Glycogen Storage Disease Type IIINCT02448667
Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies
A study testing FAXE Kondi and Faxe Kondi Free in people with Glycogen Storage Disease Type III, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
Trial summary
Patients suffering from the metabolic myopathy Glycogen Storage Disease type IIIa (GSDIIIa) have a problem releasing sugar stored in cells that is needed for energy production. This causes several systemic impairments, but only recently have the exercise-related symptoms in the muscles been examined. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Glycogen Storage Disease Type III
- What is being tested?
- FAXE Kondi and Faxe Kondi Free
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 6 participants
- Where
- 1 siteDenmark
- Study dates
- Jan 2015to 25 May 2021
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Genetically and/or biochemically verified GSDIIIa.
- 18 years or older.
Who cannot join
- Clinically significant cardiac or pulmonary disease.
- Pregnancy or lactation.
- Severe mental disorders or participants that are in other ways unable to understand the purpose of the trials.
- Subjects where the investigator assess that it is not possible or very difficult to place an intravenous catheters.
- Other conditions of the joints or skeletal muscle such as arthritis or sprains. If the condition is expected to resolve before the study inclusion period is stopped, the subject may be included at a later time.
- Moderate to severe muscle weakness, where the participants are not expected to complete 10 minutes of cycle-ergometry exercise at 70 % of VO2peak.
Show all 11Show fewer
- Verified diabetes.
- Participation in other clinical trials that may interfere with the results.
- Medications that may interfere with the results or increase the risk of bleeding.
- Blood-clotting or bleeding disorders.
- Blood donation one month or less prior to inclusion.
Trial locations and contacts
1 site in 1 country.
Denmark1 site
Copenhagen Neuromuscular Center, department 3342, Rigshospitalet
Copenhagen, Capital Region, 2100
About this study
Patients suffering from the metabolic myopathy Glycogen Storage Disease type IIIa (GSDIIIa) have a problem releasing sugar stored in cells that is needed for energy production. This causes several systemic impairments, but only recently have the exercise-related symptoms in the muscles been examined. A previous study showed signs that intravenous infusion of glucose relieves some of these symptoms. The purpose of this study is to investigate in a randomized and placebo-controlled fashion whether oral ingestion of sugar can alleviate muscular symptoms in patients with GSDIIIa.
Read the detailed description
It has recently been documented how patients with GSDIIIa have a moderate to severely reduced exercise capacity, and that exercise induces muscle pain and cramps. These symptoms are caused by the inability to mobilize skeletal muscle glycogen and are most likely the consequence of a severe energy deficiency within muscles. The study changed the phenotype of GSDIIIa, to include exercise-induced symptoms, which is a typical presentation in other metabolic myopathies. It also documented that exercise capacity was significantly improved while exercise-induced muscular symptoms were relieved by an intravenous glucose infusion. Based on these findings, this study wishes to investigate if oral ingestion of sucrose has the same effects on work capacity on a larger number of patients, in a randomized, placebo-controlled, cross-over setup. Ingestion of sucrose has the potential to be an effective, cheap and easily accessible dietary treatment of muscular symptoms in GSDIIIa.
- Conditions
- Glycogen Storage Disease Type III
- Being tested
- FAXE Kondi, Faxe Kondi Free
- Medical subject headings
- Glycogen Storage Disease Type III
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
FAXE KondiDietary supplement
Sucrose and glucose containing softdrink
Faxe Kondi FreeDietary supplement
Diet softdrink with artificial sweeteners aspartame and acesulfame potassium. Both sweeteners are approved for use as food additives in the European Union and by the FDA. Aspartame metabolism is well understood and normal doses does not affect plasma concentrations of lipids, amino acids, glucose levels, key regulatory hormones or skeletal muscle metabolism. Acesulfame Potassium is not metabolized in humans and is excreted as the parent compound in urine. Since the two artificial sweeteners does not affect skeletal muscle metabolism or blood glucose levels, and both compounds have a well documented safety profiles, FAXE Kondi Free is considered to be an ideal placebo soft drink in this study.
| Study group | Role | What they receive |
|---|---|---|
| FAXE Kondi - a sugary soft-drink | Experimental | 100 ml FAXE Kondi (10 grams of carbohydrates per 100 ml) is ingested every ten minutes during exercise plus 400 ml before exercise start. Receives: Dietary Supplement: FAXE Kondi |
| FAXE Kondi Free - a sugarfree soft-drink | Placebo comparator | 100 ml FAXE Kondi Free (0 grams of carbohydrates per 100 ml) is ingested every ten minutes during exercise plus 400 ml before exercise start. Receives: Dietary Supplement: Faxe Kondi Free |
What is being measured
The primary outcome is the main question the study is designed to answer.
maximal work capacity
Area Under the Curve (AUC) = resistance times duration of workout
Measured: After up to 1 hour of bicycling on the 2nd and 4th day.
