A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
This study is gathering information about a rare, inherited muscle condition known as Congenital Myasthenic Syndrome (CMS). Specifically, it's focusing on individuals whose CMS is caused by changes in particular genes: DOK7, MUSK, AGRN, or LRP4. The main goal is to understand how the condition progresses naturally over time and how it impacts quality of life. Participants will attend up to four study visits. During these visits, the research team will carry out various assessments to evaluate symptoms and how the condition affects daily activities. This information will help researchers gain a better insight into these specific forms of CMS, which could be important for future understanding and care. It is not testing new treatments.
במבט חטוף
על מה המחקר הזה?
This study is called a "natural history study." This means it's designed to observe and understand how a health condition, in this case, Congenital Myasthenic Syndrome (CMS), changes over time without testing any new medications or treatments. Think of it like taking a careful, detailed look at the journey of the condition in different people.
The researchers are particularly interested in CMS that is caused by specific genetic changes in genes called DOK7, MUSK, AGRN, or LRP4. By studying people with these particular genetic causes, they hope to get a clearer picture of how these specific types of CMS affect individuals.
The main aim is to learn more about the day-to-day experience of living with these types of CMS, how symptoms develop or change, and how the condition impacts a person's quality of life. This knowledge is really important because it helps scientists and doctors better understand the disease, which is a crucial step towards developing better ways to manage and potentially treat it in the future.
נקודות עיקריות
- A study for rare muscle condition: Congenital Myasthenic Syndrome (CMS).
- Focuses on CMS caused by specific gene changes (DOK7, MUSK, AGRN, LRP4).
- Aims to understand how CMS naturally affects patients' lives.
- No new treatments are given; it's an observational study.
- Involves up to four study visits to measure symptoms and quality of life.
- Helps build knowledge for future research and patient care.
מי עשוי להיות זכאי?
To be considered for this study, individuals typically need to be at least 2 years old. They must have a confirmed diagnosis of Congenital Myasthenic Syndrome (CMS) specifically linked to changes in certain genes: DOK7, MUSK, AGRN, or LRP4. If you're 6 years or older, your muscle weakness symptoms, measured by a specific score, should be at a certain level.
It's important that participants and their guardians can understand what the study involves and are happy to follow the study's instructions. If you're currently taking certain medications called oral beta agonists (like salbutamol), you should have been on them consistently for at least three months.
However, you wouldn't be able to join if your CMS is caused by genetic changes other than DOK7, MUSK, AGRN, or LRP4. Also, if you have other medical conditions that might make it hard for the doctors to accurately assess your CMS symptoms, or if you are already taking part in another study that tests a new medicine, you wouldn't be eligible.
האם מחקר זה יכול להתאים לך?
ענה על השאלות המהירות הללו כדי לבדוק אם אתה עשוי להיות זכאי. זהו מדריך בלבד — צוות המחקר מקבל את ההחלטה הסופית.
- Are you at least 2 years old?
- Do you have a doctor's diagnosis of CMS due to DOK7, MUSK, AGRN, or LRP4 gene changes?
- If you're 6 years or older, do you experience some muscle weakness symptoms?
- Are you able to understand the study requirements and attend visits?
- Are you NOT currently trying out a new medication in another research study?
מה כרוך בהשתתפות?
If you decide to take part, you would attend up to four study visits. These visits will involve various assessments to check your symptoms and how your Congenital Myasthenic Syndrome (CMS) affects your daily life and overall well-being. The study doesn't involve any new medication or treatment, and there's no follow-up period after your last visit. Each visit will focus on collecting information about your condition to help researchers understand its natural progression. The total duration of your participation would depend on how many visits you complete.
סיכונים ותועלות פוטנציאליים
מיקומים (33)
- UC Davis Health - UC Davis Health Midtown Ambulatory Care Centerמיקוד מאומתסקרמנטו, ארצות הברית· גיוס
- Ann and Robert H Lurie Children's Hospital of Chicago - Main Hospitalמיקוד מאומתשיקגו, ארצות הברית· גיוס
- Hospital Sisters Health System (HSHS) - St Elizabeth's Hospitalמיקוד מאומתאו'פאלון, ארצות הברית· גיוס
- Harvard Medical School - Boston Children's Hospitalמיקוד מאומתבוסטון, ארצות הברית· גיוס
- מאיו קליניקמיקוד מאומתרוצ'סטר, ארצות הברית· פעיל אך לא מגייס
- Ohio State Martha Moorehouseמיקוד מאומתקולומבוס, ארצות הברית· גיוס
- The Children's Hospital of Philadelphia (CHOP)מיקוד מאומתפילדלפיה, ארצות הברית· גיוס
- Medical University of Viennaמיקוד מאומתוינה, אוסטריה· גיוס
- Hopital Universitaire de Bruxelles/ Academisch Ziekenhuis Brusselמיקוד מאומתבריסל, בלגיה· גיוס
- Pseg Centro De Pesquisa ClinicaS.Aמיקוד מאומתSão Paulo, Brazil· גיוס
- Universidade de Sao Paulo (USP) Hospital das Clinicas da Faculdade de Medicina (HCFMUSP)מיקוד מאומתSão Paulo, Brazil· גיוס
- The Children's Hospital of Eastern (CHEO), Ottawaמיקוד מאומתאוטווה, קנדה· גיוס
שאלות נפוצות
What is Congenital Myasthenic Syndrome (CMS)?
CMS is a rare, inherited muscle condition that causes muscle weakness, often affecting the eyes, face, and voice, but can also affect breathing and movement.
Will I receive any new treatment in this study?
No, this is a 'natural history' study. It means researchers are observing how the condition naturally progresses; it does not involve testing new medications or treatments.
What does a 'natural history' study mean?
It means the study observes and records how a condition changes over time, without trying to change its course with new medicines. It helps us understand the disease better.
How many times would I need to visit the study clinic?
You would need to attend up to four study visits to help collect information about your condition and its impact on your life.
Is my specific type of CMS included?
This study is for people whose CMS is caused by changes in specific genes: DOK7, MUSK, AGRN, or LRP4. If your CMS is due to other genes, you wouldn't be eligible for this particular study.
כיצד לגלות עוד
Sabine Coppieters, MD
תמיד התייעץ עם רופא המשפחה או המומחה שלך לפני שתחליט להשתתף במחקר.
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