What is Dystonia? Dystonia is characterized by excessive pulling of muscles leading to twisting movements or abnormal postures. Patients with dystonia can have virtually any part of their bodies affected. What is the Dystonia Coalition? The Dystonia Coalition, a part of the Rare Diseases Clinical Research Network, is an international collaboration of medical researchers and patient advocacy groups with a mission to advance the pace of clinical and translational research in the dystonias to find better treatments and a cure. What is the purpose of this research? This research includes four related projects each having different but overlapping goals. The Natural History (NH), Objective Measures (OM), and Biobank (BB) projects go together because they are related. The Patient-Centered Outcomes (PCO) project is optional and depends on the type of dystonia you have and its treatment. •The aim of the NH Project is to learn more about how dystonia may progress over time and what causes dystonia. •The aim of the OM project is to develop tools to measure the severity of symptoms objectively. •The aim of the BB project is to create a collection of blood samples for analysis. •The aim of the PCO project is to develop an app to monitor symptom severity Your participation is therefore very important to the success of this study as it will allow us to get a better understanding of this condition.

The focus of the study will be to look into what cisgender women consider to be important parts of physical arousal during sexual response. Several critiques have been made to the standard sexual assessment measures. The current standard may be missing important items of women’s sexual experience. We aim to explore what those are in a group of cisgender women. These findings will give us a better understanding if the current standard to assess sexual functioning is practical. It will allow the research team to give directions for changing self- measures of sexual function.

Myositis describes are a group of rare diseases that are characterized by muscle inflammation and weakness. Given the rareness of these diseases, our knowledge of how they develop, who they affect and how to optimally investigate and treat patients with myositis is still lacking. The purpose of this study is to recruit and collect data on patients with myositis to include in a Canada wide database. By collecting this information we hope to further our knowledge and improve the care of patients with myositis.

The foot is a highly complex structure that is formed of 26 bones. As such, it is virtually impossible to track the movement of each bone with the typical gold standard technique of motion capture routinely used in the field. The purpose of this research is to combine medical imaging of the foot with motion capture to create better estimates of how the foot bones move during running. This information will allow researchers to create more accurate estimates of foot bone overuse injuries such as metatarsal stress fracture.

The Hepatitis C Virus (HCV) infects 58 million people worldwide and over 250,000 Canadians. The virus disproportionately affects marginalized populations. It is a bloodborne virus that affects the liver and is most commonly spread through unsafe injection practices, sexual practices that lead to blood exposures, and unsafe health care (i.e., transfusion of contaminated blood and blood products). If left untreated, these infections progress to liver failure and potentially liver cancer or death. Current treatments for HCV include expensive drug combinations that can cure HCV in most but do not prevent reinfection if there is another exposure. At this time, there are no vaccines available to prevent HCV and the diseases that it causes.

Uterine fibroids are benign smooth muscle tumors of the uterus. They affect up to 70% of women by the age of 50. Fibroids can cause heavy vaginal bleeding resulting in anemia, pelvic pressure, pain as well as bowel and bladder dysfunction. Fibroids can also cause infertility and complications during pregnancy and delivery. Laparoscopic radiofrequency ablation of uterine fibroids is a novel minimally invasive surgical treatment that is uterine preserving and thus fertility sparing. The study evaluates patient outcomes after laparoscopic radiofrequency ablation of uterine fibroids, focusing on efficacy and satisfaction. The goal is to encourage more providers to adopt this uterine-sparing treatment to help a wider population of patients.

Parents of children with congenital heart disease are invited to participate in discussions with the researchers. The researchers will provide some 3D models of different heart conditions for participants and will ask questions to help understand how 3d models are perceived, and if they feel models are helpful to understand a diagnosis.The parents will be able interact with the models and ask questions about them during the focus group. The researchers will use what they have learned to create a survey for other doctors to assess their knowledge and attitudes towards using 3D models to help educate their patients about congenital heart disease.

Clitoral adhesions occur when the clitoral hood sticks to the clitoris, causing pain, sexual difficulties, and reduced quality of life. This condition is often overlooked, as many providers lack training to recognize or treat it, leading to delayed or missed care. To address these gaps, we will survey 387 health care providers about their knowledge, diagnosis, and treatment practices, and 100 patients about symptoms and experiences accessing care. Results will identify barriers, highlight gaps in knowledge, and guide provider education and treatment guidelines to improve patient care and outcomes.

We are doing this study to learn more about how safe and effective a new drug called AZD6793 is in treating COPD, reducing number of sudden COPD symptoms worsening (exacerbations) and also to better understand the disease and associated health problems. In addition, this study will help select the best effective and safe dose of AZD6793 to be used in subsequent clinical studies of participants with COPD.

This study is looking at a study drug called nizubaglustat and how it might improve symptoms in people with Niemann-Pick type C or GM1/GM2 gangliosidoses (Tay-Sachs, Sandhoff or GM2AB variant) disease. This study will be over 18 months and is being done to see how safe and effective nizubaglustat is in treating these diseases compared to placebo. Placebo looks the same as the study drug but does not have any medicine-related effects on the body.