This study aims to understand whether women with muscular dystrophy (MD) encounter problems if they undergo a C-section. The goal is to find the safest way for these women to have babies while reducing the chances of complications for both the mom and the baby.
There are three main questions this study aims to answer: First, do C-sections cause more issues for women with MD compared to vaginal births? Second, do these issues change based on factors like obesity or race when women with MD have C-sections? Third, is it safe for women with MD to attempt vaginal births after they had a previous C-section? To find answers to these questions, the study will use data from the 1999-2020 National Inpatient Sample in the United States. The study will use a Cohort Study consisting of women with MD who gave birth during that time and then determine the issues linked with C-sections.
The study will address challenges faced by pregnant women with MD. By providing insights, the results of this study can help doctors and women with MD make better decisions about childbirth. Ultimately, this study has the potential to improve the well-being and safety of mothers with MD and the health of their newborns.
Duchenne Muscular Dystrophy (DMD) is a serious disease that mainly affects boys, with about 1 in every 3,500 males being affected. Muscles from people with DMD get damaged when they contract, leading to muscle weakness. Unlike muscle from healthy individuals, the muscles can’t repair themselves properly, and this gets worse over time. Right now, there is no cure for DMD, and even the gene and cell therapies in development might not completely fix the problem. The most used treatment is a type of medication called corticosteroids. They can help people with DMD live longer, but using them for a long time can cause problems like muscle shrinking, metabolism issues, and altered hormone levels. This study aims to find other drugs that can fix muscle cell damage without causing problems like corticosteroids do. Based on current research, it is possible that existing medications might be able to reduce the damage to muscle cell membranes when they contract in DMD. To test this idea, this study aims to develop a new way to examine muscle damage within the lab. This method can be used to test medications that are already approved for other purposes to see if they can reduce muscle damage and help with repair. Through this research, new ways to use existing medicines can be developed that are safe for people with DMD.
Duchenne muscular dystrophy (DMD) affects about 30,000 boys in North America, making it the most common family-inherited disease that begins during early childhood. In people with DMD, their bodies cannot correctly make the protein dystrophin. Because of this, their muscles are easily damaged and break down. Scar tissue forms, making it harder for muscles to work. Most patients die in their mid-twenties. Currently, DMD has no cure. Most DMD research is based on replacing dystrophin to build back healthy muscles. However, when boys are diagnosed with DMD around 3-5 years old, their muscles struggle to get enough oxygen and nutrients because of their poor blood supply. This significantly impairs muscle repair and makes efforts to replace dystrophin more difficult. Few studies have focused on improving blood flow to the affected muscles. Excitingly, there is now evidence of how blood flow is changed. This study suggests blood vessels are leaky, and the protein Angiopoietin -1 (Ang-1), which normally closes blood vessels, is lower in DMD-affected muscle than usual. This finding has led to the primary goal of this project: to determine if Ang-1 can close blood vessels and improve the chances of repairing muscle in lab-grown muscle by replacing dystrophin.
Wheelchairs are often provided to people with Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and myotonic dystrophy type 1 (DM1) when they are not able to walk anymore. However, giving someone a wheelchair alone does not guarantee they will use it safely or properly. Many people who use wheelchairs need help from others to get around and they can not always do the things they like to do. This can lead to isolation, stress, and reduced quality of life. In addition, poor use of a wheelchair could lead to accidents and injuries. Previous research has recently showed that people with ARSACS have lower wheelchair skills than other adults who use wheelchairs, and that teaching wheelchair skills to people with ARSACS seems to work. This study will test the program with more people with ARSACS and DM1 to see how it can improve wheelchair mobility and confidence. This study will also examine people’s expectations and experiences with wheelchair training. People who take part in this research will answer questions before and after wheelchair training, and follow-up 3 months later to explain their wheelchair use. The results of this study may improve how therapists provide training for wheelchair use, which may improve mobility, participation, and quality of life for people with ARSACS and DM1. Learning just one wheelchair skill could be life-changing. It could mean the difference between leaving the house or not, which could impact the ability to shop for groceries, see friends, or to have a job.
