The study aims to identify clues about Parkinson’s many years before any movement symptoms commonly associated with the condition appear. One reason we don’t have a cure for Parkinson’s is because the movement symptoms of the condition only appear once more than 50% of the nerve cells have already been lost. Ongoing research suggests that the nerve cells affected in Parkinson’s begin to be affected many years before symptoms appear but we don’t know enough yet about these early stages. If we could identify people at risk earlier – before the movement symptoms appear – we would be in the best possible position to slow, stop or even reverse Parkinson’s disease.

Our laboratory is in the process of developing a number of potential treatments to stop the early loss of these nerve cells within the brain and so prevent the disease developing. To test whether these treatments work will require many people in the earliest stages of developing Parkinson’s, who will be given the drug to test its effectiveness in a clinical trial. The end objective of the study is to provide information which will allow the identification of those carriers of the Gaucher gene with early signs of Parkinson’s, so when a potential drug to treat Parkinson’s associated with Gaucher disease become available, we are able to test its effectiveness in this group.

Ordinarily people involved in this pilot study will not discover their individual risk score. This is one of the first studies of its kind. So whilst our tests suggest some people may have an increased risk, at this stage we cannot be certain the scores have any meaning. We need large groups of people willing to take part so that we can begin to look at patterns of data in this GBA community.

The only exception to this will be if a viable potential treatment for Gaucher associated Parkinson’s disease needs to be tested and you are deemed to be at risk. In which case we will reveal your risk score in order that you can make an informed decision about whether you want to take part in a clinical trial to test whether the drug works.

Parkinson’s disease is a neurological disease. One person in every 500 has Parkinson’s disease. That's about 120,000 people in the UK. Most people who get Parkinson’s disease are aged 50 or over but younger people can get it too, but this is rare. People with Parkinson’s disease don't have enough of a chemical called dopamine in their brains, because some of the nerve cells that produce it have been lost. Without dopamine people can find that their movements become slower so it takes longer to do things.

The loss of nerve cells in the brain causes the symptoms of Parkinson’s disease to appear, which include tremor, rigidity and slowness of movement. There is currently no cure for Parkinson’s disease; however, there are effective drugs to control many of the symptoms. As a result many people with Parkinson’s disease live comfortable and productive lives, and are able to continue working. Click here for more information about Parkinson’s

Gaucher disease is a genetically inherited, enzyme deficiency disorder. People with Gaucher disease lack sufficient activity levels of an enzyme called glucocerebrosidase. This enzyme helps the body break down worn-out cells and as a result, a fatty substance called glucocerebroside accumulates in the spleen, liver, bone marrow and sometimes in the nervous system. Symptoms range from mild to severe and can appear at any time, from infancy to old age.

They may include anaemia, fatigue, easy bruising and a tendency to bleed. Enlargement of the spleen and liver may also occur as well as bone pain, demineralisation and fractures. Effective treatments are available for some manifestations of the disease; however there are currently no treatments available for the damage which Gaucher disease causes to the brain and for some of the other forms of Gaucher disease. For more information visit the Gaucher Association’s website.

In the 1990s doctors noticed that a larger number of family members of patients with Gaucher disease were developing Parkinson’s disease than would normally be expected. These family members were found to be carriers of the Gaucher gene. Research has established that both those affected by Gaucher disease (carrying two copies of the affected gene) and those who possess one copy of this affected gene have a 5- 30% chance of developing Parkinson’s disease by the age of 80.

2-10% of patients with Parkinson’s disease within the general population carry a copy of the Gaucher gene and this figure is even higher amongst certain groups such as the Ashkenazi Jewish community. This makes carrying the Gaucher disease gene the most significant genetic risk factor for Parkinson’s disease, across the whole population. At present there is no effective treatment for Parkinson’s disease caused by the Gaucher gene. The aims of this research is to discover more about the disease course so in the future we can give effective treatments for it as early as possible.

At present, the diagnosis of Parkinson’s disease is made clinically. This means that the doctor examines the person and takes a detailed history of their symptoms. Sometimes brain scans are used for uncertain cases but there is currently no conclusive test for Parkinson’s disease.

