The GBA1 gene encodes an enzyme involved in cellular waste processing. Mutations in the gene mean that the enzyme may not function properly, which can increase the risk of developing Parkinson’s.

Yes, everyone who registers, consents, and meets our eligibility criteria will receive a genetic sampling kit.

Genetic testing results typically take between 6-12 months to complete. This timeline accounts for multiple testing stages your DNA sample undergoes, including the complex sequencing required for the GBA1 gene. We are constantly working to reduce this timeframe wherever possible and return results as quickly as possible.

Some trials have eligibility criteria which asks for participants to know their genetic status. This means for trials like ASPro-PD Phase III Ambroxol, you will need to receive your sequencing results before being eligible. 

If you have not received your results in the predicted timeframe and you are concerned, you can contact the PD Frontline mailbox for an update (pdfrontline@ucl.ac.uk). Please note that we release results as soon as they are available.

Sometimes, we are unable to sequence saliva samples if they have any contaminants in the sample. This could be food, drink, or any medications taken before providing the sample. Blood and saliva samples may also fail sequencing if the quality of DNA is not high enough. If your sample has failed sequencing, you will be contacted by the PD Frontline team to provide a new sample. 

PD Frontline is a genetic research study designed to advance our understanding of Parkinson’s Disease and improve future treatments. The study focuses on identifying genetic risk factors, particularly related to the GBA1 gene, and understanding how the disease progresses in people with Parkinson’s.

By participating, you contribute to building a comprehensive genetic database that will inform future clinical trials and research. Participants may request to receive their own genetic testing results, which can provide valuable information about their Parkinson’s Disease. Ultimately, this research aims to accelerate the scientific understanding of Parkinson’s Disease.

You have been invited to participate in PD Frontline because you have a clinical diagnosis of Parkinson’s Disease. PD Frontline is focused on understanding the genetic factors that contribute to Parkinson’s, and your participation would make a valuable contribution to this research. By taking part, you’ll help us build a comprehensive genetic database that will advance our understanding of the disease and support the development of new treatments.

Parkinson’s Disease is a neurological condition that affects approximately one in every 500 people. That is about 120,000 people in the UK. While most people develop Parkinson’s at age 50 or over, it can occasionally affect younger individuals too.

Parkinson’s Disease occurs when nerve cells in that brain that produce a chemical called dopamine begin to die. Without sufficient dopamine, movements become slower and everyday tasks take longer to complete. The loss of these nerve cells can cause the characteristic symptoms of Parkinson’s, including tremor, rigidity, and slowness of movement.

There is currently no cure for Parkinson’s Disease. However, effective medications can control many of the symptoms, allowing many people with Parkinson’s to live comfortable, productive lives and continue working. For more information about Parkinson’s Disease, click here.

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 a change in one copy of the GBA1 gene. Research has established that both those individuals affected by Gaucher Disease (changes in both copies of the GBA1 gene) and those individuals who possess a change in one copy of the GBA1 gene have a 5- 30% chance of developing Parkinson’s Disease by the age of 80.

Around 2-10% of patients with Parkinson’s Disease within the general population carry a copy of the GBA1 gene and this figure is even higher amongst certain groups, such as the Ashkenazi Jewish community. This makes carrying the GBA 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 in relation to the GBA1 gene. The aim 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.

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.

You can participate in PD Frontline if you have a clinical diagnosis of Parkinson’s Disease. The study is open to all adults up to the age of 90 with Parkinson’s, regardless of how long ago you were diagnosed or what stage of the disease you are experiencing.

You will also require a UK address for us to post a sample collection kit to.

To take part in PD Frontline, you must complete the online consent form, which is available when you register on the PD Frontline website.

Afterwards, you will be asked to provide some general information about yourself, including your age, gender, and medical history.

Once you have provided consent, we will send you a sample collection kit to provide blood and saliva samples. You will return these to us by post using a prepaid envelope provided. Your samples will be used for genetic testing, including the analysis of the GBA1 gene.

You may be contacted periodically with updates about the study’s progress, relevant opportunities for clinical trials, or if we need another sample.

You can find more information regarding the study in the Participant Information Sheet which can be found by clicking People with Parkinson’s Participant Information Sheet.

No. There is no obligation to take part in the study, and the decision to participate rests entirely with you. You also have the right to withdraw from the study at any point, and are not obliged to provide a reason.

Your involvement begins with providing a sample for genetic testing, which usually takes 6-12 months to complete. After we complete your genetic testing, we will securely store your genetic results in our database for several years. This database serves as a registry for relevant clinical trials. If you have given consent, we will notify you of any clinical trials that may be suitable for you and provide referrals for these opportunities.

When you participate in PD Frontline, we will send you a sample collection kit to provide a saliva and a blood sample. These samples will be used to carry out genetic testing for the GBA1 and another gene associated with Parkinson’s Disease, LRRK2.