Secondary outcomes (6)
Peak oxygen consumption
(VO2peak)
Measured: After up to 1 hour of cycling on the 2nd and 4th day.
Peak workload
(Wpeak)
Measured: After up to 1 hour of cycling on the 2nd and 4th day.
Peak respiratory exchange ratio
(RER)
Measured: After up to 1 hour of cycling on the 2nd and 4th day.
p-lactate
Analysis of blood sample
Measured: measured at rest and max on day 1, and before first dose of soft drink, before exercise and every 10 minutes during exercise at day 2 and 4.
Heart rate
pulsemonitoring
Measured: Continously during the cycle test (max. 1 hour) on the 2nd and 4th day
Borg score
Rate of percieved exertion
Measured: Measured periodically during the cycle test (max. 1 hour) on the 2nd and 4th day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 May 2015 (estimated)
- Study startJan 2015
- Primary completion17 Apr 2017
- Study completion25 May 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (16)Papers the sponsor has linked to this study.
- Other trials for Glycogen Storage Disease Type IIIStudies of the same condition, open and under way.
- More trials run by Copenhagen University Hospital, RigshospitaletThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital, Rigshospitalet
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Astrid Emilie Buch, Copenhagen University Hospital, Rigshospitalet
- Investigators
- Astrid E Buch, BSc Medicine, Principal investigator, Copenhagen Neuromuscular Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02448667
- Sponsor's protocol ID
- H-4-2014-014
- Status last verified
- Feb 2024
- First submitted
- 15 May 2015
- Last updated
- 26 Feb 2024
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6.
PubMed 20631546Van Hoof F, Hers HG. The subgroups of type 3 glycogenosis. Eur J Biochem. 1967 Oct;2(3):265-70. doi: 10.1111/j.1432-1033.1967.tb00134.x. No abstract available.
PubMed 5235982Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med. 1992 Jun 1;116(11):896-900. doi: 10.7326/0003-4819-116-11-896.
PubMed 1580445Preisler N, Pradel A, Husu E, Madsen KL, Becquemin MH, Mollet A, Labrune P, Petit F, Hogrel JY, Jardel C, Maillot F, Vissing J, Laforet P. Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency? Mol Genet Metab. 2013 May;109(1):14-20. doi: 10.1016/j.ymgme.2013.02.008. Epub 2013 Feb 19.
PubMed 23507172Haller RG, Vissing J. Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms. Arch Neurol. 2002 Sep;59(9):1395-402. doi: 10.1001/archneur.59.9.1395.
PubMed 12223025Dupont WD, Plummer WD Jr. Power and sample size calculations. A review and computer program. Control Clin Trials. 1990 Apr;11(2):116-28. doi: 10.1016/0197-2456(90)90005-m.
PubMed 2161310Preisler N, Laforet P, Madsen KL, Hansen RS, Lukacs Z, Orngreen MC, Lacour A, Vissing J. Fat and carbohydrate metabolism during exercise in late-onset Pompe disease. Mol Genet Metab. 2012 Nov;107(3):462-8. doi: 10.1016/j.ymgme.2012.08.019. Epub 2012 Aug 31.
PubMed 22981821Borg G. Perceived exertion as an indicator of somatic stress. Scand J Rehabil Med. 1970;2(2):92-8. No abstract available.
PubMed 5523831Coyle EF. Carbohydrate supplementation during exercise. J Nutr. 1992 Mar;122(3 Suppl):788-95. doi: 10.1093/jn/122.suppl_3.788.
PubMed 1542049Maki DG, Kluger DM, Crnich CJ. The risk of bloodstream infection in adults with different intravascular devices: a systematic review of 200 published prospective studies. Mayo Clin Proc. 2006 Sep;81(9):1159-71. doi: 10.4065/81.9.1159.
PubMed 16970212Chattopadhyay S, Raychaudhuri U, Chakraborty R. Artificial sweeteners - a review. J Food Sci Technol. 2014 Apr;51(4):611-21. doi: 10.1007/s13197-011-0571-1. Epub 2011 Oct 21.
PubMed 24741154Marinovich M, Galli CL, Bosetti C, Gallus S, La Vecchia C. Aspartame, low-calorie sweeteners and disease: regulatory safety and epidemiological issues. Food Chem Toxicol. 2013 Oct;60:109-15. doi: 10.1016/j.fct.2013.07.040. Epub 2013 Jul 23.
PubMed 23891579Magnuson BA, Burdock GA, Doull J, Kroes RM, Marsh GM, Pariza MW, Spencer PS, Waddell WJ, Walker R, Williams GM. Aspartame: a safety evaluation based on current use levels, regulations, and toxicological and epidemiological studies. Crit Rev Toxicol. 2007;37(8):629-727. doi: 10.1080/10408440701516184.
