Prader Willi SyndromeNCT06900335
Functional Connectome in Prader-Willi Syndrome: Neuroimaging and AI to Assess Therapeutic Impact
An observational study of Prader Willi Syndrome and Hyperphagia, run by Corporacion Parc Tauli at 1 site in Spain.
Trial summary
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). Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Prader Willi Syndrome, Hyperphagia, Behavior Disorders
- What is being tested?
- GH treatment (Somatropin) and Eating
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 101 participants
- Where
- 1 siteSpain
- Study dates
- 1 Mar 2025to 15 Mar 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- Genetically confirmed diagnosis of Prader-Willi Syndrome.
- Age older than 18 years old.
Who cannot join
- Age younger than 18 years old.
- Contraindications for fMRI.
- Visual defects.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the 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.
- Conditions
- Prader Willi Syndrome, Hyperphagia, Behavior Disorders
- Being tested
- GH treatment (Somatropin), Eating
- Keywords
- Neuroimage, Artificial Intelligence, Prader-Willi Syndrome
- Medical subject headings
- Prader-Willi Syndrome, Hyperphagia, Mental Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GH treatment (Somatropin)Drug
Treatment with Somatropin (recombinant GH), with doses starting from 0.2 mg/day and adjusted as necessary.
EatingBehavioural
Allowing patients to break fasting.
| Study group | Role | What they receive |
|---|---|---|
| Patients with PWS | Adult (>18 y.o.) patients with genetically confirmed diagnosis of Prader-Willi syndrome. Receives: Drug: GH treatment (Somatropin); Behavioral: Eating | |
| Healthy controls | Age and sex matched healthy controls Receives: Behavioral: Eating | |
| Obese controls | Age and sex matched controls with obesity (BMI > 30) Receives: Behavioral: Eating |
What is being measured
The primary outcome is the main question the study is designed to answer.
Functional connectivity patterns
Brain connectivity patterns, particularly those related to hyperphagia and the response to growth hormone therapy in the case of PWS patients.
Measured: Before and after the intervention (immediately after the end of the intervention for hunger, up to a year for GH).
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Mar 2025
- Study start1 Mar 2025
- Primary completion15 Mar 2025
- Study completion15 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Prader Willi SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 101 participants (actual)
Sponsor and investigators
- Lead sponsor
- Corporacion Parc Tauli
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Assumpta Caixas, Corporacion Parc Tauli
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06900335
- Sponsor's protocol ID
- 2025/5022
- Status last verified
- Mar 2025
- First submitted
- 21 Mar 2025
- Last updated
- 1 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of the Functional Connectome in Prader-Willi Syndrome: Integrating Neuroimaging and Artificial Intelligence to Assess the Impact of Physiological and Therapeutic Interventions
- ClinicalTrials.gov ID
- NCT06900335
- Acronym / sponsor ID
- 2025/5022
- Conditions
- Prader Willi Syndrome, Hyperphagia, Behavior Disorders
- Keywords
- Neuroimage, Artificial Intelligence, Prader-Willi Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 101 participants (actual)
- Lead sponsor
- Corporacion Parc TauliUniversity, hospital or other
- Study start
- 1 Mar 2025 (actual)
- Primary completion
- 15 Mar 2025 (actual)
- Study completion
- 15 Mar 2025 (actual)
- First posted
- 28 Mar 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Patients with PWS | – | Drug: GH treatment (Somatropin), Behavioral: EatingAdult (>18 y.o.) patients with genetically confirmed diagnosis of Prader-Willi syndrome. |
| Healthy controls | – | Behavioral: EatingAge and sex matched healthy controls |
| Obese controls | – | Behavioral: EatingAge and sex matched controls with obesity (BMI > 30) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- Genetically confirmed diagnosis of Prader-Willi Syndrome.
- Age older than 18 years old.
Key exclusion criteria (3 listed)
- Age younger than 18 years old.
- Contraindications for fMRI.
- Visual defects.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| GH treatment (Somatropin)Treatment with Somatropin (recombinant GH), with doses starting from 0.2 mg/day and adjusted as necessary. | Drug | Patients with PWS |
| EatingAllowing patients to break fasting. | Behavioural | Healthy controls, Obese controls, Patients with PWS |
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Apr 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Prader Willi Syndrome and Hyperphagia, run by Corporacion Parc Tauli at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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).). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Apr 2025.