Lipodystrophy and Fat Metabolism During Exercise

NCT04056000 | Withdrawn

• 1 other identifier: 258840
• Study Type: interventional
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

Mandibular dysplasia with deafness and progeroid features (MDP) syndrome is a rare genetic metabolic disorder that causes lipodystrophy: the inability of the body to store subcutaneous adipose tissue (fat under the skin). This creates a unique scenario where any ingested fat is diverted to the abdomen and liver, often leading to diabetes. The investigators have an opportunity to study an individual with MDP who has competed in and won national para-cycling championships and is able to prevent/control his diabetes by regular bicycle training. He has approached us for advice on nutritional strategies to improve his cycling performance, and insight into how he uses fat during exercise. The investigators also wish to study a moderately-trained cyclist with Familial partial lipodystrophy (FPL). Those with FPL show a different pattern of lipodystrophy than those with MDP, allowing us to further increase the investigator's understanding of fat utilisation in those with lipodystrophy during exercise. The investigators know how subcutaneous fat is used during exercise, and how duration, nutrition, carbohydrate availability, and exercise intensity can affect this. The investigators aim to investigate these processes during exercise in MDP and FPL. This will potentially provide nutrition and performance advice to the individuals, and insight on fat use in lipodystrophy and diabetes.

Conditions

Healthy; Lipodystrophy, Familial Partial

Outcome Measures

Primary Outcomes (1)

• Substrate utilisation

  n..b. Please be aware that the below is a single, composite measure, wherein no single outcome measure cannot exist without the other. As such, it is presented as is, below. How carbohydrate and caffeine ingestion can affect the contribution to energy expenditure during 1 hour of exercise at 55%Wmax from: 1. Plasma free fatty acids 2. Plasma glucose 3. Muscle glycogen 4. Fat from other sources (predominantly muscle) This will be calculated from 1. Plasma free fatty acid oxidation: Production of breath 13CO2 from a continuous infusion of \[U-13C\]palmitate 2. Plasma glucose oxidation: The rate of disappearance of labelled \[6, 6-2H2\] glucose from a continuous infusion 3. Muscle glycogen = Total carbohydrate oxidation - plasma glucose oxidation 4. Fat from other sources = total fat oxidation - plasma free fatty acid oxidation

  Throughout the 60 minute cycle

Secondary Outcomes (4)

• Heart rate

  Throughout the 60 minute cycle

• Plasma glucose concentrations

  Throughout the 60 minute cycle

• Plasma lactate concentrations

  Throughout the 60 minute cycle

• Plasma NEFA concentrations

  Throughout the 60 minute cycle

Study Arms (3)

Exercising following the ingestion of a high-carbohydrate br

EXPERIMENTAL

60 minutes of cycling, with the ingestion of a high-carbohydrate breakfast and 200 mg of caffeine.

Dietary Supplement: Caffeine; Dietary Supplement: High-carbohdyrate breakfast; Behavioral: 60-minutes of steady state exercise

Exercising following the ingestion of caffeine only

EXPERIMENTAL

60 minutes of cycling, with the ingestion of 200 mg of caffeine.

Dietary Supplement: Caffeine; Behavioral: 60-minutes of steady state exercise

Exercising in the absence of breakfast or caffeine ingestion

EXPERIMENTAL

60 minutes of cycling, without the ingestion of breakfast, or caffeine.

Behavioral: 60-minutes of steady state exercise

Interventions

Caffeine DIETARY_SUPPLEMENT

200 mg of caffeine, 60 minutes before exercise

Exercising following the ingestion of a high-carbohydrate br; Exercising following the ingestion of caffeine only

High-carbohdyrate breakfast DIETARY_SUPPLEMENT

Ingestion of a high-carbohydrate breakfast 60 minutes before exercise

Exercising following the ingestion of a high-carbohydrate br

60-minutes of steady state exercise BEHAVIORAL

See intervention name

Exercising following the ingestion of a high-carbohydrate br; Exercising following the ingestion of caffeine only; Exercising in the absence of breakfast or caffeine ingestion

Eligibility Criteria

• Age: 18 Years - 35 Years
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)

You may qualify if:

• Already known to researchers. Male, 29 years old.
• CONTROL SUBJECT 1
• Highly trained, elite-level cyclist (VO2max \> 80 ml/kg/min)
• Registered with, and racing under the jurisdiction of, British Cycling
• \~\< 10% of body fat
• Male
• years old

You may not qualify if:

• Any diagnosed metabolic impairment, as this may affect normal metabolism.
• Any diagnosed cardiovascular disease or hypertension to avoid any complications associated with heavy exercise.
• Chronic use of any prescribed or over-the-counter pharmaceuticals.
• CONTROL SUBJECT 2
• Recreationally active, preferably with experience of cycling training.
• Similar (± 5 ml⋅kg-1⋅min-1) VO2max¬ to that of the participant with MDP
• Any diagnosed metabolic impairment, as this may affect normal metabolism.
• Any diagnosed cardiovascular disease or hypertension to avoid any complications associated with heavy exercise.
• Chronic use of any prescribed or over-the-counter pharmaceuticals.
• SUBJECT WITH FPL
• Recreationally active, preferably with experience of cycling training.
• Similar (± 5 ml⋅kg-1⋅min-1) VO2max¬ to that of the participant with MDP
• Diagnosis with FPL
• Female
• Any diagnosed cardiovascular disease or hypertension to avoid any complications associated with heavy exercise.

Sponsors & Collaborators

• University of Exeter: lead

Study Sites (1)

School of Sport and Health Sciences

Exeter, Devon, EX4 4JA, United Kingdom

Location

MeSH Terms

Conditions

Lipodystrophy, Familial Partial

Interventions

Caffeine

Condition Hierarchy (Ancestors)

Laminopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipodystrophy; Skin Diseases, Metabolic; Skin Diseases; Skin and Connective Tissue Diseases; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Xanthines; Alkaloids; Heterocyclic Compounds; Purinones; Purines; Heterocyclic Compounds, 2-Ring; Heterocyclic Compounds, Fused-Ring

Study Officials

• Andrew Davenport, MSc

  The University of Exeter

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 23, 2019
• First Posted: August 14, 2019
• Study Start: September 1, 2019
• Primary Completion: December 31, 2019
• Study Completion: December 31, 2019
• Last Updated: August 31, 2021

Record last verified: 2021-08

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)