Qualitative Effects of AEF0217 in Down Syndrome People

Qualitative Evaluation of Perceived Effects Elicited by AEF0217 in Individuals With Down Syndrome

Following the AEF0217-102 trial (NCT05748405), which investigated the effects of AEF0217 versus placebo, participants with Down syndrome and their caregivers who took part in the trial are invited to share their perceptions of what they experienced or observed, in an exploratory manner.

This qualitative study collects information through a specific questionnaire developed for this purpose.

Study Overview

• Status: Enrolling by invitation
• Conditions: Down Syndrome (Trisomy 21)

Detailed Description

This is a non-interventional, follow-up, cross-sectional, mixed-methods (qualitative and quantitative) study.

Participants and their caregivers who will be enrolled are those who have received either AEF0217 or placebo and who have completed the previous trial.

The participant and their cargiver will be contacted prospectively to assess their interest in participating in the study.

The participant and their caregiver will sign an electronic informed consent form and will receive a link to a questionnaire developed using EU Survey to be completed.

Data will be collected at a single time point but may refer retrospectively to past experiences related to the previous trial. Data from all participants and caregivers who complete the questionnaire will be included in the analysis.

Given the observational and descriptive nature of the study, the quantitative analysis will be primarily descriptive.

The study will be conducted in accordance with the ethical principles derived from the Declaration of Helsinki (75th General Assembly, Helsinki, Finland, October 2024).

In addition, the study will be conducted in compliance with the protocol, Regulation (EU) 2016/679 (General Data Protection Regulation, GDPR), and the regulatory requirements applicable at the study site.

• Study Type: Observational
• Enrollment (Estimated): 28

Contacts and Locations

Study Locations

• Spain
  • Barcelona, Spain, 08003
    • Hospital del Mar Research Institute

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Caregivers and participants who have participated and completed the RCT AEF0217-201 (NCT 05748405)

Description

Inclusion Criteria:

1. Participants having completed the trial AEF0217-102
2. Being the caregiver of the participant
3. Provided written informed consent (or assent in case of individuals with Down syndrome with no capacity to legally sign the consent)

Exclusion Criteria:

1- Not wanting to provide a written informed consent

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Group AEF0217; Participants who received AEF0217 in the previous trial AEF0217-102
Group Placebo; Participants who received Placebo in the previous trial AEF0217-102

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
- Overall, how would the caregiver describe the experience with the effect of the treatment the participant received during the trial?	Rating of the global perception of the treatment period (Likert scale). Scale in 5 points (Very positive, Somewhat positive, Neutral, Somewhat negative, Very negative).; Completed by the caregiver	Day 1

