NCT00328159

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
20

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Jun 2006

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

May 18, 2006

Completed
1 day until next milestone

First Posted

Study publicly available on registry

May 19, 2006

Completed
13 days until next milestone

Study Start

First participant enrolled

June 1, 2006

Completed
4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2010

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2010

Completed
Last Updated

February 17, 2011

Status Verified

March 1, 2007

Enrollment Period

4 years

First QC Date

May 18, 2006

Last Update Submit

February 16, 2011

Conditions

Keywords

FAO disorderslong-chain FAO enzyme defectsinborn errors of metabolismcarnitine 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).

Outcome Measures

Primary Outcomes (3)

  • Strength tests

    24 months

  • Biological parameters (acylcarnitines profile, modifications of urinary organic acids)

    24 months

  • Clinical parameters (echocardiography)

    24 months

Secondary Outcomes (4)

  • Ergometric testing

    24 months

  • Hepatic functions

    24 months

  • Hypoglycaemia

    24 months

  • Rhabdomyolyses

    24 months

Interventions

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • 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)

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Necker University Hospital - Metabolism Unit

Paris, 75743, France

Location

MeSH Terms

Conditions

Metabolism, Inborn ErrorsVLCAD deficiency

Condition Hierarchy (Ancestors)

Genetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Guy Touati, PU-PH

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
RANDOMIZED
Masking
DOUBLE
Who Masked
PARTICIPANT, INVESTIGATOR
Purpose
TREATMENT
Intervention Model
CROSSOVER
Sponsor Type
OTHER

Study Record Dates

First Submitted

May 18, 2006

First Posted

May 19, 2006

Study Start

June 1, 2006

Primary Completion

June 1, 2010

Study Completion

June 1, 2010

Last Updated

February 17, 2011

Record last verified: 2007-03

Locations