PubMed 17828671EFSA ANS Panel (EFSA Panel on Food Additives and Nutrient Sources added to food), 2013. Scientific Opinion on the re-evaluation of aspartame (E 951) as a food additive. EFSA Journal 2013;11(12):3496, 263 pp. doi:10.2903/j.efsa.2013.3496
Harris RA. Carbohydrate metabolism I: Major metabolic pathways and their control. In: Devlin TM, ed. Textbook of biochemistry with clinical correlations, 6th ed Wiley-Liss, 2006:581-635
Study at a glance
From the registry record, last updated by the sponsor on 26 Feb 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies
- ClinicalTrials.gov ID
- NCT02448667
- Acronym / sponsor ID
- H-4-2014-014
- Conditions
- Glycogen Storage Disease Type III
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 6 participants (actual)
- Lead sponsor
- Copenhagen University Hospital, RigshospitaletUniversity, hospital or other
- Study start
- Jan 2015
- Primary completion
- 17 Apr 2017 (actual)
- Study completion
- 25 May 2021 (actual)
- First posted
- 19 May 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Patients suffering from the metabolic myopathy Glycogen Storage Disease type IIIa (GSDIIIa) have a problem releasing sugar stored in cells that is needed for energy production. This causes several systemic impairments, but only recently have the exercise-related symptoms in the muscles been examined. A previous study showed signs that intravenous infusion of glucose relieves some of these symptoms. The purpose of this study is to investigate in a randomized and placebo-controlled fashion whether oral ingestion of sugar can alleviate muscular symptoms in patients with GSDIIIa.
Detailed description
It has recently been documented how patients with GSDIIIa have a moderate to severely reduced exercise capacity, and that exercise induces muscle pain and cramps. These symptoms are caused by the inability to mobilize skeletal muscle glycogen and are most likely the consequence of a severe energy deficiency within muscles. The study changed the phenotype of GSDIIIa, to include exercise-induced symptoms, which is a typical presentation in other metabolic myopathies. It also documented that exercise capacity was significantly improved while exercise-induced muscular symptoms were relieved by an intravenous glucose infusion. Based on these findings, this study wishes to investigate if oral ingestion of sucrose has the same effects on work capacity on a larger number of patients, in a randomized, placebo-controlled, cross-over setup. Ingestion of sucrose has the potential to be an effective, cheap and easily accessible dietary treatment of muscular symptoms in GSDIIIa.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| FAXE Kondi - a sugary soft-drink | Experimental | Dietary Supplement: FAXE Kondi100 ml FAXE Kondi (10 grams of carbohydrates per 100 ml) is ingested every ten minutes during exercise plus 400 ml before exercise start. |
| FAXE Kondi Free - a sugarfree soft-drink | Placebo comparator | Dietary Supplement: Faxe Kondi Free100 ml FAXE Kondi Free (0 grams of carbohydrates per 100 ml) is ingested every ten minutes during exercise plus 400 ml before exercise start. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- Genetically and/or biochemically verified GSDIIIa.
- 18 years or older.
Key exclusion criteria (11 listed)
- Clinically significant cardiac or pulmonary disease.
- Pregnancy or lactation.
- Severe mental disorders or participants that are in other ways unable to understand the purpose of the trials.
- Subjects where the investigator assess that it is not possible or very difficult to place an intravenous catheters.
- Other conditions of the joints or skeletal muscle such as arthritis or sprains. If the condition is expected to resolve before the study inclusion period is stopped, the subject may be included at a later time.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| FAXE KondiSucrose and glucose containing softdrink | Dietary supplement | FAXE Kondi - a sugary soft-drink |
| Faxe Kondi FreeDiet softdrink with artificial sweeteners aspartame and acesulfame potassium. Both sweeteners are approved for use as food additives in the European Union and by the FDA. Aspartame metabolism is well understood and normal doses does not affect plasma concentrations of lipids, amino acids, glucose levels, key regulatory hormones or skeletal muscle metabolism. Acesulfame Potassium is not metabolized in humans and is excreted as the parent compound in urine. Since the two artificial sweeteners does not affect skeletal muscle metabolism or blood glucose levels, and both compounds have a well documented safety profiles, FAXE Kondi Free is considered to be an ideal placebo soft drink in this study. | Dietary supplement | FAXE Kondi Free - a sugarfree soft-drink |
Primary outcome
maximal work capacity
Time frame: After up to 1 hour of bicycling on the 2nd and 4th day.
Area Under the Curve (AUC) = resistance times duration of workout
6 secondary outcomes
Peak oxygen consumption
Time frame: After up to 1 hour of cycling on the 2nd and 4th day.
Peak workload
Time frame: After up to 1 hour of cycling on the 2nd and 4th day.
Peak respiratory exchange ratio
Time frame: After up to 1 hour of cycling on the 2nd and 4th day.
p-lactate
Time frame: measured at rest and max on day 1, and before first dose of soft drink, before exercise and every 10 minutes during exercise at day 2 and 4.
Heart rate
Time frame: Continously during the cycle test (max. 1 hour) on the 2nd and 4th day
Borg score
Time frame: Measured periodically during the cycle test (max. 1 hour) on the 2nd and 4th day
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Feb 2024.
- Background: PubMed 20631546Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6.
- Background: PubMed 5235982Van Hoof F, Hers HG. The subgroups of type 3 glycogenosis. Eur J Biochem. 1967 Oct;2(3):265-70. doi: 10.1111/j.1432-1033.1967.tb00134.x. No abstract available.
- Background: PubMed 1580445Coleman RA, Winter HS, Wolf B, Gilchrist JM, Chen YT. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann Intern Med. 1992 Jun 1;116(11):896-900. doi: 10.7326/0003-4819-116-11-896.
- Background: PubMed 23507172Preisler N, Pradel A, Husu E, Madsen KL, Becquemin MH, Mollet A, Labrune P, Petit F, Hogrel JY, Jardel C, Maillot F, Vissing J, Laforet P. Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency? Mol Genet Metab. 2013 May;109(1):14-20. doi: 10.1016/j.ymgme.2013.02.008. Epub 2013 Feb 19.
- Background: PubMed 12223025Haller RG, Vissing J. Spontaneous "second wind" and glucose-induced second "second wind" in McArdle disease: oxidative mechanisms. Arch Neurol. 2002 Sep;59(9):1395-402. doi: 10.1001/archneur.59.9.1395.
- Background: PubMed 2161310Dupont WD, Plummer WD Jr. Power and sample size calculations. A review and computer program. Control Clin Trials. 1990 Apr;11(2):116-28. doi: 10.1016/0197-2456(90)90005-m.
- Background: PubMed 22981821Preisler N, Laforet P, Madsen KL, Hansen RS, Lukacs Z, Orngreen MC, Lacour A, Vissing J. Fat and carbohydrate metabolism during exercise in late-onset Pompe disease. Mol Genet Metab. 2012 Nov;107(3):462-8. doi: 10.1016/j.ymgme.2012.08.019. Epub 2012 Aug 31.
- Background: PubMed 5523831Borg G. Perceived exertion as an indicator of somatic stress. Scand J Rehabil Med. 1970;2(2):92-8. No abstract available.
- Background: PubMed 1542049Coyle EF. Carbohydrate supplementation during exercise. J Nutr. 1992 Mar;122(3 Suppl):788-95. doi: 10.1093/jn/122.suppl_3.788.
- Background: PubMed 16970212Maki DG, Kluger DM, Crnich CJ. The risk of bloodstream infection in adults with different intravascular devices: a systematic review of 200 published prospective studies. Mayo Clin Proc. 2006 Sep;81(9):1159-71. doi: 10.4065/81.9.1159.
- Background: PubMed 24741154Chattopadhyay S, Raychaudhuri U, Chakraborty R. Artificial sweeteners - a review. J Food Sci Technol. 2014 Apr;51(4):611-21. doi: 10.1007/s13197-011-0571-1. Epub 2011 Oct 21.
- Background: PubMed 23891579Marinovich M, Galli CL, Bosetti C, Gallus S, La Vecchia C. Aspartame, low-calorie sweeteners and disease: regulatory safety and epidemiological issues. Food Chem Toxicol. 2013 Oct;60:109-15. doi: 10.1016/j.fct.2013.07.040. Epub 2013 Jul 23.
- Scientific Committee on Food. Re-evaluation of acesulfame K with reference to the previous SCF opinion of 1991.Link provided by the sponsor.
- Individual participant dataSharing planned: No
Related trials for Glycogen Storage Disease Type III
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
RecruitingObservational study
Non-invasive Assessment of Liver Fibrosis in a French Cohort of Pediatric Patients With Type III Glycogen Storage Disease: Current State and Perspectives
Liver Fibrosis
RecruitingObservational study
French Observatory for Patients with Type 3 Glycogenosis
Glycogen Storage Disease Type III
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Astrid E Buch, BSc Medicine principal investigator
Copenhagen Neuromuscular Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing FAXE Kondi and Faxe Kondi Free in people with Glycogen Storage Disease Type III, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 Feb 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Denmark. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
maximal work capacity (time frame: After up to 1 hour of bicycling on the 2nd and 4th day.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02448667, which also lists 16 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Feb 2024.