Modified Ketogenic Diet in Patients With McArdle Disease Part B

NCT04044508 | Completed

• 1 other identifier: H-18013022-B
• Study Type: interventional
• Target: 20
• Locations: 2 countries
• Sites: 2

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 a modified ketogenic diet could be a potential treatment option, by providing ketones as alternative fuel substrates for working muscle. This blinded, placebo-controlled, cross-over study will investigate the potential effects of an optimal modified ketogenic diet found in part A (75% fat, 15%protein, 10%carbohydrates) in patients with McArdle disease compared with a healthy balanced placebo diet (\>100grams of carbohydrates per day).

Conditions

McArdle Disease

Outcome Measures

Primary Outcomes (1)

• Change in mean heart rate

  Change in mean heart rate (bpm) during constant load cycling exercise (30 minute submaximal cycle test). Heart rate will be measured every minute during the cycle test at all visits.

  At Visit 1 (baseline), Visit 2 (4 weeks), Visit 3 (8 weeks), and Visit 4 (12 weeks)

Secondary Outcomes (15)

• Compliance

  up 12 weeks

• Change in Indirect calorimetry

  At Visit 1 (baseline), Visit 2 (4 weeks), Visit 3 (8 weeks), and Visit 4 (12 weeks)

• Change in self-rated daily function scores

  At Visit 1 (baseline), Visit 2 (4 weeks), Visit 3 (8 weeks), and Visit 4 (12 weeks)

• Change in self-rated fatigue

  At Visit 1 (baseline), Visit 2 (4 weeks), Visit 3 (8 weeks), and Visit 4 (12 weeks)

• Change in blood ketones

  At Visit 1 (baseline), Visit 2 (4 weeks), Visit 3 (8 weeks), and Visit 4 (12 weeks)

Study Arms (2)

Interventional diet

ACTIVE COMPARATOR

A modified ketogenic diet (with the composition found in the pilot study, 75%fat, 15% protein, 10% carbohydrates)

Dietary Supplement: Ketocal 4:1 liquid Nutricia (intervention)

Placebo diet

PLACEBO COMPARATOR

A placebo diet (over 100 g of carbohydrates per day)

Dietary Supplement: Fortini multifibre Nutrica (placebo)

Interventions

Ketocal 4:1 liquid Nutricia (intervention) DIETARY_SUPPLEMENT

Modified ketogenic diet

Interventional diet

Fortini multifibre Nutrica (placebo) DIETARY_SUPPLEMENT

Placebo diet

Placebo diet

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Genetically confirmed GSDV
• Patient is willing and able to provide written informed consent prior to participation.
• Patient is ambulatory.
• Women in fertile age must be willing to practice the following medically acceptable methods of birth control

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
• Patients with porphyria or disorders of fat metabolism (primary carnitine deficiency, carnitine palmitoyltransferase I or II, β-oxidation defects etc.).

Sponsors & Collaborators

• Rigshospitalet, Denmark: lead
• University College, London: collaborator

Study Sites (2)

Copenhagen Neuromuscular Center, Rigshospitalet

Copenhagen, Denmark

Location

National Hospital for Neurology and neurosurgery

London, United Kingdom

Location

Related Publications (1)

• Lokken N, Nielsen MR, Stemmerik MG, Ellerton C, Revsbech KL, Macrae M, Slipsager A, Krett B, Beha GH, Emanuelsson F, van Hall G, Quinlivan R, Vissing J. Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study. Clin Nutr. 2023 Nov;42(11):2124-2137. doi: 10.1016/j.clnu.2023.09.006. Epub 2023 Sep 20.

  PMID: 37769369 DERIVED

MeSH Terms

Conditions

Glycogen Storage Disease Type V

Interventions

Methods

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

Intervention Hierarchy (Ancestors)

Investigative Techniques

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: DOUBLE
• Who Masked: PARTICIPANT, INVESTIGATOR
• Masking Details: Disguise products (Oral supplements: Nutricia 'ketocal' (intervention) or Nutricia 'fortini' (placebo)
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, Research fellow

Model Details: Randomized, blind, placebo-controlled, cross over study

Study Record Dates

• First Submitted: December 12, 2018
• First Posted: August 5, 2019
• Study Start: August 3, 2019
• Primary Completion: October 1, 2022
• Study Completion: December 1, 2022
• Last Updated: February 13, 2023

Record last verified: 2023-02

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1); DK (1)