Study of RLY-2608 for Adults and Children with PIK3CA-Related Overgrowth and Malformations

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What is this study about?

This clinical trial is focused on studying a condition known as PIK3CA Related Overgrowth Spectrum and malformations caused by a mutation in the PIK3CA gene. The trial will explore the effects of a new treatment called RLY-2608, which is taken as a capsule. This treatment is designed to target and inhibit a specific protein that is affected by the PIK3CA mutation, potentially helping to manage the symptoms associated with this condition.

The purpose of the study is to determine the best dose of RLY-2608 for different groups of participants and to assess its safety and effectiveness. The study will be conducted in several parts. Initially, participants will receive RLY-2608 to find the most suitable dose and to monitor any side effects. In a later part of the study, the effectiveness of RLY-2608 will be compared to a placebo to see how well it works in reducing the size of the overgrowths or malformations.

Participants in the study will be monitored over a period of time to observe any changes in their condition and to ensure their safety. The study aims to provide valuable information on how RLY-2608 can be used to treat individuals with conditions driven by the PIK3CA mutation, potentially leading to improved treatment options in the future.

1 joining the study

Upon joining the study, the participant will be informed about the trial’s purpose and procedures. The participant will be required to provide consent to participate in the study.

The participant must have a clinical diagnosis of PIK3CA Related Overgrowth Spectrum or a malformation driven by PIK3CA mutation. A performance status assessment will be conducted to ensure eligibility.

2 initial assessment

The participant will undergo an initial assessment, which includes providing archived lesional fluid or tissue. If necessary, a pretreatment lesional biopsy may be performed to assess PIK3CA status.

This step ensures that the participant meets all the necessary criteria for the study.

3 medication administration

The participant will begin taking the study medication, RLY-2608, in capsule form. The medication is taken orally.

The dosage, frequency, and duration of administration will be determined by the study protocol and communicated to the participant.

4 monitoring and follow-up

Throughout the study, the participant will be monitored for safety and tolerability of RLY-2608. This includes regular check-ups and assessments of any side effects or adverse events.

The participant’s response to the medication will be evaluated through various tests and measurements, including changes in lesion volume.

5 completion of study

Upon completion of the study, the participant will undergo a final assessment to evaluate the overall effects of the medication.

The participant will be informed about the results and any further steps, if necessary.

Who Can Join the Study?

The participant must have a clinical diagnosis of PROS (PIK3CA Related Overgrowth Spectrum) or a malformation as classified by ISSVA 2018.
One or more documented activating PIK3CA mutation(s) that are targeted by selective PI3Kα inhibitors must be present in the affected tissue or in cell-free DNA from the lesion or blood.
Agree to provide archived fluid or tissue from the affected area, or be willing to undergo a biopsy (a procedure to remove a small sample of tissue) before treatment, if it is considered safe and medically feasible, to check for PIK3CA status.
Have a Lansky performance status of 50 or higher if under 16 years old, or a Karnofsky performance status of 50 or higher if 16 years old or older. These are scales that measure the participant’s ability to perform everyday activities.
Participants can be of any gender.
Participants must be within the age range of 2 to 17 years old.

Who Cannot Join the Study?

Patients with any other serious health condition that might interfere with the study.
Patients who are pregnant or breastfeeding.
Patients who have participated in another clinical trial within the last 30 days.
Patients who have a known allergy to the study medication or its ingredients.
Patients who are unable to follow the study procedures or instructions.
Patients with a history of certain types of cancer, unless they have been in remission for a specified period.
Patients with severe liver or kidney disease.
Patients with uncontrolled high blood pressure.
Patients with a history of heart attack or stroke within the last 6 months.
Patients who are currently using certain medications that might interfere with the study drug.

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name	City	Country
Fondazione Policlinico Universitario Agostino Gemelli IRCCS	Rome	Italy
Oslo Universitetssykehus HF	Oslo	Norway
Centre Hospitalier Universitaire De Bordeaux	Bordeaux	France

Other Sites

Site Name	City	Country
Hospital Sant Joan De Deu Barcelona	Esplugues De Llobregat	Spain
Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	Milan	Italy
Medical Center – University Of Freiburg	Freiburg Im Breisgau	Germany
Centre Hospitalier Universitaire Amiens Picardie	Amiens	France
Hopital Beaujon	Clichy	France
Ospedale Pediatrico Bambino Gesu’	Rome	Italy
Children’s Health Ireland	Dublin	Ireland
Ospedale Infantile Regina Margherita	Turin	Italy
Cakamslho Unixadynclzora Sgczskqur	Woluwe-Saint-Lambert	Belgium
Mkzazbarojfdppkxkcdfjwvdak Hxwrpzsdfkokpdtw	Halle (Saale)	Germany
Awsvossvgd Ptpwaodv Hidbnbmx Dm Mwqzaagdy	Marseille	France
Fdbjkfvtf Pccj Lm Iiwirfyykhhmv Blebqxpep Dng Himexbib Uhqmrjopfscyf Lx Pcy	Madrid	Spain
Hankyiks Ujwwuawlbfinc dt A Ceqncy	A Coruna Galicia	Spain

Trial status

Country	Status	Recruitment Start
Belgium	Recruiting	24.10.2025
France	Not yet recruiting	24.10.2025
Germany	Recruiting	24.10.2025
Ireland	Recruiting	24.10.2025
Italy	Recruiting	24.10.2025
Norway	Not yet recruiting	24.10.2025
Spain	Recruiting	24.10.2025

Trial locations

Investigated drugs:

RLY-2608

RLY-2608 is a medication being studied for its potential to help people with certain growth and development issues caused by a specific genetic mutation. This mutation affects a gene called PIK3CA, which can lead to overgrowth and malformations in the body. The medication works by selectively targeting and inhibiting the activity of the mutated gene, which may help reduce the abnormal growth and improve symptoms. The study aims to find the best dose of RLY-2608 and to understand how safe and tolerable it is for both adults and children with these conditions. Additionally, the study will compare the effectiveness of RLY-2608 to a placebo in improving the condition of participants. This could potentially lead to a new treatment option for those affected by PIK3CA-related overgrowth and malformations.

Investigated diseases:

PIK3CA-Related Overgrowth Spectrum – This condition is characterized by abnormal growth and malformations in various parts of the body, driven by mutations in the PIK3CA gene. The overgrowth can affect bones, skin, and other tissues, leading to asymmetry and disproportionality. The progression of the disease varies widely among individuals, with some experiencing rapid growth in affected areas. The condition can lead to complications such as pain, mobility issues, and functional impairments depending on the location and extent of the overgrowth. The severity and specific manifestations of the disease can differ significantly, even among those with the same genetic mutation. The condition is considered rare and can present at birth or develop during childhood.

Trial ID:

2024-518895-30-00

Protocol code:

RLY-2608-201

NCT ID:

NCT06789913

Trial Phase:

Therapeutic exploratory (Phase II)

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Study of RLY-2608 for Adults and Children with PIK3CA-Related Overgrowth and Malformations

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