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New treatment option for Down Syndrome (Trisomy 21)
Official title AEF0217 in Participants With Down Syndrome
ClinicalTrials.gov ID: NCT07334912
What this study is testing
What is AEF0217 100 µg?
AEF0217 100 µg is an investigational medicine, given as an once-daily pill taken by mouth, being studied as a potential treatment for down syndrome (trisomy 21).
Also referred to as 3β-benzyloxy-17α-methyl-pregn-5-en-20-one.
Plain-language explanation of the investigational treatment - it is being studied and is not an approved or proven therapy. The study team can confirm the details.
- What it's testing
- The goal of this clinical trial is to identify if AEF0217 show an improvement in adaptive behaviors (daily life activities) in adults and older adolescents with Down Syndrome. It will also learn about the safety of AEF0217.
- Phase 2: a mid-size study of how well it works
- You might receive a placebo (an inactive treatment) instead of the study drug, decided by chance.
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Ages 16 to 32
You may be able to join if
- 1\. Male and female. For males: Throughout the trial and until the end of the trial, male participants should refrain from donating sperm and, if...
- 2\. Age ≥16 to ≤32years.
- 3\. BMI ≥18.0 and ≤35 kg/m2.
- 4\. Clinical diagnosis of Down syndrome (full trisomy 21 or translocations) documented by chromosomal analysis (karyotyping).
- 5\. Must be independently mobile and have sufficient vision and hearing to participate in the trial evaluations.
You likely can't join if
- 1\. Pregnant or nursing female. Down syndrome
- 2\. Mosaic Down syndrome or Down Syndrome Regression Disorder (DSRD). Medical history and clinical status
- 3\. Active or clinically relevant conditions that could, in the investigator's judgment, affect absorption, distribution, or metabolism of the trial...
- 4\. Clinically relevant obstructive pulmonary disease or asthma that is untreated. Patients well-controlled by treatment (inhalation or oral) for at...
- 5\. Known severe obstructive sleep apnoea or if the investigator thinks that the person should be referred for a diagnosis/treatment of obstructive...
- 6\. Recent (≤1 year) or ongoing haematologic or oncologic disorders (mild anaemia is allowed).
See the full eligibility criteria
Who can join
- 1\. Male and female. For males: Throughout the trial and until the end of the trial, male participants should refrain from donating sperm and, if sexually active, use double-barrier contraceptive methods (i.e., male...
- 2\. Age ≥16 to ≤32years.
- 3\. BMI ≥18.0 and ≤35 kg/m2.
- 4\. Clinical diagnosis of Down syndrome (full trisomy 21 or translocations) documented by chromosomal analysis (karyotyping).
- 5\. Must be independently mobile and have sufficient vision and hearing to participate in the trial evaluations.
- 6\. IQ \>35-70 measured with Leiter-3. Individuals with IQ from \>35 to \<40 must have adequate cognitive and behavioural abilities according to the judgment of the principal investigator.
- 7\. VCI of WISC-V language test score \>4, based on mental age (estimated via IQ).
- 8.Must be able to understand most of the time and to express if he/she does not understand to the extent that he/she can accept the trial procedures. Must not use other forms of communication, signs, symbol boards, or...
- 9\. Must have a parent or other reliable caregiver who agrees to accompany the participant to all clinic visits, provide information about the participant as required by the protocol, and ensure compliance with the...
- 10.The parent or caregiver must be a constant and reliable informant with sufficient contact with the participant to have detailed knowledge of the participant's adaptive functioning to be able to answer accurately the...
- 11\. Vital signs, ECG , and safety laboratory3 parameters must be without clinically relevant abnormalities as per the judgement of the investigator, except for:
- Stable type 1 or 2 diabetes provided the participant is monitored regularly prior to and during the trial to ensure adequate glucose control.
- Hypothyroidism controlled by treatment so that the participant is euthyroid and T4 stable (range 77-155 nmol/L) for at least 6 weeks prior to randomization. Fluctuations in TSH up to a maximum of 10 mIU/L are allowed.