The early signs of Parkinson’s disease may include problems with movement like tremor, stiffness, slowness of movement, difficulties with handwriting and loss of facial expression and memory problems. Other symptoms, not related to movement, can also be present like loss of sense of smell, depression, constipation and sleep problems.

We are looking for people who have one or two copies of the Gaucher gene or those who are first degree family members (parents, siblings and children) and spouses of people who have one or two copies of the Gaucher gene.

Those under the age of 18 cannot participate; however, we may invite the relatives of carriers of the Gaucher gene who are younger than 18 to enrol on the basis that they may also be carriers of the Gaucher gene. Some people with Parkinson’s who know they carry the GBA gene will be eligible to take part.

We will ask you to read the Participant information sheet that you can download here:

• Participant information sheet People with Gaucher
• Participant information sheet Relatives of People with Gaucher
• Participant information sheet People with Parkinson’s

We will then ask you to sign the consent form which appears online once you have registered, that you can download here(Consent form version 1.3). We will ask you some general information about your name, age, gender, education and medical history. Once a year we will ask you to log in to our internet portal and complete an assessment. This will take 45 minutes to an hour and will involve answering a number of questions and carrying out some interactive tests which will assess your response times and memory. We will ask for permission to access your medical records to discover whether you have been previously tested for the Gaucher gene and if so what the result was.

The first time you take these assessments we’ll ask you to send us a saliva sample by post. This will be used to carry out genetic testing for the Gaucher disease gene (if you have not already had this done) and another gene known to increase the risk of developing Parkinson’s disease called LRRK2, which we know is more common in communities where Gaucher disease is common.

Each year we will contact you by email and ask you to repeat the online assessment part of the study and every two years we will ask you to complete a booklet testing your sense of smell. This will be sent through the post with a return stamped address envelope. If we have contacted you directly to ask you to enroll in the study you will have received a token by e-mail. Simply log in to our portal using that token and follow the instructions. If you would like to be considered but have not been contacted by the research team please get in touch here and you will be contacted by a member of the research team.

We envisage the study will last over several years. Although you will not be under any commitment to remain in the study for the whole duration, we hope you will be able to make yourself available for mostly online assessments (typically 45 minutes to an hour) every year.

This is because the primary value of the data we collect will be that it shows how these symptoms or patterns may evolve over time.

The first time you take part in Rapsodi after you have completed the online part of the study, we will send you a saliva kit in the post which we will ask you to complete and return your saliva sample to us. This saliva sample will be used to carry out genetic testing for the GBA gene and another gene known to increase the risk of developing Parkinson’s disease called LRRK2, which we know is found more often in communities where Gaucher disease is more common. Knowing the results of this test will be up to you. We will ask you upon enrolment in the study whether you would like to be given the result of a genetic test for the GBA gene or the LRRK2 gene, if you do not already know your status. You should think carefully about this decision. Those who carry one copy of the GBA gene have a 50% chance of passing it on to their children. If your partner also possesses one copy of the Gaucher gene (1% risk of the general population and 4% of the Ashkenazi Jewish community) there is 25% chance that your child may develop Gaucher disease, which in many cases is a treatable condition.

There is also a 5-30% risk of developing Parkinson’s disease associated with carrying one or two copies of the gene. Carriers of the gene may have siblings and parents who are also carriers, therefore the decision may have an impact not just on you but on others in your family. Again upon enrolment we will ask you whether you would like to know your LRRK2 status. You should think carefully about this decision. Those who possess the LRRK2 gene have a 70% risk of developing Parkinson’s disease by the age of 80. Carriers of the gene have a 50% chance of passing it on to their children. Carriers of the gene may also have siblings and parents who are carriers, therefore the decision may have an impact not just on you but on others in the family. If you would like to discuss any of this we are available to talk to you about this in more detail. Read for more information about patterns of inheritance.

