An interventional study of Italian Tailored Online Problem-Solving (I-TOPS) in Genetic Syndrome, sponsored by IRCCS Eugenio Medea. Recruiting at 1 site in Italy. Open to participants aged 11 Years to 39 Years. Per ClinicalTrials.gov, last updated 2026-05-01.
Sponsored by IRCCS Eugenio Medea · Not applicable, Interventional, and Treatment
Among 64 studies in Genetic Diseases, Inborn with a site in Italy — 21 open to participants now, 25 under way, 7 of them phase 3. Genetic Diseases, Inborn · Italy.
Among the 64 studies in Genetic Diseases, Inborn with a site in Italy, this one is the 34th largest by planned enrollment of the 46 interventional ones that give a count, is one of 4 that started in 2026, is one of 7 with no phase, reaches primary completion later than 9 of the 24 other live ones, and was the 61st registered.
583 studies on the registry are indexed under Genetic Diseases, Inborn; 157 are open to participants now.
Browse Genetic Diseases, Inborn studies →21 of the 64 studies in Genetic Diseases, Inborn with a site in Italy are open now. Recruiting first, the newest first:
Avidity Biosciences, Inc. · Sites in Italy, Australia, Belgium and 7 more countries
Ages 7–16 · Men only
BioMarin Pharmaceutical · Sites in Italy, United States, Australia and 6 more countries
Ages 2–17
CSL Behring · Sites in Italy, United States, Belgium and 4 more countries
Ages 18+
Imagine Institute · Sites in Italy, Austria, Belgium and 8 more countries
Istituto Ortopedico Rizzoli · Sites in Italy
Ages 5–80
A study can be open while its sites in Italy have not opened yet or have stopped. Only those recruiting at a site in Italy →
Of the 120 Genetic Diseases, Inborn studies recruiting now, 60 (50%) set no upper age limit and 45 (38%) stop at 75 or younger; 85 take children under 18; 28 take healthy volunteers.
This study: 11 Years to 39 Years · all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
64 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 3 · Phase 2 18 · Phase 3 25
First in 1997; this study’s year is marked. 4 started in 2026.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 42 is close to the median of 40 across 305 interventional studies indexed under Genetic Diseases, Inborn.
Median enrollment 74 across the 46 interventional studies, 186 across the 18 observational. Of the 37 that completed or were terminated, 21 (57%) have results posted.
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45 of 64 have an industry lead sponsor. The 10 most frequent:
IRCCS Eugenio Medea is the lead sponsor of 109 studies on the registry; 52 are open to participants now.
IRCCS Eugenio Medea has 3 studies filed under Genetic Diseases, Inborn — fewer than ten, so there is no comparison to draw.
6 of the studies in Genetic Diseases, Inborn with a site in Italy that are under way reach primary completion within a year, 2 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT05477563Phase 3Vertex Pharmaceuticals IncorporatedEvaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease | 2027-06-09 |
| NCT05356195Phase 3Vertex Pharmaceuticals IncorporatedEvaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT) | 2027-11-14 |
| NCT07884227Istituto Giannina GasliniMulti-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases | 2026-12-31 |
| NCT07877688Istituto Giannina GasliniExome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT | 2026-12-31 |
| NCT06185764Vertex Pharmaceuticals IncorporatedA Phase 1/2 Study of VX-670 in Adult Participants With Myotonic Dystrophy 1 (DM1) | 2027-02-02 |
Add all 6 to your calendar (.ics) → With an account.
Among the 64 studies in Genetic Diseases, Inborn with a site in Italy, from their registry updates:
This tab as a report to print or save as PDF → With an account.
Genetic syndromes involving the central nervous system are often associated with cognitive, behavioral and communication difficulties that negatively impact adaptive functioning and quality of life. Despite advances in digital health, there remains a lack of evidence-based interventions targeting executive functions and psychosocial outcomes in this population.
