Dietary Protein Requirements in Adults With Facioscapulohumeral Muscular Dystrophy

Phase

N/A

Condition

N/A

Treatment

Amino Acid Intake

Clinical Study ID

NCT06785428

A06-M33-23B

Ages 26-60
All Genders

Study 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. 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

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 andlifestyle habits, and stable body weight, for the last 3 months prior to screeningand agree to maintain them throughout the study
Willing and able to agree to the requirements and restrictions of this study, bewilling to give voluntary consent, be able to understand and read thequestionnaires, and carry out all study-related procedures

Exclusion

Exclusion Criteria:

Individuals who are lactating or pregnant
Usage of corticosteroids within 3 months of study entry or had ever taken steroidsfor a duration exceeding 1 year
On androgens or growth hormone within 6 months before screening and for duration ofstudy; 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 ordystrophy
Current/active malignancy (e.g., remission less than 5 years' duration), with theexception of fully excised or treated basal cell carcinoma, cervical carcinomain-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 forinterstitial 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 ofmedications/supplements/therapies that, in the opinion of the investigator, mayadversely affect the participant's ability to complete the study or its measures orpose a significant risk to the participant.

Study Design