LRRK2 study for Healthcare Professionals

Help your patients take part in cutting-edge Parkinson's disease research.

Why is this program being done?

ESCAPE Bio (ESCAPE) is developing a precision medicine intended to treat eligible patients with a genetic form of Parkinson’s disease (G2019S LRRK2). Up to 15% of cases of Parkinson’s disease have an underlying genetic cause yet many patients have never had genetic testing; often there is no family history of Parkinson’s even though the underlying cause is genetic.

This program will try to identify people with LRRK2 Parkinson’s disease who have a pathogenic mutation in the LRRK2 gene caused by the most common mutation (G2019S) by making free genetic testing available to them. The program will also try to gather additional information about the proportion of Parkinson’s disease patients who have this specific genetic form of the disease and aims to educate healthcare providers and patients about why it is important to have genetic testing if a patient has a Parkinson’s diagnosis.

A joint effort by:

Escape Bio, Engage and Sano logos

Benefits for qualifying patients

  • As part of the program, qualifying participants will receive free at-home DNA testing.

  • Patients will receive a free explanation of their genetic results from a qualified genetic counsellor if they test positive for the genetic mutation.

  • Have the chance to participate in research from home.

  • People who test positive for the genetic mutation and complete this program will automatically have the chance to be assessed for eligibility to take part in a planned future precision medicine treatment study.

Who is eligible for this program?

People with a diagnosis of Parkinson’s disease who are receiving a normal standard of care:

  • Who are not on any advanced therapies (for example deep brain stimulation or Duodenal infusion of levodopa/carbidopa gel)

  • Who have not received gene therapy

More about LRRK2 PD and genetic testing

What is LRRK2 PD?

LRRK2 (commonly pronounced “Lark-two”) is a critical protein that regulates cellular function and is produced from the LRRK2 gene. G2019S LRRK2 Parkinson’s disease is believed to be caused by a mutation in the LRRK2 gene leading to the production of overactive LRRK2. Most people with a diagnosis of Parkinson's disease have not been tested for LRRK2 mutations, however it is estimated that between 3% -30% of patients have this underlying mutation. ESCAPE Bio is developing a G2019S LRRK2 targeted treatment.

What are the benefits of genetic testing?

ESCAPE is developing a new therapy for patients with Parkinson's disease caused by a mutation in the LRRK2 gene. It is hoped that this therapy may be able to stop or slow the progression of the disease. Since most people with Parkinson’s disease have never been tested for LRRK2 mutations, ESCAPE is providing free genetic testing via mail which is an at-home saliva test. If a patient is found to have a mutation in the LRRK2 gene they will be invited to take part in certain clinical studies for patients with Parkinson's disease and this specific gene mutation.

How do LRRK2 gene mutations cause Parkinson’s disease?

Diagram shows two copies of the LRRK2 gene with no mutations (healthy), with icons of both the brain and the lungs and kidneys functioning well.

Healthy Individuals without LRRK2 Parkinson’s disease

All humans have two copies of the LRRK2 gene which produce LRRK2 protein. In healthy people both copies of the gene are normal and therefore produce normal LRRK2 which regulates normal cellular biology.

Diagram shows one copy of the LRRK2 gene with no mutations (healthy) and one copy with the Parkinson’s G2019S mutation. The lungs and kidneys icon shows them functioning well, but the brain icon shows a warning sign.

Patients with LRRK2 Parkinson’s disease

Patients with LRRK2 Parkinson’s disease usually have one normal gene and one mutated gene. This means that patients produce both healthy LRRK2 protein and an overactive form of LRRK2 protein. The overactive LRRK2 is believed to drive neurodegeneration, causing Parkinson’s disease, while the healthy LRRK2 continues to provide normal regulation to cells in other organs such as the lungs and kidneys.

Diagram again shows one copy of the healthy LRRK2 gene and one copy with the Parkinson’s G2019S mutation, but where both are crossed out (inhibited). The brain icon is now shown functioning well, but the lungs and kidneys icon shows a warinig sign.

Patients with LRRK2 Parkinson’s disease – Non specific inhibition

In order to slow or stop the disease, ESCAPE Bio believes that overactive LRRK2 needs to be nearly fully inhibited. However, if healthy LRRK2 is also inhibited by the same amount then it may not be able to regulate cellular function in other organs, thereby driving histopathological changes in the lung and kidney, which are hard to detect and may be associated with irreversible pathology if they go unchecked.

Diagram again shows one copy of the healthy LRRK2 gene and one copy with the Parkinson’s G2019S mutation, but only the mutated gene is crossed out (inhibited). The icons of both the brain and the lungs and kidneys are shown functioning well.

Patients with LRRK2 Parkinson’s disease – ESCAPE Bio’s approach

To overcome this, ESCAPE Bio is developing an investigational therapy aimed to nearly completely block mutant LRRK2 without significantly blocking healthy LRRK2. ESCAPE believes that this precision approach gives the best chance of slowing neurodegeneration in Parkinson’s disease and ultimately preventing disease in gene carriers, while avoiding side effects in the lung and kidney. The therapy is intended to be taken by mouth in pill or capsule form.

Qs and As

Some patients may not be eligible to take part in the free genetic testing program

To speed up recruitment for a natural history program we are first focusing on patients who have a higher likelihood of testing positive for the mutated gene from the free genetic testing program. If a patient does not meet the criteria now, we will offer to contact them again should we open up the screening program to a wider population of Parkinson’s patients.

Have questions?

Contact us or at support@geneticpd.com

Or if you'd like some help, please contact 1-855-LRRK2PD (1-855-577-5273)