Bioenergetics and Protein Metabolism in Sporadic Amyotrophic Lateral Sclerosis

NCT02969759 | Unknown Early Phase 1

• 1 other identifier: 2016/36
• Study Type: interventional
• Target: 30
• Locations: 0 countries
• Sites: N/A

Brief Summary

INTRODUCTION: Amyotrophic Lateral Sclerosis (ALS) is a degenerative disease of the motor neurones of the brain and the spinal cord. The pathophysiological mechanisms of the disease remain unknown. The average age of onset of ALS is about 60 years old, and the mean survival of patients is about 2 years. The disease is responsible for a progressive paralysis leading to death from respiratory failure. The only treatment available is the Riluzole, with a very modest efficiency on the progression of the disease. ALS is the third neurodegenerative disease, affecting 6000 persons in France, 150 000 in the world. Among the protagonists involved in the occurrence of the disease, mitochondrial perturbations and protein accumulations seem to be central elements. OBJECTIVES: To precise the implication of energy and protein metabolism in the sporadic forms of ALS, to identify potential biomarkers of the disease and to test new therapies. METHODS: The investigators will study cell growth, bioenergetics, mitochondrial dynamics, free-radicals production, presence of cytoplasmic inclusions, cytoskeleton structure and stress response in primary skin fibroblasts obtained from sporadic ALS patients. The study will be conducted over a period of three years in 3 centres specialized respectively in motor neuron diseases, mitochondrial metabolism and neuronal cytoskeleton. PROSPECTS: If the investigators achieve to identify differences between ALS fibroblasts and controls, the results will be key elements to reinforce the hypothesis of a systemic disease with an important metabolic participation, to better define ALS pathophysiological mechanisms, to find potential biomarkers and to test new therapies.

Conditions

Sporadic Amyotrophic Lateral Sclerosis

Keywords

Bioenergetics; Protein Metabolism; Sporadic Amyotrophic Lateral Sclerosis

Outcome Measures

Primary Outcomes (1)

• Kinetics of fibroblast growth

  The growth rates of the fibroblast lines

  24 hours

Secondary Outcomes (3)

• Mitochondrial metabolism

  24 hours

• Protéic metabolism

  24 hours

• stress in senescence answer

  24 hours

Study Arms (2)

Patients

OTHER

ALS defined by El Escorial Criteria.

Other: Skin Biopsy

Controls

OTHER

Asymptomatic subjects with normal examination.

Other: Skin Biopsy

Interventions

Skin Biopsy OTHER

Controls; Patients

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• a free signed an written consent
• aged between 18 and 80 years old
• ALS defined by El Escorial Criteria
• normal neurological examination

You may not qualify if:

• comorbidity or treatment susceptible to impact on metabolism
• differential diagnosis suspected, early and late forms (\<6 month \> 3 years)
• ALS not defined by El Escorial Criteria
• withdrawal of consent to participate

Sponsors & Collaborators

• University Hospital, Angers: lead

MeSH Terms

Conditions

Amyotrophic lateral sclerosis 1

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 4, 2016
• First Posted: November 21, 2016
• Study Start: November 1, 2016
• Primary Completion: November 1, 2017
• Study Completion: November 1, 2019
• Last Updated: November 23, 2016

Record last verified: 2016-11