Connective Tissue Disease

A repository of biospecimens and detailed phenotypic information collected longitudinally from adults with congenital heart disease and related conditions, with an aim to facilitate future research on biologic mechanisms of underlying disease, compensation and deterioration; biologic correlates of patient experience and functional status; associations between clinical characteristics and various biomarkers; and predictors of clinical outcomes.

The goal of this clinical trial is to learn if surgery helps with wrist ganglions in adults. The main question it aims to answer is: * Does surgery result in better patient-reported outcomes and satisfaction over a 6-months follow-up period? Researchers will compare surgery to conservative treatment (self-administered exercises and use of the hand as tolerated) to see if surgery provides superior outcomes. Participants will: * Be randomly assigned to receive either surgery or conservative treatment * Complete questionnaires about wrist pain, function, quality of life, satisfaction, and recovery at 3, 6, and 12 months

The goal of this clinical trial is to learn if Oleogel-S10 gel works to treat skin wounds from two types of inherited epidermolysis bullosa (EB): junctional EB (JEB) or dystrophic EB (DEB) in the Japanese population. Children and adults may participate. The trial also looks at the safety of Oleogel-S10 gel. The main questions it will answer are: * Does Oleogel-S10 gel close wounds from JEB or DEB within 45 days or reduce the size of the wounds? * Are there any medical problems when using Oleogel-S10 gel? * How much of the drug ends up in your blood? The study has 2 parts. In Part 1, participants will: * Apply Oleogel-S10 gel to the EB wound dressings at least once every 4 days for 45 days. * Visit the clinic once every 2 weeks for checkups and tests. If participants complete Part 1, they may participate in Part 2 if they choose to. In Part 2, participants will continue to receive Oleogel-S10 gel until the product is available to buy in Japan or until the trial is stopped by the company.

The primary goal of this study is to determine whether providing patient honoraria and/or outreach services can improve the attendance rate of appointments at an inner city rheumatology clinic in Vancouver, British Columbia. The main question it aims to answer are: * Does providing a financial honorarium ($20 for each follow-up appointment with completed bloodwork) improve attendance rate at an inner city rheumatology clinic? * Does providing a personalized outreach service for rheumatic diseases improve attendance rate at an inner city rheumatology clinic? The researchers will compare providing patient honoraria to providing both honoraria and outreach services, and compare each of these to the regular appointment schedule without honoraria or outreach. Participants will: * Undergo randomization to receive honoraria or honoraria and outreach services together * Complete surveys about their health and understanding of their rheumatic disease at baseline, 3-month, and 6-month intervals * Visit the clinic every month for check-ups and monitoring bloodwork if they are started on immunosuppressants for their condition

The AYLo study (AutoimmunitY and Loss of y - Investigating the Role of Hematopoietic Mutations and Mosaic Mutation in the Y Chromosome in Autoimmune Rheumatologic Diseases) aims to systematically investigate hematopoietic mutations, such as hematopoietic (mosaic) loss of the Y chromosome (mLOY), focusing on their underlying causes, pathophysiological significance, patterns of manifestation, and impact on disease progression in autoimmune, rheumatologic disorders. This research seeks to bridge existing knowledge gaps by exploring how such mutations influence immune homeostasis, cellular function, and susceptibility to inflammation-driven pathologies. Through the integration of advanced immunological profiling, the study aspires to uncover key mechanisms that drive the initiation, progression, and complications of autoimmune rheumatic diseases. These analyses will combine single nucleotide polymorphisms (SNP) arrays, multiplex assays, transcriptomics, and flow cytometry staining of peripheral blood mononuclear cells to delineate the interplay between hematopoietic mutations and immune dysregulation. A further objective is the development of a multimodal framework for disease-specific characterization, enabling precise mapping of mutation-driven phenotypes across diverse autoimmune conditions. This framework will incorporate clinical, molecular, and imaging data. Additionally, the AYLo study aims to explore the potential role of mLOY and other hematopoietic mutations as biomarkers for disease stratification, prognosis, and therapeutic response. The findings may open avenues for personalized treatment approaches, leveraging the molecular insights to inform targeted interventions and improve patient outcomes in autoimmune rheumatic disorders. By integrating translational and basic science approaches, this study has the potential to redefine current paradigms in autoimmune disease research and therapy.

The goal of this multicenter retrospective observational study is to provide an inventory of the specific and non specific cord vocal lesions that can cause dysphonia in patients with systemic autoimmune diseases. The main question it aims to answer is: * What are the main cord vocal lesions responsible for dysphonia in patients with a systemic autoimmune disease? * Is there a diagnosis delay regarding those lesions? * How are those lesions managed? Participants suffering from dysphonia in a context of a systemic autoimmune disease will be identified, with a review of their medical record.

This is an open-labeled, prospective clinical study aims at collecting and analyzing baseline characteristics of autoimmune inflammatory rheumatic disease (AIIRD) patients receiving sulfanilamide for preventive purposes, as well as subsequent follow-up data, in order to assess the efficacy and safety of the medication. Additionally, through a stratified analysis of risk factors, the investigators aim to identify the AIIRD population that would benefit most from preventive medication based on a favorable benefit-risk ratio.