Oral Ketone Body Supplementation in Patients With McArdle Disease

NCT03945370 | Completed DMC

• 1 other identifier: H-18033230.1
• Study Type: interventional
• Target: 8
• Locations: 1 country
• Sites: 1

Brief Summary

McArdle disease, glycogen storage disease type V, is a rare metabolic disease. Affected individuals are unable to utilize sugar stored as glycogen in muscle. Investigators hypothesize that ketones can be an alternative fuel substrate for skeletal muscle when muscle glycogenolysis is blocked as in McArdle disease. In this study investigators will investigate the immediate effects of an oral supplementation of exogenous ketone bodies (poly-hydroxybuturate) on exercise capacity in patients with metabolic myopathies, compared with a placebo drink.

Conditions

McArdle Disease

Outcome Measures

Primary Outcomes (1)

• Heart rate

  Change between visit 1 and 2 in mean heart rate during constant load cycling exercise (40 minute submaximal cycle test)

  30 minuts x 2

Secondary Outcomes (8)

• Ketone metabolism

  150 minuts x 2

• Carbohydrate metabolism

  150 minuts x 2

• Fat metabolism

  150 minuts x 2

• Indirect calorimetry

  30 minuts x 2

• Perceived exertion

  30 minuts x 2

Study Arms (2)

Intervention sequence 1

ACTIVE COMPARATOR

Ketone drink first - Placebo drink secondly

Dietary Supplement: β-hydroxybuturate esters; Dietary Supplement: Placebo drink

Intervention sequence 2

PLACEBO COMPARATOR

Placebo drink first - Ketone drink secondly

Dietary Supplement: β-hydroxybuturate esters; Dietary Supplement: Placebo drink

Interventions

β-hydroxybuturate esters DIETARY_SUPPLEMENT

Oral dietary supplement product containing β-hydroxybuturate esters

Intervention sequence 1; Intervention sequence 2

Placebo drink DIETARY_SUPPLEMENT

Oral placebo drink

Intervention sequence 1; Intervention sequence 2

Eligibility Criteria

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

You may qualify if:

• Genetically confirmed McArdle disease or healthy control.
• Patient is willing and able to provide written informed consent prior to participation.
• Patient is ambulatory.

You may not qualify if:

• Patient has any prior or current medical conditions that, in the judgment of the Investigator, would prevent the patient from safely participating in and/or completing all study requirements.
• Pregnancy or breastfeeding
• Patient does not have the cognitive capacity to understand/comprehend and complete all study assessments.

Sponsors & Collaborators

• Rigshospitalet, Denmark: lead

Study Sites (1)

Copenhagen Neuromuscular Center

Copenhagen, Denmark

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type V

Condition Hierarchy (Ancestors)

Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: DOUBLE
• Who Masked: PARTICIPANT, INVESTIGATOR
• Purpose: BASIC SCIENCE
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principle investigator, MD, research fellow

Model Details: Placebo-controlled, single-blind, cross-over study

Study Record Dates

• First Submitted: February 18, 2019
• First Posted: May 10, 2019
• Study Start: May 6, 2019
• Primary Completion: October 1, 2020
• Study Completion: October 1, 2020
• Last Updated: October 6, 2020

Record last verified: 2020-10

Data Sharing

• IPD Sharing: Will not share

Locations

DK (1)