Prader-Willi SyndromeCASSPERNCT06877715
Autistic Symptomatology and Sensory Profile in Children With Prader-Willi Syndrome
An observational study of Prader-Willi Syndrome, run by University Hospital, Toulouse at 1 site in France.
Trial summary
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder stemming from genetic damage in the 15q11-q13 region, leading to hypothalamic dysfunction. Individuals with PWS often exhibit social interaction challenges, intellectual deficits, significant eating disorders, mood disturbances, and sensory-related… Read more about this study
- Who is it for?
- Ages 3 to 16 years
- Conditions the study is for
- Prader-Willi Syndrome
- What is being tested?
- psychological and sensorial tests
- How many people
- 75 participants
- Where
- 1 siteFrance
- Study dates
- 7 Apr 2025to 30 Oct 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 3 to 16 years
- All sexes
- No healthy volunteers
- Child
Study population: The study population consists of children aged 3 to 16 years who have been diagnosed with Prader-Willi syndrome through genetic confirmation, recruited from several hospital centers in France.
Who may be able to join
- Child with genetically confirmed PWS and identification of genetic subtype;
- Child aged between 3 and 16 years;
- Hospitalisation or multidisciplinary consultation planned for the child's routine follow-up at one of the investigating centres;
- No parental/legal guardian objection.
Who cannot join
- Change in psychotropic treatment (start, change in dose or discontinuation) in the past 3 months;
- Inability to provide clear information to parents/legal guardian;
- Not covered by social security.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Children Hospital
Toulouse
Sophie Cabal, +33(0)5 34 55 74 32, cabal.s@chu-toulouse.fr
Julie CORTADELLAS, cortadellas.j@chu-toulouse.fr
About this study
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder stemming from genetic damage in the 15q11-q13 region, leading to hypothalamic dysfunction. Individuals with PWS often exhibit social interaction challenges, intellectual deficits, significant eating disorders, mood disturbances, and sensory-related autistic features. Although PWS is recognized by DSM-5 as a genetic cause of Autism Spectrum Disorder (ASD), ASD diagnosis in PWS remains rare in France. The CASSPER study aims to investigate the distinct autistic and sensory profiles in children with PWS, also analyzing the potential impact of early oxytocin treatment on these manifestations, in line with recommendations for early and tailored intervention.
Read the detailed description
Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder (NDD) with genetic origin linked to chromosomal damage in the 15q11-q13 region and characterised by hypothalamic dysfunction. At the psychiatric level, patients with PWS display difficulties in social interaction, mild to moderate intellectual deficit, major eating disorders, mood disorders and autistic manifestations, including hypo-/hyper-reactivity to sensory stimuli.
While the International Classification (DSM-5) lists PWS as one of the genetic causes of Autism Spectrum Disorder (ASD), little is known about the interaction between autistic traits, sensory features and PWS.
To date, assessment and diagnosis of ASD in PWS remains exceptional in standard care in France, despite the obvious importance of correct assessment for early identification and intervention.
In this context, the CASSPER study aims to identify the specificity of PWS in terms of autistic symptomatology and sensory characteristics. The CASSPER study is in line with the recommendations of the French National Health Authority (HAS) for early and appropriate guidance of children with PWS.
In addition, almost all children with PWS under the age of 5 have received early treatment with oxytocin (OT). As the neuromodulatory effect of OT treatment and the involvement of this neurohormone in the development of attachment, social interaction and sensory processing may explain a difference in autistic symptomatology, this parameter will be included in the analyses.
The CASSPER study aims to fill gaps in our knowledge of PWS and its care and could be useful more generally to improve our understanding of autistic manifestations in NDD of genetic origin.
- Conditions
- Prader-Willi Syndrome
- Being tested
- psychological and sensorial tests
- Keywords
- Prader-Willi syndrome, Autism Spectrum Disorder, Autistic Symptomatology, Sensory profile
- Medical subject headings
- Prader-Willi Syndrome, Autism Spectrum Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
psychological and sensorial testsOther
children receive questionnaires and sensorial test
| Study group | Role | What they receive |
|---|---|---|
| Children Aged 3 to 16 Years | Not described Receives: Other: psychological and sensorial tests |
What is being measured
The primary outcome is the main question the study is designed to answer.
Composite criteria : Autistic Symptomatology in Children with Prader-Willi Syndrome: Prevalence, Symptom Specificity, and Variability by Age and Genetic Subtype
The tests used are the ADOS-2 and ADI-R tests. The ADOS-2 test is used for evaluating the ASD symptoms. It consists of structured and semi-structured activities designed to assess communication, social interaction, play, and restricted or repetitive behaviors. The best possible score is 0, while the worst possible score is 10.
