Fascioscapulohumeral Muscular DystrophyFSHDNCT06785428
Dietary Protein Requirements in Adults With Facioscapulohumeral Muscular Dystrophy
A study testing Amino Acid Intake in people with Fascioscapulohumeral Muscular Dystrophy, run by McGill University at 2 sites in Canada.
Trial summary
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting about 4 out of 100,000 individuals. The disease is characterized by progressive muscle loss (i.e., muscle atrophy) commonly affecting the face, shoulders, and upper arm muscles. Read more about this study
- Who is it for?
- Ages 26 to 60 years
- Conditions the study is for
- Fascioscapulohumeral Muscular Dystrophy
- What is being tested?
- Amino Acid Intake
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 2 sitesCanada
- Study dates
- 19 Jan 2025to 26 Apr 2026
- Phase
- Interventional
- 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 26 to 60 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- Adult female or male participants who are 26 to 60 years of age at screening (inclusive)
- Genetically confirmed with FSHD
- Ambulatory
- Has maintained stable use of medication and supplements, stable dietary and lifestyle habits, and stable body weight, for the last 3 months prior to screening and agree to maintain them throughout the study
- Willing and able to agree to the requirements and restrictions of this study, be willing to give voluntary consent, be able to understand and read the questionnaires, and carry out all study-related procedures
Who cannot join
- Individuals who are lactating or pregnant
- Usage of corticosteroids within 3 months of study entry or had ever taken steroids for a duration exceeding 1 year
- On androgens or growth hormone within 6 months before screening and for duration of study; topical physiologic androgen replacement is permitted
- On sympathomimetic agents, antidepressants, or β-receptor blockers
- Have cardiovascular disease
- Evidence of an alternative diagnosis other than FSHD or a coexisting myopathy or dystrophy
Show all 14Show fewer
- Current/active malignancy (e.g., remission less than 5 years' duration), with the exception of fully excised or treated basal cell carcinoma, cervical carcinoma in-situ, or ≤ 2 squamous cell carcinomas of the skin
- Type 1 or type 2 diabetes mellitus
- History of sensitivity to protein pharmaceuticals
- Known active substance abuse, including alcohol
- Renal impairment (serum creatinine ≥ 2 times the upper limit of normal,(ULN))
- History of severe restrictive or obstructive lung disease, or evidence for interstitial lung disease on screening chest radiograph
- Major surgery within 4 weeks prior to metabolic trial 1
- Any other active or unstable medical/psychological conditions or use of medications/supplements/therapies that, in the opinion of the investigator, may adversely affect the participant's ability to complete the study or its measures or pose a significant risk to the participant.
Trial locations and contacts
2 sites in 1 country.
Canada2 sites
McGill university
Montreal, Quebec, H2W 1S4
McGill university
Montreal, Quebec, H3A 0G4
About this study
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting about 4 out of 100,000 individuals. The disease is characterized by progressive muscle loss (i.e., muscle atrophy) commonly affecting the face, shoulders, and upper arm muscles. The muscle loss ultimately results in reduced strength and impaired physical performance. At present there is no cure for FSHD, therefore, physicians have focused on therapeutic interventions to help alleviate these symptoms.
Daily consumption of adequate amounts of dietary protein is essential to support muscle mass maintenance and overall health and function across the lifespan. However, previous research has reported inadequate protein intake in individuals with FSHD. The characteristic of progressive muscle loss in individuals with FSHD and other muscular dystrophies is ultimately due to an imbalance in the rate of muscle building (i.e., muscle protein synthesis) and muscle breakdown (i.e., muscle protein breakdown), where individuals with FSHD have been shown to have reduced rates of muscle building. As inadequate protein intake is known to result in a loss of muscle mass, strength and function, this loss may be amplified in individuals with FSHD.
Read more
Dietary recommendations traditionally have been determined through nitrogen balance techniques, where the current recommended dietary allowance (RDA) for daily protein intake for adults is 0.8 g/kg/d. However, recent research indicates how the nitrogen balance technique potentially underestimates protein requirements. Therefore, there is a need to reassess current dietary recommendations in adults with FSHD in order to help support the maintenance of muscle strength and function.
Recent efforts to understand protein requirements in various populations have been completed using the indicator amino acid oxidation technique (IAAO). This non-invasive method is reported to provide a robust measure of protein requirements. Due to its non-invasive nature, the IAAO method allows researchers to use this technique in individuals with FSHD, where there is currently limited work in studying this population.
The purpose of this study is to measure the protein requirements in individuals with FSHD using the non-invasive IAAO technique.
- Conditions
- Fascioscapulohumeral Muscular Dystrophy
- Being tested
- Amino Acid Intake
- Keywords
- Protein requirements, Facioscapulohumeral muscular dystrophy, Indicator amino acid oxidation technique
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Amino Acid IntakeDietary supplement
Amino acid intakes will vary between 0.2 to 2.8 g/kg/d.
| Study group | Role | What they receive |
|---|---|---|
| Individuals with FSHD | Experimental | Participants are to be randomly assigned varying levels of amino acid intakes ranging between 0.2 to 2.8 g/kg/d. Receives: Dietary Supplement: Amino Acid Intake |
What is being measured
The primary outcome is the main question the study is designed to answer.
