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Pompe DiseasePhase 2PDT-MISNCT06130228

Nutritional Therapy in Late-onset Pompe Disease

A Phase 2 study testing Multi-ingredient supplement (PDT-MIS) in people with Pompe Disease and Muscle Loss, run by McMaster University.

Unknown status

Status not confirmed. The sponsor has not verified this record for over two years, so it may be out of date.

Official record
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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. Read more about this study

Who is it for?
Ages 21 to 90 years
Conditions the study is for
Pompe Disease, Muscle Loss, Obesity
What is being tested?
Multi-ingredient supplement (PDT-MIS)
Could I receive a placebo?
Yes, some participants may receive a placebo
How many people
28 participants
Where
No sites listed yet
Study dates
1 Apr 2024to 1 Apr 2025
Phase
Phase 2
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 21 to 90 years
  • All sexes
  • No healthy volunteers
  • Adult, Older adult

Who may be able to join

  • 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.

Who cannot join

  • Dairy protein allergy
  • Renal disease (creatinine > 140)
  • Attempting pregnancy or currently pregnant
  • Current supplementation

Trial locations and contacts

No sites are listed yet.

Mark A Tarnopolsky, MD/PhD contact

9055212100 ext. 76593

tarnopol@mcmaster.ca

Mats I Nilsson, PhD contact

9055252100 ext. 76680

nilsson@mcmaster.ca

About this study

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

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.

Read the 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.

Being tested
Multi-ingredient supplement (PDT-MIS), Placebo (PLA)
Keywords
Muscle, Supplements, Antioxidants, Whey, Casein, Vitamin D, Creatine, Calcium, Omega-3, Green coffee bean, Green tea, CoQ10, Alpha-lipoic acid, Vitamin E, Weight loss, Obesity, Muscle strength, 6-meter walk test, Pompe disease, Oxidative stress
Medical subject headings
Glycogen Storage Disease Type II, Muscular Atrophy, Obesity, Malnutrition, Lysosomal Storage Diseases, Weight Loss

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Multi-ingredient supplement (PDT-MIS)Dietary supplement

    Supplementation with active PDT-MIS daily

  • Placebo (PLA)Dietary supplement

    Supplementation with inactive placebo

Study groups in NCT06130228
Study groupRoleWhat they receive
Multi-ingredient supplement (PDT-MIS)ExperimentalMulti-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.
Receives: Dietary Supplement: Multi-ingredient supplement (PDT-MIS)
Placebo (PLA)Placebo comparatorPlacebo (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.
Receives: Dietary Supplement: Placebo (PLA)

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Percent change in the body composition index by DEXA analyses

    Body composition index (lean mass/fat mass ratio)

    Measured: Baseline to 4 months

  2. Percent change in seated pulmonary function by spirometry

    Seated forced expiratory volume/forced vital capacity ratio (FEV1/FVC)

    Measured: Baseline to 4 months

  3. Percent change in supine pulmonary function by spirometry

    Supine forced expiratory volume/forced vital capacity ratio (FEV1/FVC)

    Measured: Baseline to 4 months

  4. Percent change in 6-minute walking test distance

    6-minute walking test distance (meters)

    Measured: Baseline to 4 months

Secondary outcomes (17)

  1. Percent change in health-related quality of life by SF-36 Survey

    36-item short form survey (ranging from low 0 to high 100)

    Measured: Baseline to 4 months

  2. Percent change in health-related quality of life by Rotterdam Handicap Score

    Rotterdam Handicap Score (ranging from low 9 to high 36)

    Measured: Baseline to 4 months

  3. 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)

    Measured: Baseline to 4 months

  4. Percent change in maximal grip strength by dynamometry

    Maximal grip strength (kilogram)

    Measured: Baseline to 4 months

  5. Percent change in isometric leg strength by Biodex

    Isometric leg strength (newton meters)

    Measured: Baseline to 4 months

  6. Percent change in leg strength by 4-step stair climb test

    4-step stair climb time (seconds)

    Measured: Baseline to 4 months

  7. Percent change in lower extremity functioning by short physical performance battery (SPPB)

    Short physical performance battery (ranging from low 0 to high 12)

    Measured: Baseline to 4 months

  8. Percent change in lower extremity functioning by timed get up and go test (TUG)

    Timed get up and go test (seconds)

    Measured: Baseline to 4 months

  9. Percent change in total muscle glycogen by ELISA

    Total muscle glycogen (ug per mg of tissue)

    Measured: Baseline to 4 months

  10. Percent change in lysosomal glycogen in muscle by high-resolution light microscopy

    Lysosomal glycogen (% total muscle area)

    Measured: Baseline to 4 months

  11. Percent change in autophagic area in muscle by electron microscopy

    Autopgahic area (% total muscle area)

    Measured: Baseline to 4 months

  12. Percent change in p62 expression in muscle by Western blotting

    p62 expression (optical density)

    Measured: Baseline to 4 months

  13. Percent change in complex I-V expression in muscle by Western blotting

    Complex I-V expression (optical density)

    Measured: Baseline to 4 months

  14. Percent change in 4-hydroxynonenal levels in muscle by Western blotting

    4-hydroxynonenal levels (optical density)

    Measured: Baseline to 4 months

  15. Percent change in galactin-3 expression in muscle by Western blotting

    Galactin-3 expression (optical density)

    Measured: Baseline to 4 months

  16. Percent change in superoxide dismutase 1 expression in muscle by Western blotting

    Superoxide dismutase 1 expression (optical density)

    Measured: Baseline to 4 months

  17. Percent change in superoxide dismutase 2 expression in muscle by Western blotting

    Superoxide dismutase 2 expression (optical density)

    Measured: Baseline to 4 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted14 Nov 2023
  2. Study start1 Apr 2024 (estimated)
  3. Primary completion1 Sep 2024 (estimated)
  4. Study completion1 Apr 2025 (estimated)

Resources

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 2
Primary purpose
Treatment
Allocation
Randomised
Intervention model
Parallel groups
Model description
The present study is a 4-month randomized double-blind, placebo controlled, clinical trial with two treatments arms and groups (PDT-MIS and PLA).
Masking
Triple blind
Who is masked
Participant, Care provider, Investigator
Enrolment
28 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT06130228
Sponsor's protocol ID
17004
Acronym
PDT-MIS
Status last verified
Nov 2023
First submitted
8 Nov 2023
Last updated
14 Nov 2023
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Questions about this trial

What is this clinical trial studying?

A Phase 2 study testing Multi-ingredient supplement (PDT-MIS) in people with Pompe Disease and Muscle Loss, run by McMaster University.

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 3 inclusion and 4 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: status not confirmed, as of the sponsor's last update on 14 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.

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.

What does this phase mean?

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

Results are not available in the source record.

How can a doctor refer a patient or contact the research team?

Contact Mark A Tarnopolsky, MD/PhD (9055212100 ext. 76593, tarnopol@mcmaster.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Percent change in the body composition index by DEXA analyses (time frame: Baseline to 4 months). The study lists 4 primary outcomes in all. 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 NCT06130228.

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 14 Nov 2023.

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