NS-050/NCNP-03 clinical trial for boys with Duchenne Muscular Dystrophy

Duchenne is a neuromuscular disorder caused by different mutations (changes in the DNA) within the dystrophin gene, located on the X chromosome. These mutations prevent the body from making enough—or any—working dystrophin protein. Without functional dystrophin protein, the muscles become weaker and deteriorate over time. People with Duchenne experience challenges with mobility and typically lose the ability to walk between the ages of 8 and 16. As the disease progresses, it can weaken the muscles needed for breathing, causing respiratory difficulties. The heart muscle may also be affected, leading to a condition called cardiomyopathy, which makes it harder for the heart to pump blood efficiently. 

Duchenne mainly affects boys, occurring in about 1 in every 3,500 male births worldwide, and rarely affects females. Symptoms usually appear between the ages of 3 and 5, but signs of the condition can sometimes be noticed as early as the first year of life. 

Currently, there is no cure for Duchenne. However, available treatments focus on maintaining strength and mobility for as long as possible while improving quality of life. 

One commonly used treatment is oral glucocorticoids, which can help slow down the decline in muscle strength for some patients. However, glucocorticoids do not treat the underlying cause of the disease or prevent serious skeletal and heart complications. They can also have side effects such as behavioral changes, obesity, slower growth, increased risk of bone fractures, cataracts, or high blood pressure.  

Other supportive measures are also available to help improve quality of life, including physical therapy and assistive or adaptive devices. 

Clinical trials are research studies that help scientists and doctors explore whether a medical intervention, drug, or device, is safe and effective for humans. Before a new intervention, drug or device can be prescribed as therapy for a specific condition, it must go through clinical research to evaluate its potential benefits and risks. 

Clinical trials play a crucial role in developing treatments with the aim of improving patient health. They also help determine optimal administration dose and enhance scientific knowledge of diseases for better health outcomes. Watch our video to learn more.  

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) and the European Medicines Agency (EMA). As a result, it can only be utilized in clinical research studies and is not available for general use. These studies aim to evaluate the safety and efficacy of an investigational drug before it can potentially become approved for widespread medical use. 

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

Clinical trials carry potential risks like treatment side effects, unknown treatment effectiveness and risks associated with extra medical tests. These are carefully assessed and monitored, and risks and benefits are weighed by the Institutional Review Board/ Ethics Committees reviewing and approving the trial’s conduct. 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 seek to learn more about their disease and potential treatments. Others volunteer to take part because they want to help researchers learn more about (the treatment of) a disease to potentially help themselves and others in the future.  

Yes, taking part in this study is voluntary. You 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 the care or rights of the participants. 

At myTomorrows, we assign a dedicated Patient Navigator to each patient, parent or caregiver. Your Patient Navigator provides comprehensive support throughout the entire process, from assessing potential trial eligibility to addressing questions you may have during your child’s clinical trial recruitment journey. Our Patient Navigators are professionals with medical backgrounds and are trained to explain complex medical concepts. However, they cannot give medical advice and do not replace the role of your physician. Our Patient Navigator team offers dependable, multilingual support covering all time zones, ensuring effective communication and understanding with patients from diverse backgrounds. 

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

The purpose of the Meteor 50 study is to find out how well the investigational drug works, if it is safe, and if it is tolerable in boys with Duchenne. 

This clinical trial is evaluating NS-050/NCNP-03, an investigational drug classified as an “exon-skipping agent”. 

Our genes provide instructions (genetic code) to our cells to make proteins that play important roles in our bodies. People with Duchenne have a mutation (or error) in the genetic code for dystrophin protein. Dystrophin is a protein essential for maintaining the strength and stability of muscle cells. It acts like a shock absorber in muscle cells, helping to protect muscle fibers from getting damaged during contractions. Without functional dystrophin protein, the muscle cannot fully develop. It will be investigated if the investigational drug can “skip” over a specific section of the genetic code to correct an error, so that the body can still create a dystrophin protein. 