This multicenter study aims to evaluate the feasibility and efficacy of an adapted version of the Teen Online Problem-Solving (TOPS) program, a web-based intervention designed to enhance problem-solving, self-regulation and communication skills in everyday contexts. The adapted intervention (I-TOPS) will be tailored for adolescents and young adults with genetic syndromes involving the central nervous system. The I-TOPS intervention requires the participation of both the adolescent/young adult and at least one parent, caregiver or legal guardian, as it is a family-centered program.
Participants will complete online modules at home, supported by bimonthly videoconference sessions with a cognitive-behavioral psychologist. Outcomes will be assessed through pre- and post-intervention measures of executive functioning, adaptive behavior and psychological well-being, reported by both participants and caregivers. Psychological well-being of participating parents/caregivers/guardians will also be evaluated.
The study aims to provide evidence for an accessible, scalable telehealth intervention to improve cognitive and behavioral outcomes in this underserved population.
Genetic syndromes involving the central nervous system often entail not only physical complications but also cognitive, communication, and behavioral difficulties that negatively affect quality of life and social participation. Executive functions-such as planning, organization, and behavioral regulation-are particularly vulnerable, and their impairment has significant consequences for adaptive functioning.
In recent years, cognitive and behavioral rehabilitation programs have increasingly incorporated remote delivery methods that leverage digital technologies to enhance treatment intensity and accessibility. However, evidence-based interventions specifically targeting higher-order cognitive functions and the psychological and behavioral difficulties associated with neurological conditions remain limited.
The present project aims to address this gap by adapting the Teen Online Problem-Solving (TOPS) program-an evidence-based, web-delivered intervention developed in the United States to improve everyday executive functioning in individuals with neurological conditions-for adolescents and young adults with genetic syndromes involving the central nervous system. TOPS is designed to enhance behavioral adjustment in daily life by providing a contextualized intervention focused on problem-solving, self-regulation, and communication skills within an ecological framework.
The TOPS program includes online sessions delivered through a dedicated web platform, which patients and their families complete independently at home. These sessions provide educational and informational materials, interviews exploring cognitive, psychological, and behavioral challenges associated with the individual's neurological condition, and video demonstrations illustrating problem-solving strategies relevant to situations commonly experienced as challenging by adolescents and young adults.
In addition, the intervention includes biweekly videoconference sessions conducted by a psychologist with expertise in cognitive-behavioral therapy. These sessions aim to monitor adherence to the program and completion of the online modules, support the application of executive-function-based strategies to real-life challenges, and promote the use of metacognitive techniques to strengthen self-monitoring and self-regulation.
In Italy, the dissemination of remote rehabilitation interventions remains limited, particularly for young individuals with neurological conditions, due to geographical barriers and restricted economic resources. Nonetheless, the growing interest in telemedicine is creating new opportunities for accessible and continuous care.
This multicenter study will evaluate the efficacy and feasibility of an adapted version of TOPS for patients with genetic syndromes involving the central nervous system, with the goal of improving cognitive, psychological, and behavioral functioning in the target population.
To assess efficacy, patients will undergo pre- and post-treatment evaluations of functioning, including performance-based measures and questionnaires completed by participants or their parents/guardians/caregivers, addressing psycho-behavioral adjustment and executive functioning, as well as the psychological well-being of parents/guardians/caregivers involved in the intervention.
The new Italian version of the TOPS program-adapted both for the target population and to include young adult participants-will be named Italian Tailored Online Problem Solving (I-TOPS). This designation preserves continuity with the original program while emphasizing, through the term Tailored, the evolution of the intervention toward a broader focus, an expanded age range, and increased opportunities for personalization.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
The American Psychiatric Association’s manual of mental health diagnoses. DSM-5 (2013, revised as DSM-5-TR in 2022) replaced DSM-IV, and some studies still name the older edition. “Meets DSM criteria for …” means diagnosed by that edition’s diagnostic criteria, usually by a clinician in an interview.