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Ability to manage personal needs: eating, dressing, bathing, hygiene	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Enrolment day
Ability to carry out household responsibilities, such as cleaning up, completing chores, and preparing food	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Improvement in his/her engagement in structured activities or as a student, an apprentice or in his/her paid job	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Improvement in his/her ability to adapt to new situations	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Improvement in his/her ability to handle responsibilities	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Improvement in his/her ability to face challenges and stress	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Improvement in his/her ability to apply numerical concepts in everyday situations, such as understanding time, dates, and handling of money (cash)	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Improvement his/her ability to navigate life outside the home, as for example have an improved safety awareness and use of transportation	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Ability to relate and interact with others	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Ability to maintain and develop relationships	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
He/she is more empathic	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Increased activity in participating in recreational activities with others	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Improvement in adapting to new various social situations	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Ability to take part in a conversation/communication	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
He/she listens more attentively and/or responds more appropriately	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Understand better spoken and nonverbal information	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Can better express needs, thoughts, and emotions using verbal language	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Write more often and/or use better grammar and/or spelling	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Reads and better understand texts.	Amplitude of the observed changes; Rating: numeric score from 0 to 10 with "0" = No improvement at all and "10" = Very marked improvement; Completed by the caregiver	Day 1
Overall, how the study satisfied the effects the caregiver was expecting in the participant after receiving the treatment??	Rating of the global perception of the treatment period (Likert scale). Scale in 5 points (Very positive, Somewhat positive, Neutral, Somewhat negative, Very negative); Completed by the caregiver	Day 1
Which treatment does the caregiver believe the participant received before knowing the actual assignment (active drug or placebo)	Rating Scale in 3 points (AEF0217, Placebo, I am not sure); completed by the caregiver	Day 1
Was the caregiver's assumption about the treatment allocation correct?	Rating Scale in 2 points Yes or No; Completed by the caregiver	Day 1
If the caregiver noticed an improvement what type of changes did the caregiver observe after the end of the treatment period?	Rating as follows: The improvement continued up to this day; The improvement continued for some time and then started to decline; The improvement remained stable up to this day; The improvement remained stable for some time and then started to decline; The improvement started to decline shortly after the end of the treatment; After the decline the function returned to and stabilized at the level prior to the study; After the decline the functioning becomes progressively worse than the level prior to the study. Percentage calculated. - Completed by the caregiver	Day 1
Thinking about the participant's abilities while taking the treatment, what changes (if any) did the caregiver notice?	Qualitative (open text); Thematic analysis to identify perceived domains of change and salient themes; Completed by the caregiver	Day 1
In the caregiver's opinion, what impact did the changes, if any, had on the participant's wellbeing and the day-to-day activities of the family?	Qualitative (open text); Qualitative coding will be performed independently by two researchers using NVivo 15 (or similar). Discrepancies will be resolved through consensus discussions. Themes will be validated through iterative review and triangulated with quantitative findings to ensure coherence.• Thematic analysis to identify perceived domains of change and salient themes; Completed by the caregiver	Day 1
In the caregiver's opinion, what impact did the changes, if any, have on the participant's interaction with others in the social ?	Qualitative (open text); Thematic analysis to identify perceived domains of change and salient themes; Completed by the caregiver	Day 1
Does the participant remember the effects of the treatment with AEF0217?	Binary variable: Yes or no; Completed by the participant with Down Syndrome	Day 1
Did the participant notice any change to the better in abilities or behaviors after participating in the AEF0217 study?	Only if the question 28 is answered "Yes"; Rated using a 4 levels scale (Big changes, Some changes, No change, Worsening); Completed by the participant with Down Syndrome	Day 1
If the participant observed changes, in which areas did they happen ?	Only if the question 29 is answered "big changes" or some changes"; Rated using a multiple-choice question (more than one answer is possible)My abilities to understandMy ability to speakMy ability to writeMy ability to concentrateMy ability to pay attentionMy ability to control my behaviorMy abilities to learn at schoolMy ability to take care of myselfMy ability to interact with othersMy ability to perform my daily abilitiesMy ability to execute my job; Completed by the participant with Down Syndrome	Day 1
Does the participant think the treatment helped daily life ?	Only if the question 29 is answered "big changes" or some changes"; Rated using a 4 levels scale (Yes, a lot/Yes, a little/Not really/I don't know); Completed by the participant with Down Syndrome	Day 1

Collaborators and Investigators

• Sponsor: Aelis Farma
• Collaborators: Hospital del Mar Research Institute (IMIM)
• Investigators: Study Director: Pier Vincenzo Piazza, MD, PhD, Aelis Farma

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2026
• Primary Completion (Estimated): May 1, 2026
• Study Completion (Estimated): May 1, 2026

Study Registration Dates

• First Submitted: February 10, 2026
• First Submitted That Met QC Criteria: February 10, 2026
• First Posted (Actual): February 17, 2026

Study Record Updates

• Last Update Posted (Actual): April 8, 2026
• Last Update Submitted That Met QC Criteria: April 3, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, Inborn; Neurobehavioral Manifestations; Congenital Abnormalities; Abnormalities, Multiple; Intellectual Disability; Chromosome Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Down Syndrome
• Other Study ID Numbers: AEF0217-001

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