Effects of short-term phenylalanine increases on brain and thinking in adult PKU carriers

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a double-blind, crossover study enrolling 18 genetically confirmed heterozygous PKU carriers and 18 non-carrier controls who each receive an oral phenylalanine dose and a placebo on separate visits. At each visit participants complete baseline, 2-hour, and 4-hour assessments including blood tests, MRI scans (resting-state and fMRI n-back working memory task), and a battery of cognitive tests. Brain and blood levels of phenylalanine and tyrosine will be measured at each timepoint to compare time courses between carriers and non-carriers. The repeated-measures design and genetic confirmation aim to detect acute neurophysiologic and cognitive effects of dietary Phe with higher rigor than prior work.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Age 18-60 years
* For the PKU carrier group: Individuals who are the parent of an individual with PKU or who are otherwise have confirmed PKU carrier status (e.g., a sibling of someone with PKU who has had genetic testing done)
* For the non-carrier group: Individuals who do not have PKU or a family history of PKU

Exclusion Criteria:

* Obesity as defined by a body mass index (BMI) over 30\*
* Taking oral contraceptives on the day of testing session\*
* Positive cotinine urine test showing nicotine use
* History of major neurologic condition (e.g., multiple sclerosis, severe closed head injury, Parkinson's disease)) unrelated to PKU and known to adversely impact brain health and function
* Contraindications for safe MRI participation such as (a) pregnancy or plans to become pregnant during period of study enrollment; or (b) metallic objects inside the body (e.g., surgical staples left in the body following surgery, middle ear prosthesis, metal foreign objects lodged inside the eye, heart pacemakers).

Where it's running

• University of Missouri-Columbia
  Columbia, Missouri, United States Recruiting

Study contacts

• Study coordinator: Shawn Christ
• Email: christse@missouri.edu
• Phone: 573-884-8140

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Do Quercefit® or Ubiqsome™ help with aging and metabolic health in adults 50–75?

  This study tests whether Quercefit® or Ubiqsome™ can improve aging markers, blood sugar, and heart health in sedentary adults aged 50–75 compared with a placebo.

  Recruiting Applied Science & Performance Institute · Tampa, Florida · NCT07760506

• NVTIA Ergothioneine for Healthy Aging and Skin Health

  This study tests whether taking NVTIA Ergothioneine daily for 12 weeks helps healthy adults age more gracefully and keeps skin looking and feeling better compared with a placebo.

  Recruiting European Life Science Research Association · Dhaka · NCT07750002

• Miricell supplementation and markers of healthy aging

  This trial tests whether taking Miricell once daily for 12 weeks improves cellular health and brain/metabolic indicators in adults aged 40–70 compared with a placebo.

  Recruiting Nutraland USA, Inc. · Canfield, Ohio · NCT07675200

• Does daily lean beef support brain health in older adults

  In healthy adults aged 65 and up, this study tests whether eating lean beef every day for two weeks can influence brain health markers compared with a non-beef, protein-matched option.

  Recruiting South Dakota State University · Brookings, South Dakota · NCT07623785

• Adaptive computerized training to boost thinking in healthy seniors and those with mild cognitive impairment

  This study tests whether a computer-based training program can improve executive thinking in older adults, including those with mild cognitive impairment, and see if it also helps memory and well-being.

  Recruiting at 2 sites Universidad Antonio de Nebrija · Madrid, Madrid and 1 other locations · NCT07598409

• SHARP: Personalized Health and Behavior Plan to Lower Biological Age in Older Adults

  A 12-month randomized trial tests whether a personalized health and behavior program can lower biological age and improve function in healthy adults over 50.

  Recruiting Sheba Medical Center · Ramat Gan, Tel Aviv · NCT07596576

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.