DSM diagnostic criteria
The American Psychiatric Association’s manual of mental health diagnoses. DSM-5 (2013, revised as DSM-5-TR in 2022) replaced DSM-IV, and some studies still name the older edition. “Meets DSM criteria for …” means diagnosed by that edition’s diagnostic criteria, usually by a clinician in an interview.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Participants assigned to this arm will receive the I-TOPS intervention, a combined web-based and telehealth program. The intervention includes two integrated components: (1) a digital platform through which patients independently complete structured psychoeducational activities (e.g., informational materials on neurological conditions and video-based problem-solving strategies for everyday situations), and (2) scheduled telemedicine sessions delivered by a psychologist trained in cognitive-behavioral therapy and experienced in neuropsychological rehabilitation. These sessions provide clinical guidance, monitor adherence, and support the application of learned strategies to daily life. The intervention is designed to integrate psychoeducation with cognitive-behavioral and neuropsychological rehabilitation principles. Participants will undergo assessments at three time points: T0 (baseline, prior to treatment), T1 (immediately post-treatment) and T2 (six-month post-treatment follow-up).
Behavioral: Italian Tailored Online Problem-Solving (I-TOPS)
Participants assigned to this arm will receive the I-TOPS intervention after a waiting-list period corresponding to the treatment period of Group 1 (experimental group). Participants will undergo assessments at three time points: T0 (baseline, prior to the waiting-list period), T1 (immediately after the waiting-list period), and T2 (immediately post-treatment).
Behavioral: Italian Tailored Online Problem-Solving (I-TOPS)
The I-TOPS web-based platform is structured into 10 core sessions aimed at providing patients, on the one hand, with information about the effects of their neurological condition and, on the other, with support in learning and applying strategies for planning and organization, enhancement of social skills, and emotion regulation. The combination of patients' independent work on the platform and the online support sessions conducted by the therapist ensures that the intervention goes beyond the mere delivery of informational content and includes practical activities to be carried out in daily life. These activities are based on specific cognitive-behavioral strategies proposed by both the program and the therapist, with personalized support tailored to the patient's real-life context by the clinician (contextualization process).
Total score from Child Behavior Checklist 6-18 (CBCL 6-18)
This measure will assess caregiver-reported psycho-behavioral adjustment for participants who are minors (CBCL 6-18). Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse outcomes.
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Total score from Adult Behavior Checklist 18-59 (ABCL 18-59)
This measure will assess caregiver-reported psycho-behavioral adjustment for participants of legal age (ABCL 18-59). Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse outcomes.
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function-2 (BRIEF-2) -parent informant-report form
This measure is designed to assess behaviors related to executive functioning in the daily life of children and adolescents aged 5 to 18 years (BRIEF-2), based on parent/caregiver observations. Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse performance.
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function-Adult Version (BRIEF-A)-informant-report form.
This measure is designed to assess behaviors related to executive functioning in the daily life of adults aged 18 to 59 years (BRIEF-A), based on parent/caregiver/informant observations. Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse performance.
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function Second Edition (BRIEF 2)-self-report form
These measures assess executive functioning in daily life based on self-report by minors aged 11 to 18. Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse outcomes.
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Global Executive Composite (GEC) score from Behavior Rating Inventory of Executive Function-Adult Version (BRIEF-A)-self-report form
These measures assess executive functioning in daily life based on self-report by adults aged 18 to 59. Scores will be expressed as T scores (M= 50; SD=10). Higher scores will indicate worse outcomes.
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Total score from Youth Self-Report 11-18 (YSR 11-18)
This measure is designed to assess psychological adjustment and behavioral functioning in adolescents aged 11 to 18 years. Scores will be expressed as T scores (M= 50; SD= 10). Higher scores will indicate worse performance.
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Total score from Adult Self-Report 18-59 (ASR 18-59).
