOVER
Primary purpose: TREATMENT

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.

Eligibility 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.

Primary outcomes:
measure: Number of metabolic decompensation.
timeFrame: up to 16 months
Secondary outcomes:
measure: Differences in the profiles of acylcarnitines with control.
timeFrame: 6 months and 6 months in each arm treatment
measure: Average values of transaminase and creatin kinase.
timeFrame: 6 months and 6 months in each arm treatment
measure: Differences in the fatty acid composition of plasma and red blood cells.
timeFrame: 6 months and 6 months in each arm treatment
Other outcomes:
Locations:
city: Santiago de Compostela
country: Spain
facility: Hospital Clínico Universitario de Santiago
Study officials:
affiliation: Hospital Clínico Universitario de Santiago
name: Mª Luz Couce Pico
role: STUDY_CHAIR
affiliation: Hospital Sant Joan de Déu. Barcelona
name: Jaume Campistol Plana
role: PRINCIPAL_INVESTIGATOR
affiliation: Hospital Universitario Ramon y Cajal
name: Mercedes Martínez-Pardo
role: PRINCIPAL_INVESTIGATOR
affiliation: Hospital Clínico Universitario Ntra. Sra. de Candelaria. Tenerife
name: Mónica Ruiz Pons
role: PRINCIPAL_INVESTIGATOR
affiliation: Hospital 12 de Octubre. Madrid
name: Mª Teresa García Silva
role: PRINCIPAL_INVESTIGATOR
affiliation: Hospital de Cruces de Baracaldo - Bilbao
name: Pablo Sanjurjo
role: PRINCIPAL_INVESTIGATOR
affiliation: Hospital de Cruces de Baracaldo - Bilbao
name: Koldo Aldamiz
role: PRINCIPAL_INVESTIGATOR
affiliation: Hospital Universitario Miguel Servet, Zaragoza
name: Inmaculada García Jiménez
role: PRINCIPAL_INVESTIGATOR
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