Upon enrolment, we will ask you whether you would like to receive your genetic test results for the GBA1 and LRRK2 gene. In order to participate in PD Frontline you will need to consent to this term. You should think carefully about this decision, as genetic information can have implications for you and your family members.

GBA1: Carriers of one copy of the GBA1 gene change have a 50% chance of passing it on to their children. If your partner also possesses one copy of the GBA1 gene change (1% risk of the general population and 4% of the Ashkenazi Jewish community), there is a 25% chance that your child may develop Gaucher Disease, which in many cases is a treatable condition. Carrying one or two copies of certain GBA1 variants is associated with a 5-30% increased risk of developing Parkinson’s Disease. Since siblings and parents may also be carriers, your decision may have implications for other family members.

LRRK2: Carriers of a certain LRRK2 gene mutation have a 30-50% risk of developing Parkinson’s Disease by the age of 80. Carriers of the gene change 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 in more detail, you can contact us via telephone: 020 8016 8413 or email: pdfrontline@ucl.ac.uk.

Yes, you can contact a member of the study team by emailing: PDFRONTLINE@ucl.ac.uk

Alternatively, you can call a member of the team on 020 8016 8413.

No, participation in PD Frontline is individual - only you need to take part. Your family members are not required to provide samples or be involved in the study. However, if you decide to learn your genetic test results, you may want to consider sharing this information with family members, as they may also carry the same genetic variants.

By taking part in this study:

• You will receive your genetic test results, which can provide valuable information about your Parkinson’s Disease.
• You will be notified of relevant clinical trials that may offer access to new treatments where consented.
• You will contribute to important research that may lead to better treatments for Parkinson’s Disease.
• Your participation helps build a genetic database that will advance our understanding of Parkinson’s Disease.
• The information we collect will be entirely confidential.

There are no major anticipated risks in being part of this study but please be aware:

• Minor discomfort or bruising may occur when providing a blood sample.
• Learning about your genetic status may cause anxiety or concern, particularly as it may have implications for family members.
• Our genetic testing is intended for research purposes and is not clinically diagnostic.

You can withdraw at any time and for any reason from the study.

We will keep you informed about PD Frontline in several ways:

• You can find news and updates on our website
• You will receive a newsletter about the study’s progress every six months
• We actively post on our social media platforms including Instragram, X (formerly Twitter), LinkedIn, and Facebook.

Your data will be used for Parkinson’s disease research to identify genetic variants associated with Parkinson’s. Your data will help build a research database to advance understanding of the condition and will help in the development of a number of potential treatments to slow down the progression of Parkinson’s.

Your information is securely stored as confidential and not personally identifiable data.

You will only be contacted for another sample if the original sample you provided was unable to be processed for genetic testing. This can happen for a number of reasons, such as contamination, insufficient DNA quality, or technical issues during sequencing. If this occurs, we will contact you and send another sample collection kit for you to provide a replacement sample.

You may have previously consented to participate in our study. To comply with current general data protection regulations, we are required to ask all participants to provide updated consent. This regulatory requirement accommodates important changes to our study, including the addition of blood sample collection alongside saliva samples. Please be assured that if you have already provided a DNA sample, this reconsent process will not affect your eligibility for PD Frontline or any future clinical trials.

The blood sample will be collected via a Tasso+ collection kit, which attaches to the upper arm and collects blood in a simple manner. This process takes around 5 minutes and does not include needles or any sort of venepuncture.

Blood samples contain a higher concentration of DNA and fewer contaminants than saliva samples, which allows us to perform more accurate and comprehensive genetic testing. This is particularly important for the complex genetic analysis of the GBA1 gene. By offering both blood and saliva options, we can ensure the best possible quality of genetic results while providing flexibility for participants.

Our study is part of UCL research, which is focusing on GBA-PD and LRRK2-PD in relation to previous research which identified trends in these genes in Gaucher's Disease and Parkinson's Disease. GBA1 and LRRK2 variants are also the most common mutations indicated in Parkinson's Disease, so are more likely to be found in our participants than other, rarer mutations. Our sequencing is not diagnostic, which means that we test for mutations within the scope of our research but do not test all genes.

Our research is mainly funded by charities, which means that whole genome sequencing is not economically viable for us with the volume of participants on our study. We suggest to participants who would like other genes investigated for variants to contact their GP or clinician who may have information about how to access these services.

Having a GBA1 mutation increases the risk of developing Parkinson's disease, but it does NOT mean you will definitely develop Parkinson's Disease or that your symptoms will be any different. Everyone's Parkinson's Disease is unique and symptoms vary from person to person. In fact, most carriers of a GBA1 mutation will never develop the condition.

Parkinson’s disease is typically associated with moving more slowly, stiff muscles, shaking or tremors and changes in mood. People with a change in the GBA1 gene may develop these symptoms slightly earlier and the condition may progress slightly quicker. Some symptoms such as sleep problems, bladder issues, and anxiety may be more common.