Yes, all participants will receive the investigational drug. Depending on when participants join the study, they may receive placebo for the first part of the study. The Placebo looks like the investigational drug, but it does not have any active ingredients. In the second part of the study these participants will receive the investigational drug.  

In Part 1, participants will have a 66% chance of receiving six gradually increasing doses of the investigational drug or a 33% chance of receiving placebo. Gradually increasing the dose will help determine the most appropriate dose of the investigational drug. Neither the participants nor the study investigator will know who has received the investigational drug until the end of Part 1. This is called “double-blind” and helps study investigators compare the results in those who had the investigational drug and who did not. After completing Part 1, participants will move on to Part 2, where they will all receive the investigational drug at the selected dose. Participants that join the study in Part 2 will receive the investigational drug at the selected dose from the start.  

Your child may be eligible to join this trial if they meet the following requirements* at screening: 

• Be between the ages of 4 and 14, assigned male at birth. 

• Have a confirmed diagnosis of Duchenne Muscular Dystrophy caused by an exon deletion in the dystrophin gene that is amenable for exon 50 skipping. 

• Be able to walk and stand without the help of assistive devices during the screening visit test. The participant can use assistive devices at home or for longer walks. 

• Be able to stand up from lying on his back without any help, in less than 20 seconds. 

• Be able to climb stairs without help or use of assistive devices during the screening visit test.  

• Has not taken any gene therapy. 

• Is not taking another investigational drug and have not taken one within the past three months.  

* If you are potentially eligible and interested in participating, there will be additional requirements which the study team will discuss with you. 

The study is currently being conducted at several sites in and outside of the USA. Interested patients living in or outside of the USA may be evaluated for potential eligibility. If deemed eligible for screening, the participant can be connected to the study site closest to him to minimize the travel burden. Travel and transportation for study participants to and from the study site for scheduled visits will be arranged.   

Participation in this study will last between 8 and 20 months, depending on whether participants are enrolled in Part 1 or Part 2 of the study.  

The study will include: 

• Informed Consent: As a parent(s) or legal guardian(s), you will be asked to review and sign an Informed Consent Form. This form explains the potential risks and benefits of your child’s participation in the study. The study doctor will go over this with you to help you decide whether you want your child to take part in the trial. If applicable, you will also be asked to sign a Health Insurance Portability and Accountability Act (HIPAA) authorization. 

• Pre-treatment period: In both Part 1 and Part 2, there is a pre-treatment period lasting approximately 5 weeks. During this time, various assessments will be performed to confirm your child’s eligibility and overall well-being, including genetic testing to confirm the Duchenne diagnosis amenable to exon 50 skipping, physical and neurological examinations, an electrocardiogram, and respiratory assessments. The study team will also review your child’s medical, surgical and treatment history. Two days before the first infusion, the pre-infusion visit will take place, where the final tests will be conducted. During this two-day visit your child may stay at the hospital overnight or you may be provided with somewhere to stay near the hospital.  

• Treatment period: The investigational drug or placebo will be given to your child through an intravenous (IV) infusion into the blood, requiring hospital visits for each session. Each infusion will take about 1 hour, followed by an overnight stay for monitoring.

If your child participates in Part 1, the overall treatment period takes about 36 weeks. This phase includes 6 treatment cycles, each lasting six weeks. During each cycle your child will receive an infusion of either the investigational product or placebo once a week for two weeks. After each infusion, your child will be observed for two weeks to check how they are doing. Then a group of experts will spend another two weeks reviewing the safety information to decide if it’s safe to move on to a higher dose.  

If your child continues in Part 2, there will be a waiting period of 3-5 months after Part 1 to allow the group of experts to review all safety information and select the dose for Part 2. The treatment period in Part 2 lasts 24 weeks, during which your child will receive the selected dose once a week.  

• Follow-up: About one week after the last investigational drug infusion in Part 2, your child will have one additional visit to the hospital for various tests to monitor their health. Additionally, the study team may call about one month after the final dose to follow up on their health.