Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension
This research study is investigating a new medication called venglustat for adults living with Gaucher disease, particularly types 1 and 3. Researchers are aiming to understand how venglustat works in the brain and body. The study has several parts. First, they will compare brain markers in people with Type 1 and Type 3 Gaucher disease. Then, they will look at the safety and if venglustat, when taken with an existing treatment called Cerezyme, helps improve symptoms like spleen and liver size, blood counts, and brain function in those with Type 3. A later part will assess venglustat on its own for Type 3 Gaucher disease in people who have been stable. The study will also track how the body uses venglustat and its overall effects.
De un vistazo
¿De qué trata este estudio?
This study is designed to learn more about a new medication called venglustat for adults who have a genetic condition known as Gaucher disease. There are different types of Gaucher disease, and this study focuses on Types 1 and 3. Gaucher disease happens when the body doesn't produce enough of a specific enzyme, leading to a build-up of certain fatty substances in organs like the spleen, liver, and sometimes the brain.
The study has a few main goals. Initially, researchers want to identify specific markers in the fluid surrounding the brain and spinal cord that are different between Type 1 and Type 3 Gaucher disease. This helps understand the disease better. For people with Type 3 Gaucher disease, the study will then look at whether venglustat, when given alongside an existing treatment called Cerezyme, is safe and helps improve symptoms. These symptoms can include the size of the spleen and liver, blood cell counts, and how well the brain is working.
Finally, for those with Type 3 Gaucher disease who have been doing well on the combination treatment, the study will explore whether taking venglustat on its own is safe and effective in managing their condition. Throughout the study, researchers will carefully monitor participants' health, including blood tests and assessments of their symptoms, to understand how venglustat works and if it can be a helpful treatment option.
Puntos clave
- This study explores a new drug, venglustat, for adult Gaucher disease Types 1 and 3.
- It aims to see if venglustat is safe and effective, both alone and with Cerezyme.
- Researchers will monitor organ size, blood counts, and brain function.
- Participation could last from 45 days (Type 1) to up to 10 years (Type 3).
- You'll have regular clinic visits for checks and medication.
¿Quién puede ser elegible?
To join this study, you generally need to be an adult with a confirmed diagnosis of Gaucher disease, either Type 1 or Type 3. For Type 1, you should be between 18 and 40 years old, while for Type 3, you just need to be 18 or older.
If you have Type 3 Gaucher disease and want to take part in the treatment phases, you must have been receiving enzyme replacement therapy (like Cerezyme) for at least three years, be on a steady dose for at least six months, and your doctor must confirm you've been stable for at least one year. Your Gaucher disease symptoms, such as your blood counts and the size of your spleen and liver, also need to be within certain healthy ranges. You should not have had any recent bone crises or severe bone pain.
Importantly, if you are a woman who could become pregnant, you would need to have a negative pregnancy test before starting the study. These rules are in place to make sure that the study is safe for participants and that the results are clear and meaningful.
¿Podría este estudio ser adecuado para ti?
Responde estas preguntas rápidas para ver si puedes ser elegible. Esto es solo una guía: el equipo de investigación toma la decisión final.
- Are you an adult (18 or older)?
- Do you have a confirmed diagnosis of Gaucher disease Type 1 (aged 18-40) or Type 3?
- If you have Type 3, have you been on stable enzyme replacement therapy (like Cerezyme) for over 3 years?
- Are your current Gaucher disease symptoms (like blood counts, spleen/liver size) generally well-managed?
- Are you able to attend regular clinic visits for assessments and medication?
¿En qué consiste la participación?
If you decide to take part, the study will have different durations depending on your type of Gaucher disease. For those with Type 1, your involvement would be short, lasting about 45 days. For Type 3 participants, the study could last for up to 10 years.
Throughout the study, you would have regular visits to the clinic for various assessments. These might include blood tests, measurements of your spleen and liver, and evaluations of your brain function, especially for Type 3. You would receive the study medication, venglustat, which would be either in combination with your current Cerezyme treatment or as a single medication, depending on the study part you're in. Researchers will also look at how your body handles the medicine.
Your participation involves taking the study medication as instructed and attending all scheduled appointments for check-ups and assessments. The medical team will be there to guide you through each step and answer any questions you may have.
Riesgos y beneficios potenciales
Ubicaciones (7)
- Yale University School of Medicine Site Number : 840002Código postal verificadoNew Haven, Estados Unidos
- Baylor Institute of Metabolic Diseases Site Number : 840001Código postal verificadoDallas, United States
- Lysosomal and Rare Disorders Research and Treatment Center, Inc Site Number : 840003Código postal verificadoFairfax, United States
- Investigational Site Number : 276001Código postal verificadoMainz, Germany
- Investigational Site Number : 392001Solo ciudadMinato-ku, Japan
- Investigational Site Number : 826003Código postal verificadoCambridge, Reino Unido
- Investigational Site Number : 826002Código postal verificadoSalford, United Kingdom
Preguntas comunes
What is Gaucher disease?
Gaucher disease is a rare genetic condition where certain fatty substances build up in organs and bones because the body doesn't produce enough of a specific enzyme.
What is venglustat?
Venglustat is a new medication being studied for its potential to treat Gaucher disease by helping to reduce the build-up of these fatty substances.
What is Cerezyme?
Cerezyme is an existing medication that replaces the missing enzyme in people with Gaucher disease. It's a common treatment for the condition.
¿Cuánto tiempo estaría en el estudio?
If you have Type 1 Gaucher disease, about 45 days. If you have Type 3, it could be up to 10 years, depending on the study part you're in.
What does 'biomarker' mean?
A biomarker is a measurable indicator of a biological state. In this study, it refers to specific substances in your body fluid that can tell us about your Gaucher disease activity.
Cómo obtener más información
Siempre hable con su médico de cabecera o especialista antes de decidir participar en un estudio.
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