Proof of Concept Creatine Supplementation for Homocystinuria Study

NCT06495567 | Active Not Recruiting

• 1 other identifier: H23-02515
• Study Type: interventional
• Target: 9
• Locations: 1 country
• Sites: 1

Brief Summary

Homocystinuria is a rare and inherited metabolic disorder, people with this condition don't have an enzyme needed to break down an amino acid called homocysteine. When the body can't break down the homocysteine made from another amino acid methionine, it becomes toxic to the heart, brain, and bones. We are constantly eating methionine, a building block of protein, so a common treatment is eating a low-protein diet with medical foods and vitamin pills. This can be hard to follow due to bad tastes and missing out on foods a person enjoys, especially in children. The goal of this study is to provide participants with a supplement containing creatine, another amino acid related to methionine and homocysteine, and learn if it lowers homocysteine production in healthy adult men. We would ultimately like to see if creatine supplements are a potential alternate treatment of Homocystinuria in this proof of concept study, before studying individuals with the condition. Researchers in this study want to know:

• How does the bodies digestion of isotope methionine change in breath and urine when creatine is taken in healthy young adult men?
• How do levels of homocysteine, methionine and related metabolites change in the blood when creatine is taken by healthy young adult men? Participants will:
• Complete two (2), 8-hour study days on-site.
• Eat a lower protein diet for one (1) week before the first study day, and eat a lower protein diet with creatine supplements for one (1) week before the second study day.
• During both study days eat special hourly meals of controlled amino acids and nutrients, along with a methionine isotope. (An isotope is a stable labelled amino acid that is colourless, odorless, tasteless, and safe for consumption. In the lab we can detect this isotope in breath and urine samples collected during the study day).
• Provide samples of breath, urine and blood. (Researchers will also take body measurements (height weight), and use non-invasive tests to measure body composition and energy needs).

Conditions

Homocystinuria

Outcome Measures

Primary Outcomes (1)

• Carbon 13 Oxidation

  Urine and breath samples will be collected to measure the rate of L-\[1-13C\]methionine oxidation

  8 hours

Study Arms (2)

Baseline - no creatine supplementation

EXPERIMENTAL

Each participant will complete a baseline study day. For 7 days prior to the study day each participant will eat a controlled diet of 1g protein/kg body weight/day.

Dietary Supplement: Dietary methionine tracer and protein intake

Treatment - Creatine Supplementation 20mg

EXPERIMENTAL

Each participant will complete a supplemented study day. For 7 days prior to the study day each participant will eat a controlled diet of 1g protein/kg body weight/day, and the provided 20mg creatine supplement.

Dietary Supplement: Creatine; Dietary Supplement: Dietary methionine tracer and protein intake

Interventions

Creatine DIETARY_SUPPLEMENT

For 7 days, participants will take a 20mg creatine supplement each day.

Treatment - Creatine Supplementation 20mg

Dietary methionine tracer and protein intake DIETARY_SUPPLEMENT

On the study days participants will ingest 8 hourly meals of controlled amino acid intake, fortified with the necessary macronutrients. Each meal will provide one-twelfth of the participants' daily energy requirements as estimated by 1.5 x Resting Energy Expenditure (REE) and adequate protein at 1.0 g/kg/d, to maintain a metabolic steady state. The meals are in the form of a crystalline amino acid protein shake, and protein-free cookies.

Baseline - no creatine supplementation; Treatment - Creatine Supplementation 20mg

Eligibility Criteria

• Age: 19 Years - 40 Years
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)

You may qualify if:

• Cis-male
• Men who are classified as normal body weight and BMI (18.5-25kg/m2)
• Free of any concurrent illness (cold, flu, vomiting etc.)
• Not be claustrophobic (we will place a clear hood, which can easily be removed, over your head for approximately 20 min to measure your energy expenditure)
• Not be enrolled in any other research studies (as this may affect our study results)

You may not qualify if:

• Men not in good health or have a metabolic, neurological, genetic, or immune disorder, including diabetes, hypoglycemia, hypertension and current or past history of kidney disease
• Men who have food allergies/sensitivities/intolerances to egg, corn, diary etc.
• Men who have current or recent past history of ingesting creatine supplements
• Men who are smokers
• Men who are following a non-traditional dietary pattern (e.g. Keto diet, Atkins diet, paleo diet, intermittent fasting, strict vegan, calorie restricted diet etc.)

Sponsors & Collaborators

• University of British Columbia: lead

Study Sites (1)

BC Children's Hospital Research Institute, University of British Columbia

Vancouver, British Columbia, V5Z4H4, Canada

Location

MeSH Terms

Conditions

Homocystinuria

Interventions

Creatine

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hyperhomocysteinemia; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Guanidines; Amidines; Organic Chemicals; Amino Acids; Amino Acids, Peptides, and Proteins

Study Officials

• Rajavel Elango, PhD

  University of British Columbia

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: July 3, 2024
• First Posted: July 10, 2024
• Study Start: August 19, 2024
• Primary Completion: July 3, 2025
• Study Completion (Estimated): December 1, 2026
• Last Updated: February 12, 2026

Record last verified: 2026-02

Locations

CA (1)