Adult onset myopathies are a group of conditions which are exceedingly difficult to diagnose despite the availability of genetic testing. The majority of cases do not obtain a genetic diagnosis, and other investigations such as muscle biopsy or MRI may not be specific enough to help diagnosis in many cases. Current research has worked on new tools for this. This study will conduct sequencing of RNA from single muscle cells using a new method developed by the research team. This will compare patients with muscle weakness to those with normal muscle. The results of this study will highlight differences in the cell proportions between groups which in turn will help people get a diagnosis for muscle disease in the future.
This study aims to discover a new way to treat spinal muscular atrophy (SMA) in babies before they are born. At the moment, treatment is given to babies after they are born, but this study aims to determine whether the treatment works better if given to the baby while the mother is still pregnant. This study will use mice with SMA to see if giving the treatment to the mother can stop the disease from causing problems in the baby. The results of this study have the potential to If this research works, it could mean that treating the mother with before the baby is born might be a new and better way to treat SMA patients.
Dysferlinopathies are a rare type of muscle disease that leads to wheelchair use for most patients by the time they reach 40 years old. Dysferlinopathies affect several Canadians, most notably those of Indigenous or Acadian origin. There is currently no cure for dysferlinopathies, which are caused by spelling errors in the gene DYSF. These errors are also present in the DYSF messenger RNA (mRNA), needed to produce the protein dysferlin, which is important for repair of muscle cells. Before being used to produce protein, the DYSF mRNA must go through a process called splicing to keep only some sections called exons. Treatments for other muscle diseases change splicing to exclude certain exons that contain errors. This leads to an improvement in symptoms. This strategy shows promise for the treatment of dysferlinopathies, however it is important to better understand DYSF splicing and how modifying splicing could impact the function of DYSF mRNA. This study aims to study how DYSF mRNA is spliced, where it is located, and how much exists in healthy muscle cells. New technology that allows to read each copy of DYSF mRNA from start to finish will be used. Then, how the location and levels of DYSF mRNA change when its splicing is modified will be examined which will allow for finding which errors in DYSF can be targeted by modifying splicing. This could lead to new treatments that would improve the lives of those affected by dysferlinopathies.
This study focuses on Duchenne Muscular Dystrophy (DMD), a serious muscle disorder. People with DMD eventually need help to breathe, and currently, doctors decide when to start this help based on symptoms and sleep tests, which can be slow. This study aims to change this by using artificial intelligence (AI) to predict when patients will need breathing support. This early warning can lead to better care and improved health. The AI tool developed for this study can also be used for other similar disorders. By using this new approach, this study can help doctors manage breathing problems in muscle disorders more efficiently. The findings from this study also have the potential to lead to new ways to treat and manage these disorders. In short, this study is creating a new way to help people with DMD, which could also help many others with similar health issues.
Myotonic dystrophy type 1 (DM1) is a rare health condition that affects muscles and other body systems. It is more common in the province of Quebec. This condition can make muscles weaker over time, and it can be though for people with DM1 to do daily activities, like cooking or managing money. When discussing DM1, muscles are usually the main focus but there are also “invisible” problems, like forgetfulness and not feeling motivated, also known as cognitive problems. There is limited research on how these cognitive problems affect the lives of people with DM1, their families, and healthcare providers. This project aims to understand how cognitive problems impact daily life by using different research approaches like observing how people with DM1 do everyday tasks, completing interviews with participants, their caregivers and healthcare providers. Through these research approaches, the results of this study will identify the most important cognitive problems and how they impact certain activities. The results of this study has the potential to improve services and guide future treatments for cognitive problems among people diagnosed with DM1.
Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder arising from mutations in the DMD gene, encoding the dystrophin protein. While the most common mutations involve the deletion of single or large exons, intra-exonic insertions and deletions represent approximately 3% of DMD mutations. This study will examine genetic mutations in patient myoblasts, mouse models and in vivo investigations to design and evaluate a CRISPR-Cas9 nuclease. The most efficient design will be selected and tested on a humanized mouse model. This research serves as proof of concept, and it holds promise to be adapted for other hereditary diseases sharing similar mutational profiles.