The other test is ADI-R. The ADI-R is a structured interview used to assess behaviors and developmental history related to ASD. The responses are scored to evaluate the presence and severity of ASD symptoms, helping to support the diagnosis.
Measured: day 1 to day 3
Secondary outcomes (4)
Composite criteria : Characterization of the sensory profile of children with PWS
The PIPS is a program designed to assess and support sensory processing differences in individuals, particularly those with autism. It helps identify sensory sensitivities and adapt interventions accordingly. The highest score is 140, and each modality has a maximum score of 20.
The ESA-EA is a sensory assessment tool specifically for individuals with autism.
The U-Sniff measures olfactory function by testing an individual's ability to identify specific odors.
Measured: day 1 to day 3
Composite criteria : Correlation Between Autistic Symptoms, Sensory Profile, and Cognitive-Behavioral Disorders, Including Eating Disorders
This study examines the correlation between autism disorder/sensory profile assessments (ADOS-2, ADI-R, PIPS, ESA-EA, U-Sniff test) and behavioral/cognitive assessments (Vineland-II, CBCL, Dykens questionnaire, IQ). The Vineland-II is a semi-structured interview assessing autonomy and adaptive skills.
The CBCL evaluates behavioral problems and social skills using a Likert scale, with T-scores indicating severity across clinical subscales.
The hyperphagia tool for Prader-Willi Syndrome uses a 5-point Likert scale to rate behaviors, calculating total scores and subscores for Hyperphagic Behavior, Drive, and Severity, along with a specific HQ-CT score for clinical trials. Higher scores indicate more severe symptoms in each tool.
Measured: day 1 to day 3
Composite criteria : Assessing the Impact of Autistic Symptomatology and Sensory Profile on Family Burden and Quality of Life
ZBI measures parents' perception of the burden associated with their child's disability, using a 5-point Likert scale ("0" = never, "4" = almost always). A total score is calculated by summing the 22 items, with higher scores indicating a greater burden.
IOFS explores the impact of a child's disability on the family's quality of life. Parents rate statements on a 4-point Likert scale ("strongly agree" = 1, "strongly disagree" = 4), and a total score is calculated after reversing scores. Higher scores reflect a greater impact on family quality of life.
Measured: day 1 to day 3
Composite criteria : comparison of Autistic Symptomatology, Sensory Profile, and Developmental Profile in 5-7 Year-Old Children: Early OT Treatment vs. Untreated
"In the 5-7 year age group, comparison of scores and subscores between the early OT-treated children group and the untreated children group regarding:
The specificity of autistic symptomatology (ADOS-2, ADI-R) Sensory profile (PIPS, ESA-EA, U-sniff test) Behavioral and cognitive profile (Vineland-II, CBCL, Dykens questionnaire, IQ) The impact of the condition (ZBI, IOFS)
Measured: day 1 to day 3
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Mar 2025
- Study start7 Apr 2025
- Primary completion30 Oct 2026 (estimated)
- Study completion30 Oct 2026 (estimated)
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.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- 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 only
- Time perspective
- Cross-sectional
- Enrolment
- 75 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Sophie Cabal, Principal investigator, University Hospital of Toulouse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06877715
- Sponsor's protocol ID
- RC31/24/0447
- Other IDs
- ID-RCB : 2025-A00085-44
- Acronym
- CASSPER
- Status last verified
- May 2025
- First submitted
- 10 Mar 2025
- Last updated
- 8 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Autistic Symptomatology and Sensory Profile in Children With Prader-Willi Syndrome
- ClinicalTrials.gov ID
- NCT06877715
- Acronym / sponsor ID
- CASSPER / RC31/24/0447
- Conditions
- Prader-Willi Syndrome
- Keywords
- Prader-Willi syndrome, Autism Spectrum Disorder, Autistic Symptomatology, Sensory profile
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 75 participants (estimated)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- 7 Apr 2025 (actual)
- Primary completion
- 30 Oct 2026 (estimated)
- Study completion
- 30 Oct 2026 (estimated)
- First posted
- 14 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.
