Information for participants

On this page, we explain the purpose of the ICGNMD, and why the information and samples from participants is so vital to our work.

What is the purpose of the ICGNMD Study?

Neuromuscular Diseases (NMDs for short) are a group of medical conditions that affect millions of people around the world. Many are caused by changes in our DNA, and we call these “genetic conditions”.

We want to:

Link doctors and researchers around the world to identify the genetic causes of NMDs (and other genetic conditions that affect people’s nerves);
Improve our understanding of the clinical and genetic features of these conditions.

By taking part in our Study, you are part of an international effort to improve understanding of NMDs and other genetic conditions affecting nerves. Thank you!

Each ICGNMD partner country has set up its own very similar study and we will share and compare the data we collect across the world to understand global variation in what NMDs look like, and what causes them, for the first time.

It’s so important to work internationally when investigating NMDs, for two main reasons. The first is because individual NMDs can be quite rare in any one country, so pooling data from around the world can help to make important findings. The second is that, if we only look in one country (for example, the UK), we could miss important causes and differences in other countries. If we are to treat everyone with an NMD, we need to understand how each condition varies around the world.

What is a genetic condition and how will the ICGNMD look at these?

A genome is a set of instructions containing all the information your body needs to build, grow and maintain itself through your life. Your body is made of building blocks called cells, and almost every cell contains a copy of the genome.

A genome’s basic ingredient is the molecule DNA, assembled into very long chains. DNA has 4 different versions (represented by the letters A,T,C and G). Combinations of these letters code for the instructions our bodies use. For example, some stretches of DNA code for genes. Genes are instructions to make particular products in our bodies. Other stretches of DNA control which genes are used and which are turned off, in a given time of life or part of the body.

Although everyone’s genome is made of DNA, every person’s DNA code (or “genetic code”) is unique. Sometimes, people can have alterations in their DNA that cause medical conditions. This study is particularly interested in DNA alterations which cause neurogenetic and neuromuscular conditions. Some alterations are known, but there is still much to learn about how they actually cause problems in our bodies. Other alterations have not yet been found, or there is not yet enough evidence that they cause a medical condition.

For genetic conditions, it is often very important to compare the DNA code of someone with a medical condition with DNA from close relatives and unrelated, healthy people. This allows us to narrow down which DNA alterations might be affecting a medical condition (e.g. DNA alterations in healthy people are more likely to be part of the normal variation between individuals than actually causing disease). Sometimes, researchers need to analyse thousands of different people’s genetic and health data, from different population groups, to find which alterations are disease-causing.

Finding which DNA alterations cause a medical condition is potentially useful because:-

It might contribute to finding genetic diagnoses for people with a neuromuscular/neurogenetic condition and their families;
In helping to make new diagnoses, it might allow clinicians to understand how a condition might be treated or if it might develop over time;
It might help researchers to carry out further research on why a mutation causes a medical condition. In the future, these findings might help the development of new treatments or interventions;
It may help in informing people with a condition or their close family members who are worried about passing on a genetic disease to their children.

There are lots on resources on the internet that can tell you more about DNA! You can see a simple video (not related to the ICGNMD) here: [link = https://www.youtube.com/watch?v=ictAm2wSwtY] and a more detailed video here: [link = https://www.youtube.com/watch?v=gG7uCskUOrA]

What are the benefits of taking part in the study?

This study is research, and not medical care. We hope that, with your help, this study will help us to make important discoveries that will help other people in the future.

For some participants with symptoms suggesting a neurogenetic or neuromuscular condition, it is possible this study might help to find a genetic cause. However, there is no guarantee of this and we ask everyone to consent on the understanding that you will not directly benefit.

Who does the Study Recruit?

There are 3 important kinds of recruitment to the ICGNMD study!

People who are affected by a neuromuscular or neurogenetic condition;
People who are related to a person with a neuromuscular or neurogenetic condition;
People who do not have a neuromuscular condition, and are not related to anyone with one, and are needed to provide “healthy control” data for comparison purposes.

We often call people in Group 1 “affected participants” and Group 2 “related participants”. People in Group 3 are often called “unrelated, unaffected participants”.

How does recruitment work?

Each study around the world follows the same simple principles!

Step 1: A member of the local ICGNMD team will talk to you about the Study and ask if you want to take part.

Step 2: If you are interested, they will give you information about the ICGNMD study and answer any questions you have.

Step 3: After you have thought about things, and asked all the questions you want, you will be asked to sign a consent form to take part in the ICGNMD study. Your written consent is needed for us to use information about you in the Study.

What happens to me as a participant in the Study?

This varies a little bit depending where in the world you live, and the rules in your local ICGNMD Centre. This will be explained to you at the start of the study and you will be asked to consent first. Any risks will also be explained to you.

In most cases:

Affected participants (the person living with an NMD) will be asked questions about their neuromuscular condition, their medical records will be looked at, and some tests may be done. A biological sample (usually blood) may be taken if it is essential.

Related participants (the relatives of someone with an NMD) will be asked questions, they may have some very simple tests and a biological sample (usually blood) may be taken if it is essential.

Unrelated participants (unaffected by an NMD) will be asked some very simple questions, they may have some very simple tests and a biological sample (usually blood) may be taken.

What data will the ICGNMD Study collect, who will see it, and how will you keep it safe?

Participant data is vital for the ICGNMD study. It is essential to treat participant data very carefully and protect it participants’ behalf.

Each ICGNMD Centre has its own, specific rules and information for participants about data sharing. Below is general information only: it does not replace the information you receive when you join the ICGNMD Study.