- 12\. a. Assent by the participant and consent by the legally authorized representative(s) on behalf of the participant or b. Consent by the participant in situations where consent rather than assent can be provided by...
- 13\. Informed consent by the participant's caregiver to take on the obligations of the caregiver in this trial.
What rules you out
- 1\. Pregnant or nursing female. Down syndrome
- 2\. Mosaic Down syndrome or Down Syndrome Regression Disorder (DSRD). Medical history and clinical status
- 3\. Active or clinically relevant conditions that could, in the investigator's judgment, affect absorption, distribution, or metabolism of the trial medication (e.g., inflammatory bowel disease, gastric or duodenal...
- 4\. Clinically relevant obstructive pulmonary disease or asthma that is untreated. Patients well-controlled by treatment (inhalation or oral) for at least 6 weeks prior to screening may be included if considered safe by...
- 5\. Known severe obstructive sleep apnoea or if the investigator thinks that the person should be referred for a diagnosis/treatment of obstructive sleep apnoea.
- 6\. Recent (≤1 year) or ongoing haematologic or oncologic disorders (mild anaemia is allowed).
- 7\. History of infantile spasms/convulsions/epilepsy, severe head trauma or central nervous system infections (e.g., meningitis), except for isolated events of febrile seizures more than 8 years ago.
- 8\. Clinically relevant unstable gastrointestinal, renal, hepatic, endocrine (including metabolic syndrome), or cardiovascular system disease as per the investigator's judgement.
- 9\. Any prevailing psychiatric disorder diagnosed using the DSM-5 that dominates a person's overall clinical condition outside of Down syndrome. If symptoms consistent with a diagnosis of psychiatric illness are...
- 10\. Participants with secondary psychiatric disorders including conduct disorders, attention deficit hyperactivity disorder, depressive disorders, anxiety disorders, and others that: 1) dominate the overall clinical...
- 11\. Symptoms of early dementia confirmed by the NTG-EDSD.
- 12\. Substance use disorder as defined by the DSM-5.
- 13\. Positive urine test for alcohol and drugs of abuse at screening and prior to first dosing.
- 14\. Current diagnosis of epilepsy.
- 15\. A history of intentional self-harm or suicide attempts brought on by suicidal thoughts. Suicidal ideation in the 12 months before screening, even if there was no suicide attempt or intentional self-harm. Assessed...
- 16\. Known hypersensitivity to AEF0217 or fructose intolerance.
- 17\. Clinically significant illness, such as active infections, within 2 weeks prior to randomization, according to the investigator's judgment.
- 18\. Any current life-threatening disease.
- 19\. Any additional clinically significant concomitant disease, condition, or screening result that, in the investigator's opinion, could endanger the participant's safety, interfere with trial conduct and related...
- 20\. Treatment with 1st generation neuroleptic drugs currently or within 3 months prior to randomization and benzodiazepines currently or in the 4 weeks prior to baseline assessments.
- 21\. Intake of products containing EGCG (e.g., TEAVIGO, Mega Green Tea Capsules Life Extension, or Font-UP Grand Fontaine Laboratories) currently or during the last 4 weeks prior to the baseline assessments.
- 22\. Treatment with medications or very regular consumption of fruits (i.e., pomelo/grapefruit) or natural remedies (i.e., hypericum preparations) known to strongly or moderately induce or inhibit CYP3A4/5 P450...
- 23\. Administration of an investigational medicinal product, including AEF0217, within the last 3 months prior to randomization.
The study team makes the final eligibility decision.
Where it's taking place
- Bordeaux, France
- Lyon, France
- Montpellier, France
- Paris, France
- Saint-Etienne, France
- Bologna, Italy
- Roma, Italy
- Troina, Italy
- Barcelona, Spain
- Madrid, Spain
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 16 years to 32 years. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Bordeaux, France; Lyon, France; Montpellier, France; Paris, France; Saint-Etienne, France; Bologna, Italy and 4 more location(s). Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.