13CO2 Excretion
Measured by continuous-flow isotope ratio mass spectrometry
Measured: 7-weeks
Secondary outcomes (1)
L-[13C]-Phenylalanine Oxidation
Measured by gas chromatography-mass spectrometry
Measured: 7-weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jan 2025
- Study start19 Jan 2025
- Primary completion26 Apr 2026
- Study completion26 Apr 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fascioscapulohumeral Muscular DystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
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 N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- McGill University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Tyler Churchward-Venne, McGill University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06785428
- Sponsor's protocol ID
- A06-M33-23B
- Acronym
- FSHD
- Status last verified
- Apr 2026
- First submitted
- 16 Jan 2025
- Last updated
- 9 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dietary Protein Requirements in Adults With Facioscapulohumeral Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT06785428
- Acronym / sponsor ID
- FSHD / A06-M33-23B
- Conditions
- Fascioscapulohumeral Muscular Dystrophy
- Keywords
- Protein requirements, Facioscapulohumeral muscular dystrophy, Indicator amino acid oxidation technique
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 10 participants (actual)
- Lead sponsor
- McGill UniversityUniversity, hospital or other
- Study start
- 19 Jan 2025 (actual)
- Primary completion
- 26 Apr 2026 (actual)
- Study completion
- 26 Apr 2026 (actual)
- First posted
- 21 Jan 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting about 4 out of 100,000 individuals. The disease is characterized by progressive muscle loss (i.e., muscle atrophy) commonly affecting the face, shoulders, and upper arm muscles. The muscle loss ultimately results in reduced strength and impaired physical performance. At present there is no cure for FSHD, therefore, physicians have focused on therapeutic interventions to help alleviate these symptoms.
Daily consumption of adequate amounts of dietary protein is essential to support muscle mass maintenance and overall health and function across the lifespan. However, previous research has reported inadequate protein intake in individuals with FSHD. The characteristic of progressive muscle loss in individuals with FSHD and other muscular dystrophies is ultimately due to an imbalance in the rate of muscle building (i.e., muscle protein synthesis) and muscle breakdown (i.e., muscle protein breakdown), where individuals with FSHD have been shown to have reduced rates of muscle building. As inadequate protein intake is known to result in a loss of muscle mass, strength and function, this loss may be amplified in individuals with FSHD.
Dietary recommendations traditionally have been determined through nitrogen balance techniques, where the current recommended dietary allowance (RDA) for daily protein intake for adults is 0.8 g/kg/d. However, recent research indicates how the nitrogen balance technique potentially underestimates protein requirements. Therefore, there is a need to reassess current dietary recommendations in adults with FSHD in order to help support the maintenance of muscle strength and function.
Recent efforts to understand protein requirements in various populations have been completed using the indicator amino acid oxidation technique (IAAO). This non-invasive method is reported to provide a robust measure of protein requirements. Due to its non-invasive nature, the IAAO method allows researchers to use this technique in individuals with FSHD, where there is currently limited work in studying this population.
The purpose of this study is to measure the protein requirements in individuals with FSHD using the non-invasive IAAO technique.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Individuals with FSHD | Experimental | Dietary Supplement: Amino Acid IntakeParticipants are to be randomly assigned varying levels of amino acid intakes ranging between 0.2 to 2.8 g/kg/d. |
Who may qualify
- Ages
- 26 to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (5 listed)
- Adult female or male participants who are 26 to 60 years of age at screening (inclusive)
- Genetically confirmed with FSHD
- Ambulatory
- Has maintained stable use of medication and supplements, stable dietary and lifestyle habits, and stable body weight, for the last 3 months prior to screening and agree to maintain them throughout the study
- Willing and able to agree to the requirements and restrictions of this study, be willing to give voluntary consent, be able to understand and read the questionnaires, and carry out all study-related procedures
Key exclusion criteria (14 listed)
- Individuals who are lactating or pregnant
- Usage of corticosteroids within 3 months of study entry or had ever taken steroids for a duration exceeding 1 year
- On androgens or growth hormone within 6 months before screening and for duration of study; topical physiologic androgen replacement is permitted
- On sympathomimetic agents, antidepressants, or β-receptor blockers
- Have cardiovascular disease
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Amino Acid IntakeAmino acid intakes will vary between 0.2 to 2.8 g/kg/d. | Dietary supplement | Individuals with FSHD |
Primary outcome
13CO2 Excretion
Time frame: 7-weeks
Measured by continuous-flow isotope ratio mass spectrometry
1 secondary outcome
L-[13C]-Phenylalanine Oxidation
Time frame: 7-weeks
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jul 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Amino Acid Intake in people with Fascioscapulohumeral Muscular Dystrophy, run by McGill University at 2 sites in Canada.
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 5 inclusion and 14 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: finished, as of the sponsor's last update on 9 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
13CO2 Excretion (time frame: 7-weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 9 Jul 2026.