Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
This two-year study follows 60 people with Charcot-Marie-Tooth disease type 1A (CMT1A). The main goal is to understand why CMT1A affects people differently and to find ways to predict how the disease might progress. Researchers will collect information like physical assessments, nerve tests, and blood samples. They also want to identify valuable tools that can be used in future studies to test new treatments for CMT1A. By participating, you could help scientists gain a clearer picture of CMT1A, which may lead to better ways to manage and treat this condition in the future.
Em resumo
Sobre o que é este estudo?
This research is looking at Charcot-Marie-Tooth disease type 1A (CMT1A), which is a condition that affects the nerves, mainly in your arms and legs. We know that CMT1A can affect people in different ways, even with the same diagnosis. This study aims to understand why this happens and to find ways to predict how the disease might change over time for each person.
To do this, researchers will follow 60 people with CMT1A for two years. They will collect information through physical check-ups, special tests that look at how your nerves are working (called electrophysiological records), scans of your muscles (Muscle MRI), and blood samples. By gathering all this information, they hope to discover important clues that explain the differences seen in people with CMT1A.
Ultimately, this study wants to find better ways to measure how CMT1A affects people. These new measurement tools could then be used in future research to test new medications or treatments. This means that if this study is successful, it could pave the way for more effective clinical trials and potentially better treatments for CMT1A down the line.
Pontos principais
- This study aims to better understand Charcot-Marie-Tooth disease type 1A (CMT1A).
- It will follow 60 people with CMT1A for two years.
- Researchers want to find ways to track disease changes and predict its progression.
- Data from physical exams, nerve tests, MRI scans, and blood samples will be collected.
- The goal is to develop better tools for testing new treatments in the future.
- You will not receive any new medicines as part of this study.
Quem pode ser elegível?
To join this study, you must have Charcot-Marie-Tooth disease type 1A (CMT1A), and your diagnosis needs to be confirmed by a genetic test showing a specific change on chromosome 17.
There are certain reasons why you might not be able to participate. For example, if you have other health conditions that affect your nerves, like diabetes, or if you have diseases such as HIV or cancer. If you've had a significant health issue get worse in the last month, or if you've had certain injuries or surgery recently, you also wouldn't be able to join.
Additionally, you can't be pregnant or breastfeeding. If you're taking certain anti-inflammatory medications, have issues with alcohol or drug misuse, or if you have a medical reason that prevents you from having an MRI scan, you wouldn't be able to take part. The study is open to both men and women between 18 and 70 years old.
Este estudo pode ser adequado para você?
Responda a estas perguntas rápidas para ver se você pode ser elegível. Este é apenas um guia — a decisão final é da equipe de pesquisa.
- Do you have a confirmed diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) by a genetic test?
- Are you between 18 and 70 years old?
- Do you have any other significant health conditions like diabetes, HIV, or cancer?
- Você está grávida ou amamentando?
- Você pode fazer uma ressonância magnética?
- Have you had any major health issues or recent surgery (in the last 6 months)?
O que envolve a participação?
If you decide to take part in this study, you will be followed by the research team for two years. During this time, you will have several appointments where doctors will perform physical examinations to check on your condition. You will also undergo special tests that measure how your nerves are working, known as electrophysiological recordings. Your muscles will be scanned using an MRI to get detailed pictures.
Blood samples will be taken at different points during the study. These samples will be analysed to look for specific markers related to your disease. The researchers will not be giving you any new medication as part of this study. You should expect to have regular visits spread out over the two-year period, but the exact number and timing of these visits will be explained in detail by the study team.
Riscos e benefícios potenciais
Localizações (2)
- Assistance Publique Hôpitaux de MarseilleCódigo postal verificadoMarselha, França
- CHU Gui de Chauliac, CHU MONTPELLIERCódigo postal verificadoMontpellier, France
Perguntas frequentes
What is Charcot-Marie-Tooth disease type 1A (CMT1A)?
CMT1A is a common inherited condition that affects the nerves, mainly in your arms and legs. It can cause muscle weakness and numbness, and people experience it differently.
Receberei algum novo tratamento neste estudo?
No, this study is observing how CMT1A progresses and is not testing a new medication or treatment. You will continue with your usual medical care.
Por quanto tempo estarei envolvido no estudo?
If you join, you will be part of the study for two years. You will have several appointments during this time.
What kind of tests will I have?
You will have physical check-ups, nerve tests (electrophysiological records), muscle scans (MRI), and blood samples taken.
Posso sair do estudo se mudar de ideia?
Yes, you can leave the study at any time, for any reason, without telling anyone why. It will not affect your medical care.
Como saber mais
Sempre consulte seu médico ou especialista antes de decidir participar de um estudo.
Discussão
Discussão da comunidade
Desenvolvido pelo nosso fórum em community.patient.info. Por favor, seja respeitoso — isto não é um conselho médico.