Clinical trials on Limb-Girdle Muscular Dystrophy Type 2I (LGMD2I)

Limb-Girdle Muscular Dystrophy Type 2I (LGMD2I) is a subtype of limb-girdle muscular dystrophy, which is a group of genetic disorders primarily affecting the shoulder and hip muscles. LGMD2I is caused by mutations in the FKRP gene, which impairs the modification of dystroglycan, a protein essential for muscle fiber stability. This type of muscular dystrophy typically manifests from childhood to young adulthood and is characterized by progressive muscle weakness and wasting. Complications of Limb-Girdle Muscular Dystrophy Type 2I include:
  • Progressive Muscle Weakness: Initially impacts the muscles around the hips and shoulders and gradually involves other muscles.
  • Cardiomyopathy: Heart muscle disease is a significant concern in LGMD2I, potentially leading to heart failure.
  • Respiratory Weakness: Weakness in the respiratory muscles can cause difficulties with breathing, especially during sleep, and may necessitate ventilatory support.
  • Contractures: Joint stiffness can occur due to the tightening of muscles and tendons, limiting range of motion.
  • Difficulty Walking: Progression can lead to difficulties in walking and may eventually require the use of mobility aids such as wheelchairs.
  • Fatigue: Common due to decreased muscle efficiency and the extra effort required for movement.
Currently available therapies for Limb-Girdle Muscular Dystrophy Type 2I include:
  • Physical Therapy: Aims to maintain muscle strength and flexibility, enhance mobility, and prevent contractures.
  • Steroid Therapy: While not curative, corticosteroids like prednisone can help to slow muscle degeneration and improve quality of life in some cases.
  • Cardiac Management: Regular monitoring and medications to manage heart function and prevent cardiomyopathy.
  • Respiratory Support: Noninvasive ventilation may be used to assist breathing as the disease progresses.
  • Orthopedic Appliances: Use of braces and wheelchairs to aid mobility and support weakened muscles.
Prognosis of Limb-Girdle Muscular Dystrophy Type 2I: The prognosis for individuals with LGMD2I varies based on the severity of muscle weakness and the onset of cardiac and respiratory complications. With appropriate management, symptoms can be controlled, and the progression of the disease can be moderated. Regular follow-ups with healthcare providers specializing in neuromuscular diseases are crucial to monitor the progression and adapt treatments accordingly. Advances in therapeutic research continue to improve the outlook for individuals with LGMD2I, emphasizing the importance of comprehensive care and symptom management.
  • CT-EU-00112454

    Study on the effectiveness and safety of BBP-418 for Limb Girdle Muscular Dystrophy 2I patients

    This clinical trial is focused on a new treatment option for individuals diagnosed with Limb Girdle Muscular Dystrophy 2I (LGMD2I). This study is designed to explore the efficacy and safety of a medication called BBP-418 (Ribitol), which is administered as an oral solution. The medication is in the form of granules that are mixed with water to create a drinkable solution.

    The aim is to include participants aged 12 to 60 years old, covering a wide range of individuals affected by LGMD2I. Throughout a 36-month period, the study will closely monitor changes in the muscle function and overall health of the participants to determine the effectiveness and safety of BBP-418 in treating LGMD2I.

    A key aspect being observed is the change from baseline in the North Star Assessment for Limb Girdle Muscular Dystrophy after 36 months of treatment. This will aid in understanding the impact of BBP-418 on muscle function. In addition, the frequency and severity of any treatment-emergent adverse events will be tracked to ensure the medication’s safety over the long term.

    This study is a randomized, placebo-controlled, double-blind study, meaning participants will be randomly assigned to receive either the BBP-418 treatment or a placebo, with neither the participants nor the study staff aware of which group they are in. This approach helps ensure the reliability of the study results.

    • BBP-418 (ribitol)