Do you or does someone you know have Limb-Girdle Muscular Dystrophy 2I/R9 (LGMD 2I/R9)?

LGMD refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. In LGMD 2I/R9, signs and symptoms often develop in late childhood and may include difficulty running and walking, as well as pain and muscle cramps. The symptoms gradually worsen over time, and affected people generally require mobility assistance, such as wheelchairs.  

In patients with LGMD 2I/R9, the gene that may not work properly is the gene used to create a protein called fukutin-related protein (FKRP). FKRP is essential for normal muscle function. With the genetic mutations that cause LGMD, the proteins do not support normal muscle function and over time, this can lead to muscle injury and weakening in muscles (in your shoulders, hips, heart, and diaphragm [the muscle that helps you breathe]). 

There are currently no treatments available to treat LGMD 2I/R9. The standard medical management is supportive and may include: 

• Use of steroids and/or physical therapy (use of orthotics [foot support]) 
• Management of cardiac (heart) or respiratory (breathing) issues (use of non-invasive ventilation, such as oxygen tubes in the nose) 

Gene therapy is a way of potentially treating genetic diseases. It works by delivering genetic material into a patient’s cells to treat their disease.  

Researchers are investigating different ways that gene therapy can work to help people, including: 

• Introducing a working copy of a gene into the body to help treat a disease 
• Turning off a specific gene  
• Replacing a specific gene with a healthy copy of the gene 

Genes must be packaged for delivery into your body so they can reach your cells and produce effects. Often, portions of viruses unlikely to cause infection are used for this purpose and are referred to as “vectors.”  

Doctors are now researching the use of gene therapies for treating many different diseases, including LGMD 2I/R9. 

Clinical trials or clinical studies or clinical research studies are studies that help understand if a drug (in this case a gene therapy) can safely and effectively treat a disease. They play a crucial role in developing treatments with the aim of improving patient health. Watch our video to learn more.

Clinical trials are essential to ensure treatments are safe for the public, are given at the correct dose, use the best ways to administer them and enhance scientific knowledge of diseases, hopefully providing for better health outcomes. 

The term ‘investigational drug’ refers to a trial medication that has not yet received approval from regulatory authorities, such as the US Food and Drug Administration (FDA). In its investigational phase, it can only be given in clinical research studies and is not available for general use. These studies aim to evaluate whether the investigational medicine is safe and and and works the way it is supposed to before it can be approved for widespread medical use. 

Clinical trials have specific criteria, known as clinical trial eligibility criteria, which determine who can participate. These criteria are designed to help find patients with specific symptoms or a particular diagnosis, while excluding those with unrelated health conditions. By entering or enrolling patients who are similar in their characteristics, such as the type of mutation and disease progression, clinical trial eligibility criteria may help to ensure the outcomes of the trial accurately reflect the effects of the investigational drug being tested. Furthermore, these criteria play a crucial role in ensuring the safety of the patients involved. 

Clinical trials carry potential risks such as side effects, unknown treatment effects, extra medical tests, and time commitments. These are carefully assessed and monitored, and risks and benefits are carefully weighed by the Ethics Committees reviewing and approving the conduct of the trial. Clinical trials follow a specific set of standards and are closely regulated to help ensure the safety of all participants. Safety measures and informed consent processes help participants understand and manage these risks. 

People take part in clinical trials for different reasons. Some may take part because they want to learn more about their disease and potential new treatments. Others volunteer to take part because they want to help researchers learn more about (the treatment of) a disease to potentially help them and others in the future. 

Yes, taking part in this study is voluntary.  You may receive detailed trial information, can ask questions, and decide freely. Informed consent ensures you understand the trial and can withdraw at any time without any penalty and without affecting your care or rights. 

If you decide to withdraw after you have received the gene therapy, the gene therapy cannot be removed from your body. Gene therapy does not wash out of your body over time and cannot be reversed.  

At myTomorrows, we assign a dedicated Patient Navigator to each patient. Your dedicated Patient Navigator will provide support throughout the entire process, from assessing your potential trial eligibility to addressing any questions you may have about the trial enrollment. 

Our Patient Navigators are professionals with medical background and are closely supervised by our team of medical doctors. They are proficient in languages such as English, Spanish and Arabic, ensuring effective communication and understanding with patients from diverse backgrounds. 

Yes, our services of providing information about clinical trials and how to access them are always free of charge.