A study testing sirolimus to slow disease progression in patients with familial adenomatous polyposis

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What is this study about?

This study is looking at a condition called familial adenomatous polyposis, which is a genetic disorder where numerous growths called polyps develop in the digestive tract, particularly in the large intestine and small intestine. People with this condition are at high risk of these polyps turning into cancer if left untreated. The study will test a medication called eRapa, which contains the active ingredient sirolimus, also known as rapamycin. Some participants will receive eRapa capsules taken by mouth, while others will receive placebo capsules that look identical but contain no active medication.

The purpose of this study is to find out if eRapa treatment can slow down disease progression in patients with familial adenomatous polyposis. Disease progression in this study means serious events related to the condition, such as the development of cancer, the presence of severely abnormal cells called high-grade dysplasia, the need for major surgery to remove parts of the intestine or digestive tract, or death from any cause. The study will also examine how eRapa affects the total size of polyps in both the upper digestive tract, specifically the duodenum, and the lower digestive tract, which includes the colon and any remaining portions of the rectum or surgically created pouch. Additionally, the study will track changes in polyp characteristics using a scoring system called the Spigelman stage score.

During the study, participants will take their assigned medication daily for up to 132 weeks, which is approximately two and a half years. They will undergo regular examinations using endoscopy, which is a procedure where a flexible tube with a camera is used to look inside the digestive tract, at various time points including 6, 12, 18, 24, 30, and 36 months. The study will monitor participants for any unwanted effects of the treatment and will measure how the treatment affects their quality of life using questionnaires. The study will also track how many participants need to stop taking the medication due to side effects.

1 Starting treatment

After joining the study, you will begin receiving either eRapa or placebo. The placebo is an inactive substance that looks identical to the actual medication. This is a double-blind study, which means neither you nor your doctor will know which treatment you are receiving during the trial.

eRapa contains sirolimus as the active ingredient. The medication is provided as a capsule that you will take by mouth.

You will need to take the assigned treatment regularly as instructed by the study doctor. The treatment will continue throughout the entire study period, which may last up to 36 months.

2 Regular monitoring visits

Throughout the study, you will attend regular monitoring appointments to check your health and the status of your condition.

These visits will occur at specific time points: at 6 months, 12 months, 18 months, 24 months, 30 months, and 36 months after starting treatment.

During these visits, your doctor will assess any side effects you may be experiencing and will monitor your overall health.

3 Endoscopy procedures

You will undergo routine endoscopy examinations at regular intervals. An endoscopy is a procedure where a thin, flexible tube with a camera is used to examine the inside of your digestive tract.

These examinations will be performed at 6 months, 12 months, 18 months, 24 months, 30 months, and 36 months after starting treatment.

The endoscopy will include examination of both the upper gastrointestinal tract (the duodenum, which is the first part of the small intestine) and the lower gastrointestinal tract (the colon, any remaining rectum or sigmoid colon, or pouch if you have had previous surgery).

During the endoscopy, the doctor will measure the size and number of polyps. Polyps are small growths on the lining of the intestine that occur in familial adenomatous polyposis. The doctor will focus on polyps larger than 3 millimeters in size.

The measurements will help determine whether the treatment is affecting the growth of polyps in your digestive tract.

4 Quality of life assessments

At each monitoring visit, you will be asked to complete questionnaires about your quality of life and how you are feeling.

These questionnaires include the EQ-5D-5L, which asks about your mobility, self-care, usual activities, pain or discomfort, and anxiety or depression.

You will also complete the EORTC QLQ-30, which is a questionnaire specifically designed for people with cancer-related conditions. It asks about physical symptoms, emotional well-being, and how your condition affects your daily life.

These assessments will be completed at 6 months, 12 months, 18 months, 24 months, 30 months, and 36 months after starting treatment.

5 Pregnancy testing and contraception requirements

If you are able to become pregnant, you will need to have a pregnancy test before starting the treatment and at regular intervals throughout the study.

You must use an effective method of contraception during the entire treatment period and for at least 12 weeks after taking the last dose of study medication.

If you are able to cause pregnancy, you must also use contraception during the treatment period and for at least 12 weeks after the last dose. This includes using a condom and ensuring your partner uses an effective contraceptive method if applicable.

You must not donate eggs or sperm during the treatment period and for 12 weeks after the last dose.

6 Monitoring for disease progression

Throughout the study, your doctor will monitor for signs of disease progression. This means checking whether your condition is getting worse.

Disease progression in this study is defined as specific events related to familial adenomatous polyposis, including the development of cancer or high-grade dysplasia (abnormal cells that may become cancerous), or the need for major surgery related to your condition.

Major surgeries that would be considered progression include removal of the colon, rectum, or pouch, or procedures on the duodenum.

The main goal of the study is to determine whether the treatment delays these progression events.

