Clinical trials on Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. DMD primarily affects boys, with symptoms usually starting between the ages of three and five.

Complications of Duchenne Muscular Dystrophy

The progression of DMD can lead to several severe complications:
  • Muscle weakness: Initially affecting the muscles of the hips, pelvic area, thighs, and shoulders, and later the skeletal (voluntary) muscles in the arms, legs, and trunk.
  • Cardiac issues: Heart muscle deterioration is a common complication, leading to conditions such as cardiomyopathy.
  • Respiratory difficulties: Weakness in the diaphragm and other muscles involved in breathing can necessitate ventilatory support.
  • Scoliosis: As the muscles weaken, abnormal curvature of the spine can develop.
  • Mobility issues: Progressive muscle weakness typically leads to the loss of walking ability by the early teens.
  • Swallowing and speech difficulties: Weakness of muscles involved in speech and swallowing can lead to communication difficulties and nutritional issues.

Treatments for Duchenne Muscular Dystrophy

There is no cure for DMD, but treatments aim to manage symptoms and improve quality of life:
  • Corticosteroids: Drugs like prednisone can help increase muscle strength and slow muscle damage.
  • Heart medications: To manage cardiomyopathy, medications such as ACE inhibitors or beta-blockers are used.
  • Respiratory care: Including ventilators and other breathing aids to assist with lung function.
  • Physical therapy: Maintains joint flexibility and delays the progression of muscle contractures.
  • Surgery: May be necessary to correct severe scoliosis or to address complications from muscle contractures.

Prognosis of Duchenne Muscular Dystrophy

  • Progressive condition: DMD continuously progresses, generally leading to premature mortality.
  • Loss of mobility: Most patients are wheelchair-bound by their early teens.
  • Life expectancy: Advances in cardiac and respiratory care have extended the life expectancy into the 30s and beyond for some individuals, though this can vary widely.
  • Quality of life: Ongoing medical care, supportive therapies, and adaptive devices help improve quality of life.
Despite significant challenges, ongoing research and improved treatments continue to enhance the quality and duration of life for individuals with Duchenne Muscular Dystrophy.
  • CT-EU-00111939

    Exploring the safety and effects of SQY51 in Duchenne Muscular Dystrophy Patients

    The Avance1 study is being launched to evaluate the safety and efficacy of SQY51, a novel treatment for Duchenne Muscular Dystrophy. Initially, the study will undergo a 13-week Phase 1 to optimize the dosage for balance between safety and effectiveness, followed by a 32-week Phase 2a to assess the effects of varying doses. SQY51 will be administered via intravenous infusion. The trial aims to ensure participant safety while exploring the potential benefits of SQY51 for both children and adults diagnosed with this condition.  Participation is sought from those with a confirmed diagnosis, aiming to enlist 12 participants.

    • SQY51-new potential treatment for Duchenne Muscular Dystrophy
  • Exploring the Impact of ATL1102 in Boys with Duchenne Muscular Dystrophy

    This study is designed to test the effectiveness and safety of a new treatment called ATL1102. The trial is specifically for boys aged 10 to <18 who cannot walk (non-ambulatory).

    The study is divided into two main parts. In the first part, participants will be randomly assigned to receive either ATL1102 at doses of 25 mg or 50 mg, or a placebo (a treatment with no active drug), given as a weekly subcutaneous injection. This phase will last for 24 weeks and is double-blind, meaning neither the participants nor the researchers will know who is receiving the actual drug or the placebo.

    Following this, all participants will move into the second part of the study, where they will receive ATL1102 for another 24 weeks. This part is open-label, which means everyone will know they are receiving the active drug.

    The main goal of the study is to see how well ATL1102 can improve upper limb strength, which is crucial for daily activities. This will be measured using the Performance of Upper Limb (PUL) 2.0 score, a tool designed to assess upper limb strength in individuals with DMD.