ICGNMD Data Collection:

Data Collected includes:

Data collected at your ICGNMD study meeting (e.g. test results, family history of illness) Data collected from your medical records (e.g. test results, medication) Genetic data generated by the ICGNMD study

Your local ICGNMD Team will need to collect your name, hospital number(s) and contact details, because they must be able to link your ICGNMD record back to you. This kind of data is called “personal, identifying data”. This will not be shared with other ICGNMD research groups, nor with anyone outside of the ICGNMD. Instead, your personal identifying details are replaced with a unique “Study Code” which only your local team can link to you.

In some cases, your local ICGNMD team might ask for your permission to collect and use medical photographs, videos or images that could identify you personally. You can say that you do not want this to happen and still take part in the ICGNMD Study. If you agree to share images that could identify you personally, they can only be shared for restricted purposes, for example related to the ICGNMD study or teaching.

The ICGNMD Study will also receive existing genetic data, or generate new, genetic data about you. This may be small amounts of specific data about individual pieces of DNA code that can cause a neuromuscular condition, or it may be large amounts of data about all of your genetic code: it depends on the genetic test done.

For most ICGNMD Centres around the world, we will request permission to be able to contact you and to access your data in the future (after your first study visit) and also if you lose capacity or die, unless you withdraw from the ICGNMD Study.

ICGNMD Data Sharing:

Different data that we collect from you is shared in different ways.

Some data is only seen by your local ICGNMD team and key ICGNMD administrators:

Personally-identifying data (e.g. name, contact details, hospital numbers) will be collected and stored by your local ICGNMD team in case you decide to withdraw from the Study, or they want to contact you again. These personal details will NOT be shared with other ICGNMD research groups, nor with people outside of the ICGNMD. Instead, your personal identifying details are replaced with a unique “Study Code” which only your local team can link to you.

Some of your data is shared with other, approved researchers:

Some data we collect will be shared with approved researchers from around the world. This may include your health data, including your genetic data.

For some Centres, it may include your ethnicity data because this can sometimes help researchers and clinicians to understand what genetic changes cause a condition.

It may also include your age at the time the ICGNMD collected your information, but NOT your date of birth. Age can be important because some neuromuscular diseases only develop after a certain age, or a more common in young children.

IF you have explicitly consented to allow it, we may share videos or photographs that could identify you personally. This can be helpful where certain physical features (e.g. how a person walks or moves) can help to diagnose a condition. You can choose not to consent to share photos and videos and still take part in the ICGNMD study.

The people who we share your data with will only be allowed to use it for research. They will not be allowed to take steps to identify you personally or to try to contact you. Each ICGNMD Centre has its own rules about who exactly it can share data with, and can provide more information about this to you.

Approved individuals from regulatory bodies (e.g. study inspectors) may also be authorised to access your data, for the purposes of audit and to check the ICGNMD is running the Study properly.

ICGNMD Data Protection:

The full set of data we collect about you will be stored in secure, controlled-access databases.

Your local Centre may have permission to allow some of your data (always excluding your name, date-of-birth, contact details and hospital numbers) also to be stored in approved, secure third parties (including international databases and registries) to make comparing data from people affected by the same disease easier. Any international database or registry used must meet security and safety standards (safety features must include stored data encryption, user identity checks and password protected access).

Authorised, approved users may download and store ICGNMD data, where necessary, in a different country to your own. Before access is allowed, researchers will have to prove that they are genuine researchers employed by a genuine research organisation. They will also have to sign an agreement only to use your data for appropriate research, and not to share it with others inappropriately.

At the ICGNMD, we will do our best to protect your data and keep it confidential, there is always a risk of a breach of confidentiality and it is important to recognise this. For example, the study will collect genetic and health data about diseases that are often rare, including from people from ethnic minority backgrounds, so there may not be many people who the data could belong to. This might make it possible for someone to combine study data with other data (e.g. online social networking sites) to narrow down the identity of the participant to one or a small number of individuals. Also, if you consent for us to use photographs of you, it is possible someone may recognise you. As technology advances, there may be new ways of linking data back to you that we cannot predict today. We consider that the risk of your personal identity being discovered is extremely small, because of (1) the steps we take to use secure databases and (2) to check the identity of people we share data with, and (3) details such as your name, contact details and hospital numbers are replaced with a unique Study ID code.

How will participants know if the ICGNMD Study has been a success?

We hope that the ICGNMD Study will lead to lots of important new information, for example:-

To understand for the first time how common particular neuromuscular diseases are, around the world; To understand the different genetic causes of neuromuscular diseases, including any that are unique to a particular country;

Where we find new things, we will try to publish these as papers and reports in academic journals, and we will publish details of the papers and reports on this website.

To understand for the first time how common particular neuromuscular diseases are, around the world;
To understand the different genetic causes of neuromuscular diseases, including any that are unique to a particular country;
To get new insights into what causes some neuromuscular diseases;
To apply for more funding to explore novel treatments and interventions for neuromuscular diseases.

Where we find new things, we will try to publish these as papers and reports in academic journals, and we will publish details of the papers and reports on this website.

How do I withdraw from the ICGNMD Study?

The information from your local ICGNMD Team should include details of who to contact there if you decide to withdraw from the ICGNMD Study. If you are not sure, or you have lost the information, please contact the ICGNMD international administrator at icgnmd@ucl.ac.uk and we will connect you to the right people.

What if I have questions about the Study?

The information from your local ICGNMD Team should include details of who to contact there if you have questions about the ICGNMD Study. If you are not sure, or you have lost the information, please contact the ICGNMD international administrator at icgnmd@ucl.ac.uk and we will connect you to the right people.