Acute Nutritional Ketosis in GSD IIIa

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

6 participants

Study Classification

INTERVENTIONAL

Study Start Date

2017-02-10

Study Completion Date

2018-03-23

Brief Summary

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The investigators will study if acute nutritional ketosis in adult GSD IIIa patients can boost muscle mitochondrial function in vivo.

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Detailed Description

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Glycogen Storage Disease type IIIa (GSD IIIa) is an inborn error of carbohydrate metabolism caused by impaired glycogen debranching enzyme (GDE) activity. The ageing GSD IIIa cohort shows that muscle involvement -despite dietary management- is a common disabling phenotype in adulthood. Currently, no specific therapy has been established for muscle problems in adult GSD IIIa patients.

However, it could be hypothesized that nutritional ketosis (NK) will be highly beneficial to patients. Amongst others, ketone bodies could take on the role of primary energy source in exercising muscle. Recently, acute NK in exercise was studied in humans. NK was found to enhance muscle mitochondrial function in athletes.

The investigators will study if acute NK in adult GSD IIIa patients can boost muscle mitochondrial function in vivo.

Conditions

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Glycogen Storage Disease IIIA

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

CROSSOVER

Primary Study Purpose

OTHER

Blinding Strategy

DOUBLE

Participants Outcome Assessors

Study Groups

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Ketone-ester drink

Oral intake - physical exercise

Group Type EXPERIMENTAL

physical exercise

Intervention Type OTHER

In session II and III participants will perform an exercise test on a bicycle inside and outside the MR scanner.

Carbohydrate drink

Oral intake - physical exercise

Group Type ACTIVE_COMPARATOR

physical exercise

Intervention Type OTHER

In session II and III participants will perform an exercise test on a bicycle inside and outside the MR scanner.

Interventions

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physical exercise

In session II and III participants will perform an exercise test on a bicycle inside and outside the MR scanner.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* GSD III confirmed with enzyme assay and/or AGL mutation analysis and GSD IIIa further specified as deficient debranching enzyme activity in muscle or clinical and/or biochemical signs of cardiac and/or skeletal muscular involvement.

Exclusion Criteria

* contraindications for MRI studies (assessed by standardised questionnaire)
* inability to perform bicycle exercise.
* intercurrent illness which may influence exercise tolerance (anemia, musculoskeletal injury, or other undiagnosed illness under investigation).
* known coronary artery disease, positive history for angina or cardiomyopathy.
* insulin-dependent diabetes mellitus.
* loss of, or an inability to give informed consent.
* pregnancy or current breastfeeding.
* any other cause which in the opinion of the investigators, may affect the participant's ability to participate in the study

Minimum Eligible Age

18 Years

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No