7 Completing the study

The study treatment period will last up to 36 months.

After you complete the treatment or if you stop treatment early, you will have a final follow-up period of at least 12 weeks to monitor for any delayed effects of the medication.

Your participation in the study will be considered complete after this final follow-up period.

Who Can Join the Study?

You must be at least 18 years old or older when you sign the consent form
You must have a confirmed diagnosis of Familial adenomatous polyposis, which is an inherited condition that causes many growths called polyps in the intestines. This diagnosis must be proven by a genetic test showing a mutation in the APC gene, or you must have a clear family history of this condition
You must have at least one of these high-risk features: more than 100 but no more than 500 polyps in your colon, or at least 10 polyps that are 3 millimeters or larger in your remaining rectum, sigmoid area, or ileal pouch (a surgically created pouch made from the small intestine), or you must have Spigelman stage 3 or 4 disease (a classification system that measures polyps in the upper digestive tract) with at least one polyp that is 10 millimeters or larger that needs to be removed at the start of the study or was seen on an examination done within 18 months before screening
You can be male or female, including all gender identities. If you are able to have children, you must agree to use birth control methods according to local regulations
If you are a male participant, you must agree during the study and for at least 12 weeks after the last dose to not donate sperm, and either avoid sexual intercourse that could lead to pregnancy, or use a condom during sexual activity. If your partner can become pregnant, you must also ensure they use an additional highly effective birth control method with less than 1% failure rate per year
If you are a female participant, you must not be pregnant or breastfeeding. You must either be unable to have children, or if you can have children, you must use a highly effective birth control method with less than 1% failure rate per year during the study and for at least 12 weeks after the last dose. You must also agree not to donate eggs during this time
If you are a female participant who can have children, you must have a negative pregnancy test within 24 hours before receiving the first dose of the study treatment
If you are a female participant, you must agree to use effective birth control until one complete menstrual cycle has passed after your last dose of study treatment
You must sign an informed consent form, which is a document that explains the study and confirms you agree to participate and follow all requirements and restrictions
You must be willing and able to safely undergo routine endoscopic evaluation, which is a procedure where a thin tube with a camera is used to examine the inside of your digestive tract

Who Cannot Join the Study?

The study information provided does not list specific reasons why patients cannot participate in this clinical trial
If you are interested in participating, the research team will evaluate your individual situation to determine if you meet all requirements for the study
General factors that often prevent participation in clinical trials may include having other serious medical conditions, taking certain medications, being pregnant or breastfeeding, or having had recent surgeries
The specific exclusion criteria, which are the conditions or factors that would prevent you from joining the study, will be discussed with you directly by the study doctors

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name	City	Country	Status
Hospital Universitario Y Politecnico La Fe	Valencia	Spain

Other Sites

Site Name	City	Country
Hospital General Universitario Gregorio Maranon	Madrid	Spain
Ospedale San Raffaele S.r.l.	Milan	Italy
Hospital Clinic De Barcelona	Barcelona	Spain
Stichting Radboud University Medical Center	Nijmegen	The Netherlands
Rheinische Friedrich-Wilhelms-Universitaet Bonn	Bonn	Germany
Fondazione I.R.C.C.S. Istituto Neurologico Besta	Milan	Italy
Hroylqht Crtxfueo dpvethhmplgo	Inca	Spain
Hnkvln Hajlvnld	Herlev	Denmark
Ansyaztdf Uvm	Amsterdam	The Netherlands

Trial status

Country	Status	Recruitment Start
Denmark	Recruiting	31.10.2025
Germany	Recruiting	31.10.2025
Italy	Recruiting	31.10.2025
Spain	Recruiting	31.10.2025
The Netherlands	Recruiting	31.10.2025

Trial locations

Investigated drugs:

Sirolimus

eRapa is an experimental medication being tested in this clinical trial to see if it can slow down the progression of Familial Adenomatous Polyposis, a condition where polyps develop in the digestive tract. The study will compare this medication against a placebo to determine if it helps improve outcomes for patients with this condition.

Familial Adenomatous Polyposis – Familial adenomatous polyposis is an inherited condition that affects the digestive tract. People with this condition develop numerous polyps, which are small growths, in their colon and rectum, typically beginning during the teenage years or early adulthood. These polyps also commonly appear in the upper part of the digestive system, particularly in the duodenum. Without intervention, the number of polyps increases over time, and they can grow larger. The condition progresses as polyps continue to develop and may change into more serious forms. This disease is passed down through families due to genetic mutations.

Trial ID:

2025-522946-37-00

Protocol code:

MTX230-301

Trial Phase:

Therapeutic confirmatory (Phase III)

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A study testing sirolimus to slow disease progression in patients with familial adenomatous polyposis

What is this study about?

Who Can Join the Study?

Who Cannot Join the Study?