    • ALT1102
  • Study on the effectiveness of Givinostat in Non-Walking Duchenne Muscular Dystrophy Patients

    This clinical trial is focused on testing the effectiveness, safety, and how well patients can tolerate a medication called Givinostat for those who have Duchenne Muscular Dystrophy (DMD) and can no longer walk. The study is designed for male pediatric patients aged between 9 to less than 18 years. A total of 138 participants will be involved, and they will be divided into two groups. One group will receive Givinostat, and the other group will receive a placebo, which is a substance with no therapeutic effect, designed to mimic Givinostat. This division will be done randomly and both the patients and the doctors will not know who is receiving the actual medication and who is receiving the placebo, making this a double-blind study.

    The main goal of this study is to see if Givinostat can help reduce muscle decline in patients with DMD who cannot walk, by looking at changes in upper limb function after 18 months of treatment. The safety and tolerability of Givinostat in these patients will also be closely monitored.

    Participants will be involved in the study for about 20 to 21 months, which includes a 4-week screening period to confirm eligibility, 18 months of treatment, and a follow-up period. At the end of the treatment period, all participants, regardless of which group they were in, will have the option to join a long-term safety study where they will receive Givinostat.

    • Givinostat
  • Exploring the Safety and Effects of BMN 351 in Duchenne Muscular Dystrophy Patients

    This research is designed to test a new treatment, BMN 351, for individuals with Duchenne Muscular Dystrophy (DMD). The main goal of this study is to understand the safety and tolerability of BMN 351 for participants. The study will closely observe participants’ reactions to the treatment, including any side effects experienced and how the drug is processed by their bodies.

    The study is organized into two parts and will involve approximately 18 participants divided into three groups, referred to as cohorts. Each cohort will receive different doses of BMN 351 through an intravenous (IV) line. The first cohort will start with a certain dose every two weeks, then transition to weekly doses. The other cohorts will begin with weekly doses at varying levels from the outset.

    The safety and effects of BMN 351 will be closely monitored throughout the study, which will last up to 73 weeks. This research aims to provide valuable information on how BMN 351 may benefit individuals with DMD, particularly in terms of safety and tolerance of this new treatment.

    • BMN 351
  • Exploring Delandistrogene Moxeparvovec for Duchenne Muscular Dystrophy

    The ENVISION trial is a research study focused on a new treatment for Duchenne Muscular Dystrophy (DMD), a condition that affects muscle strength. This trial is exploring a therapy called delandistrogene moxeparvovec, which is given through a vein. The purpose is to see if this treatment can improve muscle function by delivering a new gene to the body.

    This study is conducted on a large scale, involving many participants from different places, and is carefully controlled. Participants are randomly chosen to receive either the gene therapy or a placebo without knowing which one they are getting.

    The trial will go on for about 128 weeks (which is roughly 2 and a half years). An important part of the study is to see how the treatment might help with upper body movements, as these are essential for day-to-day tasks. Everyone in the study will eventually get a chance to receive the gene therapy, whether at the beginning or later on.

    • delandistrogene moxeparvovec
  • Testing the safety and effectiveness of a new drug on patients with Duchenne muscular dystrophy

    This study aims to test DYNE-251, a new medicine for people with a specific type of Duchenne muscular dystrophy (amenable to exon 51 skipping)- a muscle weakening disease. The goal is to evaluate if it’s safe, if people can tolerate it well, and if it helps produce a crucial muscle protein called dystrophin. Participants will be given DYNE-251 intravenous in the increasing doses in several stages. The study includes different phases, starting with a 24-week test period, followed by long-term observation. To measure the effects, the researchers will use a functional scale for motor abilities and a score for upper limb function.

    • DYNE-251- new potential medication for Duchenne muscular dystrophy
  • Exploring gene therapy for young children with Duchenne Muscular Dystrophy

    The study is focused on evaluating the safety and efficacy of the treatment ‘delandistrogene moxeparvovec’ in young children under the age of four diagnosed with Duchenne Muscular Dystrophy (DMD), a muscle disease associated with various challenges. The treatment aims to introduce healthy genes into the body to enhance overall functionality. Participation in the study spans approximately 264 weeks, equivalent to around 5 years.

    • delandistrogene moxeparvovec