By taking part in this study you will be helping us find ways of diagnosing Gaucher associated Parkinson disease at the earliest possible stage. This could potentially pave the way to better treatments and a cure. Should, as we envisage, a viable therapeutic intervention to prevent Gaucher associated Parkinson disease becomes available in the coming years, recruitment for any clinical trial of it is likely to be drawn from participants of the RAPSODI study. As a study participant you may be eligible for selection in any such trial. We are unable to offer any financial remuneration for taking part in the study. There are no major anticipated risks in being part of this study.

The information we collect will not be personally identifiable and will be entirely confidential. If we ask you to donate blood there is a risk of bruising at the puncture site. Those who undertake a lumbar puncture are at risk of headache as well as infection and bruising at the entry site. If we ask you to undertake a lumbar puncture these risks will be discussed in more detail at the time: you will be under no obligation to have this procedure and it will not affect your ability to participate in the rest of the study.

We ensure that all personal data is treated with utmost sensitivity and security and the study is designed to make this a key priority. All information and data we collect from you is stored safely and confidentially and complies with the Data Protection Act 1988. Your data is kept anonymous by separating your name and personal details from the data collection.

We do this by allocating codes to each participant and encrypting all data collection with the same technology used in international banking. Only a very small number of people from within the study team who have been approved and vetted will have access to the encrypted data. The data collection will only be used for the purposes of the study.

The next stages of research will be to introduce and test targeted medications in clinical trials. The end objective of the study is to provide information which will allow the identification of those carriers of the Gaucher gene with early signs of Parkinson disease, so when a potential drug to treat Parkinson disease associated with Gaucher disease becomes available, we are able to test its effectiveness on this group.

Rapsodi is a study designed to identify the very earliest stages of Parkinson’s associated with the Gaucher GBA gene. Our laboratory is in the process of developing a number of potential treatments to stop the early loss of these nerve cells within the brain and so prevent the disease developing. To test whether these treatments work will require looking at the data from many people who carry the GBA gene and to assess whether there are any emerging patterns that could predict some early changes.

On the basis of the data we collect, we may ask some participants to provide samples of urine, blood or in a few cases cerebrospinal fluid. We will not ask you to do this any more frequently than once every two years. Some samples like urine and pin prick samples of blood can be collected by yourself in your own home. Others, like some blood tests will be taken by a nurse, doctor or research associate, either within your home or at our research sites at the Royal Free or your local hospital. If we ask and you agree to donate cerebrospinal fluid this will be collected by a doctor at the Royal Free or another hospital. You do not have to give any of these samples, it is your choice and it will not affect your ability to participate in the rest of the study.

Participants may also be invited to donate biological samples to the study in the form of saliva, blood and urine. Increasingly we are recognising that there are chemicals contained in blood and urine that may further define an individual’s risk of future Parkinson disease.

Taking a blood sample may cause mild pain and carries a small risk of bleeding, bruising, or infection (in less than 1% of people). Members of the research team will collect blood samples. Approximately 30ml of blood will be taken (30ml is equivalent to 2 tablespoons). We may ask participants, by pricking their finger, to collect a very small amount of blood themselves and deposit it on a card. Participants will collect their own urine. 30ml (two tablespoons) of urine will be collected.

Saliva will also be used to carry out genetic studies assessing Parkinson disease risk. All samples will be labelled with a unique number so as to not identify the participant. Samples will be transported to the laboratories of University College London for storage and analysis. Additional tests may be requested from external companies and institutions if required. You will continue to have access to the general results of the study, including analyses of samples and data, when the analyses are reported in the medical literature. We will keep you informed of publications arising from the research.

If you have any concerns about any aspect of the study you can contact the research team rapsodi@ucl.ac.uk or if you have a complaint then National Health Service or UCL complaints mechanisms are available to you.

For independent advice and information you can contact the Royal Free Patient Advice and Liaison Service (PALS): phone: 0207 472 6446 or email: rfpals@nhs.net.

The study is supported by the Gaucher Association who we are working with to ensure the study is participant friendly and easy to join and that all information regarding the study and its progress is disseminated on a regular basis to participants and interested parties.

The study portal has been trialled and tested by people who carry the GBA gene and also the Parkinson’s UK participants research network to ensure it is user friendly and has been appropriately written and developed to be appropriate and for the maximum accessibility for people taking part.