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder stemming from genetic damage in the 15q11-q13 region, leading to hypothalamic dysfunction. Individuals with PWS often exhibit social interaction challenges, intellectual deficits, significant eating disorders, mood disturbances, and sensory-related autistic features. Although PWS is recognized by DSM-5 as a genetic cause of Autism Spectrum Disorder (ASD), ASD diagnosis in PWS remains rare in France. The CASSPER study aims to investigate the distinct autistic and sensory profiles in children with PWS, also analyzing the potential impact of early oxytocin treatment on these manifestations, in line with recommendations for early and tailored intervention.
Detailed description
Prader-Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder (NDD) with genetic origin linked to chromosomal damage in the 15q11-q13 region and characterised by hypothalamic dysfunction. At the psychiatric level, patients with PWS display difficulties in social interaction, mild to moderate intellectual deficit, major eating disorders, mood disorders and autistic manifestations, including hypo-/hyper-reactivity to sensory stimuli.
While the International Classification (DSM-5) lists PWS as one of the genetic causes of Autism Spectrum Disorder (ASD), little is known about the interaction between autistic traits, sensory features and PWS.
To date, assessment and diagnosis of ASD in PWS remains exceptional in standard care in France, despite the obvious importance of correct assessment for early identification and intervention.
In this context, the CASSPER study aims to identify the specificity of PWS in terms of autistic symptomatology and sensory characteristics. The CASSPER study is in line with the recommendations of the French National Health Authority (HAS) for early and appropriate guidance of children with PWS.
In addition, almost all children with PWS under the age of 5 have received early treatment with oxytocin (OT). As the neuromodulatory effect of OT treatment and the involvement of this neurohormone in the development of attachment, social interaction and sensory processing may explain a difference in autistic symptomatology, this parameter will be included in the analyses.
The CASSPER study aims to fill gaps in our knowledge of PWS and its care and could be useful more generally to improve our understanding of autistic manifestations in NDD of genetic origin.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Children Aged 3 to 16 Years | – | Other: psychological and sensorial tests |
Who may qualify
- Ages
- 3 to 16 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- The study population consists of children aged 3 to 16 years who have been diagnosed with Prader-Willi syndrome through genetic confirmation, recruited from several hospital centers in France.
Key inclusion criteria (4 listed)
- Child with genetically confirmed PWS and identification of genetic subtype;
- Child aged between 3 and 16 years;
- Hospitalisation or multidisciplinary consultation planned for the child's routine follow-up at one of the investigating centres;
- No parental/legal guardian objection.
Key exclusion criteria (3 listed)
- Change in psychotropic treatment (start, change in dose or discontinuation) in the past 3 months;
- Inability to provide clear information to parents/legal guardian;
- Not covered by social security.
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 |
|---|---|---|
| psychological and sensorial testschildren receive questionnaires and sensorial test | Other | Children Aged 3 to 16 Years |
Primary outcome
Composite criteria : Autistic Symptomatology in Children with Prader-Willi Syndrome: Prevalence, Symptom Specificity, and Variability by Age and Genetic Subtype
Time frame: day 1 to day 3
The tests used are the ADOS-2 and ADI-R tests. The ADOS-2 test is used for evaluating the ASD symptoms. It consists of structured and semi-structured activities designed to assess communication, social interaction, play, and restricted or repetitive behaviors. The best possible score is 0, while the worst possible score is 10. The other test is ADI-R. The ADI-R is a structured interview used to assess behaviors and developmental history related to ASD. The responses are scored to evaluate the presence and severity of ASD symptoms, helping to support the diagnosis.
4 secondary outcomes
Composite criteria : Characterization of the sensory profile of children with PWS
Time frame: day 1 to day 3
Composite criteria : Correlation Between Autistic Symptoms, Sensory Profile, and Cognitive-Behavioral Disorders, Including Eating Disorders
Time frame: day 1 to day 3
Composite criteria : Assessing the Impact of Autistic Symptomatology and Sensory Profile on Family Burden and Quality of Life
Time frame: day 1 to day 3
Composite criteria : comparison of Autistic Symptomatology, Sensory Profile, and Developmental Profile in 5-7 Year-Old Children: Early OT Treatment vs. Untreated
Time frame: day 1 to day 3
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 May 2025.
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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.
Sophie Cabal principal investigator
University Hospital of Toulouse
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, run by University Hospital, Toulouse at 1 site in France.
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 4 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: looking for participants now, as of the sponsor's last update on 8 May 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 France. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Nadege ALGANS (0561777204 ext. +33, algans.n@chu-toulouse.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Composite criteria : Autistic Symptomatology in Children with Prader-Willi Syndrome: Prevalence, Symptom Specificity, and Variability by Age and Genetic Subtype (time frame: day 1 to day 3). 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 8 May 2025.