NCT06130228

Nutritional Therapy in Late-onset Pompe Disease

Multi-ingredient Supplementation as an Adjunctive Therapy in Late-onset Pompe Disease

• Status: Unknown
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 28 (estimated)
• Sponsor: McMaster University · Academic / Other
• Sex: All
• Age: 21 Years – 90 Years
• Healthy volunteers: Not accepted

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.

Detailed description

DESIGN AND INTERVENTION: The present study is a 4-month randomized, double-blind, placebo-controlled clinical trial (RCT) with sampling pre and post intervention in late onset Pompe disease patients undergoing enzyme replacement therapy (ERT) (21-90 years of age). Each patient will be randomized into either a Pompe-Targeted Multi-Ingredient Supplement (PDT-MIS; high-quality proteins, antioxidants, plant extracts, vitamins, and omega-3 fatty acids,) or placebo (PLA; collagen, safflower, and cellulose) group and then undergo four months of daily supplementation with concurrent rehabilitative exercise training (mixed cardio and strength four days/week) and respiratory muscle training (four days/week). GENERAL RESEARCH AIMS AND HYPOTHESIS: The purpose of this study is to investigate the benefits of PDT-MIS on muscle and blood pathology, muscle function, respiratory capacity, and health-related quality of life (HRQOL) in LOPD patients on enzyme replacement therapy (ERT). It is generally hypothesized that PTD-MIS will mitigate mitochondrial dysfunction, oxidative damage, inflammation and alleviate 'autophagic block' in skeletal muscle of LOPD patients. PDT-MIS may therefore improve muscle pathology by affecting several cell pathways simultaneously, and thereby enhance muscle function, respiratory capacity, and HRQOL of LOPD patients.

Conditions

• Pompe Disease
• Muscle Loss
• Obesity
• Nutrition Poor
• Lysosomal Storage Diseases
• Glycogen Storage Disease Type II
• Glycogen Storage Disease Type II Late Onset
• Glycogen Storage Disease Type II, Adult

Interventions

Type	Name	Description
DIETARY_SUPPLEMENT	Multi-ingredient supplement (PDT-MIS)	Supplementation with active PDT-MIS daily
DIETARY_SUPPLEMENT	Placebo (PLA)	Supplementation with inactive placebo

Timeline

• Start date: 2024-04-01
• Primary completion: 2024-09-01
• Completion: 2025-04-01
• First posted: 2023-11-14
• Last updated: 2023-11-14