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Comparison of Atherogenic Risk Factors and Efficacy of Nutritional Treatment Among Adult Phenylketonuria Patients

NCT04969809 · Status: NOT_YET_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 50

Last updated 2021-07-21

No results posted yet for this study

Summary

Phenylketonuria is a rare metabolic disease that results from the absence or near-absence activity of the enzyme phenylalanine hydroxylase, which metabolizes the amino acid phenylalanine to tyrosine in the body. Accumulation of phenylalanine in the brain causes brain damage that leads to mental retardation, neurological complications, and movement disorders.

The study is inherited autosomal recessively. The basis of treatment is a low-protein diet with dietary supplements of aminoxlin without phenylalanine and with appropriate substitutes for micro and macronutrients needed for different ages. A low-protein diet regulates the level of phenylalanine in the blood. This is especially important in childhood.

In the study, which will basically consist of theoretical, experimental and numerical work, the investigators will limit to a specific population, i.e. to adult patients with phenylketonuria. The research is intended to prove the hypothesis that with proper nutritional treatment of phenylketonuria in adulthood, we can have a positive effect on the patient's well-being, better blood results and improved lifestyle.

The investigators intend to test this hypothesis by implementing a complex, multidisciplinary project that will include a comprehensive treatment of adult PKU patients. This will be based on a multidisciplinary approach with the inclusion of medical and nutritional treatment. As part of the project, the investigators, among other things, create questionnaires and analyze food diaries related to the mentioned areas.

Using various statistical techniques, the investigators analyze the impact of individual factors on the success of achieving the objectives of the proposed study. The original contribution to science will be the nutritional treatment of adult patients with phenylketonuria in Slovenia and the consequent reduction of health complications in adulthood of patients with phenylketonuria.

Conditions

  • Phenylketonurias
  • Nutritional and Metabolic Diseases

Interventions

DIAGNOSTIC_TEST

Ultrasound of the jugular veins

Ultrasound of the jugular veins to assess the thickness of the carotid intima media

DIETARY_SUPPLEMENT

addition of phenylalanine-free protein substitutes

addition of phenylalanine-free protein substitutes for sufficient daily intake of essential amino acids and other vitamins and minerals and nutritional plan

Sponsors & Collaborators

  • University Medical Centre Ljubljana

    lead OTHER

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
SINGLE
Model
PARALLEL

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-09-01
Primary Completion
2026-09-01
Completion
2026-09-01

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04969809 on ClinicalTrials.gov