Functional Connectome in Prader-Willi Syndrome: Neuroimaging and AI to Assess Therapeutic Impact

The goal of this observational study is to explore brain network changes and identify patterns related to hyperphagia, hormonal treatment effects, and cognitive deficits in adults with Prader-Willi Syndrome (PWS). The main questions it aims to answer are:

* How are brain connectivity patterns altered in PWS patients compared to healthy and obese controls? * How do brain network changes relate to hyperphagia and the response to growth hormone therapy?

Researchers will compare PWS patients to healthy and obese controls to see if there are significant differences in brain network connectivity before and after meals and growth hormone therapy. Ultimately, researchers will try to develop predictive models of treatment outcomes using AI and machine learning.

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Key information

Conditions

Prader Willi Syndrome Abnormalities, Multiple Behavior Disorders Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hyperphagia Imprinting Disorders Intellectual Disability Mental Disorders Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Nutrition Disorders Nutritional and Metabolic Diseases Obesity Overnutrition Overweight Pathological Conditions, Signs and Symptoms Prader-Willi Syndrome Signs and Symptoms Signs and Symptoms, Digestive

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Consorci Corporació Sanitària Parc Taulí

Sabadell, Barcelona, 08202, Spain

About this study

Prader-Willi Syndrome (PWS) is a rare genetic condition marked by issues like constant hunger, obesity, hormonal imbalances, and cognitive difficulties. While studies have shown changes in brain connectivity in PWS patients, a complete understanding of these changes is still lacking. This project aims to explore brain network patterns in PWS using advanced AI techniques to better understand the impact of hyperphagia, hormonal treatments, and cognitive challenges.

This study will combine data from brain functional magnetic ressonance imaging (fMRI)), genetic data, hormonal levels, and clinical details; of 39 adults with PWS and 82 control participants (including 52 healthy and 30 obese controls). All participants are matched for age, sex, and BMI where applicable.

fMRI data has been obtained before and after meals, and/or before and after one year of growth hormone therapy.

Data quality will be assessed and summarize it using averages or percentages. Then, groups will be statistically compared to detect patterns related to hyperphagia and GH therapy.

Regarding Brain Connectivity, data from patients and controls will be compared, tracking how brain networks change after meals/GH therapy and applying advanced statistical methods to control errors.

Finally, using AI, models to predict treatment outcomes and brain network changes will be developed. These models will be tested and refined using different techniques to ensure reliability.

With this research, expected results are to identify unique brain patterns in PWS, uncover how these relate to symptoms like hyperphagia, and develop AI models to predict treatment outcomes. Ultimately, this research aims to improve our understanding of PWS and help develop better treatments.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Genetically confirmed diagnosis of Prader-Willi Syndrome.
Age older than 18 years old.

Exclusion criteria

Age younger than 18 years old.
Contraindications for fMRI.
Visual defects.

Treatment and study plan

GH treatment (Somatropin)

Drug

Treatment with Somatropin (recombinant GH), with doses starting from 0.2 mg/day and adjusted as necessary.

Eating

Behavioral

Allowing patients to break fasting.

Primary outcomes

Functional connectivity patterns

Time frame: Before and after the intervention (immediately after the end of the intervention for hunger, up to a year for GH).

Brain connectivity patterns, particularly those related to hyperphagia and the response to growth hormone therapy in the case of PWS patients.

Sponsors and collaborators

Lead sponsor

Corporacion Parc Tauli

Other

Registry information

Official study title

Characterization of the Functional Connectome in Prader-Willi Syndrome: Integrating Neuroimaging and Artificial Intelligence to Assess the Impact of Physiological and Therapeutic Interventions

Important dates

Study start: 2025
Primary completion: 2025
Study completion: 2025
First posted: Mar 28, 2025
Registry last updated: Apr 1, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed