ONCE: Once daily eliglustat in stable CYP2D6 intermediate and extensive metabolizers with Gaucher disease type 1
This clinical trial is studying a medicine called Cerdelga (eliglustat) for adults with type 1 Gaucher disease. Many people currently take treatment multiple times a day or have hospital infusions to keep their symptoms under control. This study is testing whether taking Cerdelga just once a day can safely keep the disease stable over one full year. The trial is open to adults aged 18 and older whose condition is already stable and whose bodies break down medicines at an expected rate. Taking part lasts for 12 months and involves taking one capsule daily, alongside regular clinic appointments. During these visits, doctors will run blood tests to check blood counts and natural chemical markers. The main goal is to find out if this simpler, once-a-day routine works just as well at keeping health steady.
En un coup d'œil
De quoi parle cette étude ?
Type 1 Gaucher disease is a rare genetic condition where the body cannot properly break down certain fatty substances. Over time, these fats build up in organs like the liver, spleen, and bone marrow. This can lead to low energy, easy bruising, low blood counts, and bone pain. Modern treatments are very effective at managing these problems, but they often require regular hospital drips or multiple capsules taken throughout the day.
Cerdelga (eliglustat) is an approved capsule that slows down the build-up of these fatty substances. In this study, doctors want to see if taking an 84 mg capsule once a day works well for people whose condition is already well controlled. They want to know if a single daily pill can keep symptoms, blood levels, and organ health stable without the disease getting worse.
Taking fewer pills could make daily life much easier for people living with Gaucher disease. By testing this simpler routine over 12 months, researchers hope to provide clear evidence on whether once-daily dosing is safe and reliable, giving patients more flexibility in managing their long-term health.
Points clés
- The study tests taking Cerdelga (eliglustat) once a day for 12 months.
- It is for adults aged 18 and older with stable type 1 Gaucher disease.
- Clinic check-ups and blood tests take place every three months.
- The main aim is to see if a once-daily routine safely keeps the condition under control.
- Taking part is voluntary, and you can leave the study at any time.
Qui peut être éligible ?
This trial is designed for adults aged 18 and over who have been diagnosed with type 1 Gaucher disease. To take part, your condition needs to be clinically stable, meaning your symptoms and blood counts have not changed significantly for a while.
The study also looks at how your liver processes medication. It is open to people who are known as 'intermediate' or 'extensive' metabolisers of a liver enzyme called CYP2D6. In simple terms, this means your body breaks down this specific medicine at a normal, predictable speed, which can be checked with a simple genetic blood test.
You may not be eligible if your Gaucher disease is currently unstable, if your body processes the medicine too quickly or too slowly, or if you take other medications that could interfere with Cerdelga. Your hospital specialist will be able to confirm these details with you.
Cet étude pourrait-elle vous convenir ?
Répondez à ces questions rapides pour voir si vous êtes éligible. Ceci est un guide uniquement — l'équipe de recherche prend la décision finale.
- I am aged 18 or older.
- I have been diagnosed with type 1 Gaucher disease.
- My Gaucher symptoms and blood counts are currently stable.
- My body processes medicines through the CYP2D6 enzyme at an expected rate (or I am willing to be tested).
- I am able to attend regular hospital check-ups over a 12-month period.
En quoi consiste la participation ?
Taking part in this study lasts for 12 months. If you join, you will be asked to take one Cerdelga capsule (84 mg) by mouth once every day. You will need to attend hospital clinic appointments at the start of the study, and then roughly every three months (at months 3, 6, 9, and 12).
During these appointments, the medical team will check your overall health and take blood samples. These blood tests will measure your red blood cells (haemoglobin), clotting cells (platelets), and specific Gaucher markers to ensure your disease remains completely stable. You may also have an optional test to measure how much of the medicine is in your blood stream.
Risques et avantages potentiels
Emplacements (1)
- —Non vérifiéPays-Bas
Questions fréquentes
What is the difference between my current treatment and this trial?
This study tests whether taking Cerdelga just once a day keeps your condition just as stable as more frequent daily doses or regular hospital drip treatments.
What does CYP2D6 metaboliser mean?
CYP2D6 is a natural enzyme in your liver that breaks down certain medicines. The trial requires your body to process this medicine at a normal, standard rate.
Will taking part cost me anything?
No, the study medication and tests are provided at no cost, and clinical trials often help cover travel expenses for hospital visits.
Can I stop taking part if I change my mind?
Yes, taking part is completely voluntary. You can withdraw at any point and return to your previous standard treatment.
How will the doctors know if my condition is getting worse?
Doctors will monitor your symptoms and check your blood counts and disease markers at months 3, 6, 9, and 12 to make sure everything stays steady.
Comment en savoir plus
Parlez toujours à votre médecin généraliste ou spécialiste avant de décider de participer à une étude.
Discussion
Discussion communautaire
Propulsé par notre forum à community.patient.info. Veuillez être respectueux — ceci n'est pas un avis médical.