Nutritional Therapy in Late-onset Pompe Disease (PDT-MIS)

McMaster University

Status and phase: Not yet enrolling; Phase 2

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

Treatments: Dietary Supplement: Placebo (PLA); Dietary Supplement: Multi-ingredient supplement (PDT-MIS)

Study type: Interventional

Funder types: Other

Identifiers

NCT06130228

17004

Details and patient eligibility

About

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.

Full 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.

Enrollment: 28 estimated patients

Sex: All

Ages: 21 to 90 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: Triple Blind

---

28 participants in 2 patient groups, including a placebo group

Multi-ingredient supplement (PDT-MIS)

Experimental group

Description:

Multi-ingredient supplementation (PDT-MIS) consists of daily intake of high-quality proteins, creatine, vitamin D, calcium, plant extracts (green coffee bean, green tea, beet root, and forskolin), and Omega-3 fatty acids. Concurrent with supplementation, patients will do mixed rehabilitative exercise (cardio and strength) and respiratory muscle training four days a week.

Treatment:

Dietary Supplement: Multi-ingredient supplement (PDT-MIS)

Placebo (PLA)

Placebo Comparator group

Description:

Placebo (PLA) consists of daily intake of collagen, safflower, and microcrystalline cellulose. Concurrent with supplementation, patients will do mixed rehabilitative exercise (cardio and strength) and respiratory muscle training four days a week.

Treatment:

Dietary Supplement: Placebo (PLA)