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

NCT06900335 | Completed

• 1 other identifier: 2025/5022
• Study Type: observational
• Target: 101
• Locations: 1 country
• Sites: 1

Brief 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). 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.

Conditions

Prader Willi Syndrome; Hyperphagia; Behavior Disorders

Keywords

Neuroimage; Artificial Intelligence; Prader-Willi Syndrome

Outcome Measures

Primary Outcomes (1)

• Functional connectivity patterns

  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).

Study Arms (3)

Patients with PWS

Adult (\>18 y.o.) patients with genetically confirmed diagnosis of Prader-Willi syndrome.

Drug: GH treatment (Somatropin); Behavioral: Eating

Healthy controls

Age and sex matched healthy controls

Behavioral: Eating

Obese controls

Age and sex matched controls with obesity (BMI \> 30)

Behavioral: Eating

Interventions

GH treatment (Somatropin) DRUG

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

Patients with PWS

Eating BEHAVIORAL

Allowing patients to break fasting.

Healthy controls; Obese controls; Patients with PWS

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Corporacion Parc Tauli: lead

Study Sites (1)

Consorci Corporació Sanitària Parc Taulí

Sabadell, Barcelona, 08202, Spain

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Neuroimages of fMRI.

MeSH Terms

Conditions

Prader-Willi Syndrome; Hyperphagia; Mental Disorders

Interventions

Human Growth Hormone; Eating

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders; Obesity; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Signs and Symptoms, Digestive; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Growth Hormone; Pituitary Hormones, Anterior; Pituitary Hormones; Peptide Hormones; Hormones; Hormones, Hormone Substitutes, and Hormone Antagonists; Peptides; Amino Acids, Peptides, and Proteins; Nutritional Physiological Phenomena; Diet, Food, and Nutrition; Physiological Phenomena; Digestive System Physiological Phenomena; Digestive System and Oral Physiological Phenomena

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: March 21, 2025
• First Posted: March 28, 2025
• Study Start: March 1, 2025
• Primary Completion: March 15, 2025
• Study Completion: March 15, 2025
• Last Updated: April 1, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

ES (1)