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

March 27, 2025 updated by: Assumpta Caixas, Corporacion Parc Tauli

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

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.

Study Type

Observational

Enrollment (Actual)

101

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Spain
    • Barcelona
      • Sabadell, Barcelona, Spain, 08202
        • Consorci Corporació Sanitària Parc Taulí

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Adult (>18 y.o.) patients with PWS were selected from a cohort of patients who receive medical attention and follow-up at our hospital. Controls were also selected from hospital patients.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Healthy controls
Age and sex matched healthy controls
Behavioral: Eating
Allowing patients to break fasting.
Patients with PWS
Adult (>18 y.o.) patients with genetically confirmed diagnosis of Prader-Willi syndrome.
Drug: GH treatment (Somatropin)
Treatment with Somatropin (recombinant GH), with doses starting from 0.2 mg/day and adjusted as necessary.
Behavioral: Eating
Allowing patients to break fasting.
Obese controls
Age and sex matched controls with obesity (BMI > 30)
Behavioral: Eating
Allowing patients to break fasting.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Before and after the intervention (immediately after the end of the intervention for hunger, up to a year for GH).

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Corporacion Parc Tauli

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 1, 2025

Primary Completion (Actual)

March 15, 2025

Study Completion (Actual)

March 15, 2025

Study Registration Dates

First Submitted

March 21, 2025

First Submitted That Met QC Criteria

March 27, 2025

First Posted (Actual)

March 28, 2025

Study Record Updates

Last Update Posted (Actual)

April 1, 2025

Last Update Submitted That Met QC Criteria

March 27, 2025

Last Verified

March 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2025/5022

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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