UnknownPhase 2

Nutritional Therapy in Late-onset Pompe Disease

28 participantsStarted 2024-04-01

Plain-language summary

RATIONALE: Pompe disease (PD) is a recessive genetic disorder wherein the body cannot break down glycogen due to a mutation in the acid alpha glucosidase (GAA) gene, which encodes for acid alpha-glucosidase. The adult/late onset form (LOPD) leads to glycogen accumulation and autophagic buildup, causing progressive muscle weakness that leads to wheelchair dependence, reduced quality of life and premature death due to cardiorespiratory insufficiency. While nutritional strategies, such as the low carbohydrate/high protein and ketogenic diets, have been used clinically, they are difficult to maintain and have limited benefits. Multi-ingredient supplementation (MIS) allows for targeting of several underlying pathogenic pathways and may be more convenient than traditional dietary strategies, thereby improving both adherence and LOPD pathology.

Who can participate

Age range

21 Years – 90 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Genetically confirmed LOPD * Have undergone enzyme replacement therapy for at least three months. * Physically capable of doing rehabilitative exercise, respiratory muscle training, and the clinical tests described herein. Exclusion Criteria: * Dairy protein allergy * Renal disease (creatinine \> 140) * Attempting pregnancy or currently pregnant * Current supplementation

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Percent change in the body composition index by DEXA analyses

Timeframe: Baseline to 4 months

Percent change in seated pulmonary function by spirometry

Timeframe: Baseline to 4 months

Percent change in supine pulmonary function by spirometry

Timeframe: Baseline to 4 months

Percent change in 6-minute walking test distance

Timeframe: Baseline to 4 months

Trial details

NCT IDNCT06130228

SponsorMcMaster University

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2024-09-01

Contact for this trial

Mark A Tarnopolsky, MD/PhD

9055212100 tarnopol@mcmaster.ca

View on ClinicalTrials.gov More Pompe Disease trials

Plain-language summary

Who can participate

Age range

21 Years – 90 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Percent change in the body composition index by DEXA analyses

Timeframe: Baseline to 4 months

Percent change in seated pulmonary function by spirometry

Timeframe: Baseline to 4 months

Percent change in supine pulmonary function by spirometry

Timeframe: Baseline to 4 months

Percent change in 6-minute walking test distance

Timeframe: Baseline to 4 months