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Clinical Trial Details — Status: Not yet recruiting

Administrative data

NCT number NCT06130228
Other study ID # 17004
Secondary ID
Status Not yet recruiting
Phase Phase 2
First received
Last updated
Start date April 1, 2024
Est. completion date April 1, 2025

Study information

Verified date November 2023
Source McMaster University
Contact Mark A Tarnopolsky, MD/PhD
Phone 9055212100
Email tarnopol@mcmaster.ca
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Not yet recruiting
Enrollment 28
Est. completion date April 1, 2025
Est. primary completion date September 1, 2024
Accepts healthy volunteers No
Gender All
Age group 21 Years to 90 Years
Eligibility 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

Study Design


Intervention

Dietary Supplement:
Multi-ingredient supplement (PDT-MIS)
Supplementation with active PDT-MIS daily
Placebo (PLA)
Supplementation with inactive placebo

Locations

Country Name City State
n/a

Sponsors (1)

Lead Sponsor Collaborator
McMaster University

Outcome

Type Measure Description Time frame Safety issue
Other Percent change in malondialdehyde levels in blood Malondialdehyde levels (ng/mL) Baseline to 4 months
Other Percent change in Oxygen Radical Absorbance Capacity in blood Oxygen Radical Absorbance Capacity (relative fluorescence units) Baseline to 4 months
Other Percent change in interleukin 6 levels in blood interleukin 6 levels (pg/dL) Baseline to 4 months
Other Percent change in interleukin 1 levels in blood interleukin 1 levels (pg/dL) Baseline to 4 months
Other Percent change in interleukin 10 levels in blood interleukin 10 levels (pg/dL) Baseline to 4 months
Other Percent change in tumor necrosis factor alpha levels in blood tumor necrosis factor alpha (pg/dL) Baseline to 4 months
Other Percent change in c-reactive protein levels in blood c-reactive protein levels (mg/dL) Baseline to 4 months
Primary Percent change in the body composition index by DEXA analyses Body composition index (lean mass/fat mass ratio) Baseline to 4 months
Primary Percent change in seated pulmonary function by spirometry Seated forced expiratory volume/forced vital capacity ratio (FEV1/FVC) Baseline to 4 months
Primary Percent change in supine pulmonary function by spirometry Supine forced expiratory volume/forced vital capacity ratio (FEV1/FVC) Baseline to 4 months
Primary Percent change in 6-minute walking test distance 6-minute walking test distance (meters) Baseline to 4 months
Secondary Percent change in health-related quality of life by SF-36 Survey 36-item short form survey (ranging from low 0 to high 100) Baseline to 4 months
Secondary Percent change in health-related quality of life by Rotterdam Handicap Score Rotterdam Handicap Score (ranging from low 9 to high 36) Baseline to 4 months
Secondary Percent change in health-related quality of life by the R-Pact Questionnaire Rasch-built Pompe-specific Activity (ranging from low 0 to high 100 points) Baseline to 4 months
Secondary Percent change in maximal grip strength by dynamometry Maximal grip strength (kilogram) Baseline to 4 months
Secondary Percent change in isometric leg strength by Biodex Isometric leg strength (newton meters) Baseline to 4 months
Secondary Percent change in leg strength by 4-step stair climb test 4-step stair climb time (seconds) Baseline to 4 months
Secondary Percent change in lower extremity functioning by short physical performance battery (SPPB) Short physical performance battery (ranging from low 0 to high 12) Baseline to 4 months
Secondary Percent change in lower extremity functioning by timed get up and go test (TUG) Timed get up and go test (seconds) Baseline to 4 months
Secondary Percent change in total muscle glycogen by ELISA Total muscle glycogen (ug per mg of tissue) Baseline to 4 months
Secondary Percent change in lysosomal glycogen in muscle by high-resolution light microscopy Lysosomal glycogen (% total muscle area) Baseline to 4 months
Secondary Percent change in autophagic area in muscle by electron microscopy Autopgahic area (% total muscle area) Baseline to 4 months
Secondary Percent change in p62 expression in muscle by Western blotting p62 expression (optical density) Baseline to 4 months
Secondary Percent change in complex I-V expression in muscle by Western blotting Complex I-V expression (optical density) Baseline to 4 months
Secondary Percent change in 4-hydroxynonenal levels in muscle by Western blotting 4-hydroxynonenal levels (optical density) Baseline to 4 months
Secondary Percent change in galactin-3 expression in muscle by Western blotting Galactin-3 expression (optical density) Baseline to 4 months
Secondary Percent change in superoxide dismutase 1 expression in muscle by Western blotting Superoxide dismutase 1 expression (optical density) Baseline to 4 months
Secondary Percent change in superoxide dismutase 2 expression in muscle by Western blotting Superoxide dismutase 2 expression (optical density) Baseline to 4 months
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