This measure is designed to assess psychological adjustment and behavioral functioning in adults aged 18 to 59 years. Scores will be expressed as T scores (M= 50; SD= 10). Higher scores will indicate worse performance.
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Global Severity Index (GSI) from Symptom Checklist-90 (SCL-90)
The SCL-90 is a self-report questionnaire for adults, used to measure the severity of psychiatric symptoms across 9 subscales: somatization, obsessive-compulsive functioning, interpersonal sensitivity, depression, anxiety, hostility, phobic anxiety, paranoid ideation and psychoticism. In the study it will be administered to parents of participants. The Global Severity Index (GSI) will be considered, for which the score is reported as a ratio of the sum of all 90 items (0-360) to the number of items scored. Higher scores will indicate higher psychiatric symptom intensity; an average score corresponding to ≥1 on the GSI enters the clinical range.
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Total score from Beck Anxiety Inventory (BAI)
The Beck Anxiety Inventory (BAI) is a 21-item questionnaire designed to assess state and trait anxiety in adults. In the study it will be administered to parents of participants to evaluate their psychological well-being. The total score will be calculated as the sum of the 21 items (4-point Likert scale, ranging 0-3), with a minimum score of 0 and a maximum score of 108. Higher scores indicate a worse outcome. Specifically, a score of 0 to 21 will indicate low levels of anxiety, a score of 22 to 35 moderate levels of anxiety, and a score of 36 to 108 potentially concerning levels of anxiety.
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Coping Orientation to the Problems Experienced-Nuova Versione Italiana [New Italian Version] (COPE-NVI)
The COPE-NVI is a self-report questionnaire assessing various coping styles. It evaluates how frequently an individual uses specific coping strategies in stressful situations, without reference to any particular stressor. In this study it will be administered to parents of participants to examine their coping style. The following 5 domains will be evaluated: 1) Social support (scores: 12-48; M= 27,7; SD= 8,4); 2) Strategies of avoidance (scores: 16-64; M= 23,5; SD= 5,1); 3) Positive attitude (scores: 12-48; M= 30,9; SD= 6); 4) Orientation to the problem (scores: 12-48; M= 32; SD= 6,7); 5) Trascendent Orientation (scores: 8-32; M= 22,7; SD= 5,6).
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Batteria di Cognizione Sociale [Battery on Social Cognition] by Prior, Sartori and Marchi
This battery is designed to assess social cognition in adolescents and adults, with a particular focus on individuals with neurological conditions. The battery consists of 4 subtests. For the Theory of Mind subtest the maximum score is 13; a score ≥ 12 falls within the normal range. For the Emotion Attribution Test, each emotion has a different score. For sadness, the cut-off is 7 for ages 18-30 and 6 for ages 31-60 or 8-11 years of education; for awkwardness, it is 8 and 7; for anger, it is 7 and 6 (males) and 7 (females). The Social Situations Test has a score range of 0-15; a score ≥13 indicates a good understanding of social dynamics. For the Moral and Conventional Distinction Test, the gravity score for conventional behaviors ranges from 0-60, with cut-offs of 19 and 28 for males and females aged 18-30, and 19 and 20 for those aged 31-60.
Time frame: T0 (baseline: day 1), T1 (post-intervention for Group 1 and post-waiting-list period for Group 2: 6 months after study start), T2 (6-month follow-up post-intervention for Group 1 and immediate post-intervention for Group 2: 1 year after study start).
Plan to share: Undecided
Started Feb 2026 (actual). Primary completion is estimated for Feb 2027, 11 months after the start.
Of 64 non-industry interventional studies with no phase under Genetic Diseases, Inborn, half reached primary completion within 41 months of starting (the median), counting those still running; a quarter within 22 and three quarters within 60. This study's planned 11 months is below that.
Counting every sponsor, half of 66 studies reached it within 41 months; a quarter within 22 and three quarters within 60.
How these figures are worked out, and which studies are left out of them.
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