View clinical trials related to Arthrogryposis.
Filter by:The EMPA-PKD trial is assessing the safety of empagliflozin in patients with rapid progressive ADPKD with and without concomitant tolvaptan use by monitoring kidney growth and the rate of loss of kidney function.
Clinical trial of tamibarotene in patients with Autosomal Dominant Polycystic Kidney Disease
The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research is to: - Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. - Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better. - Further the development of future treatments. Participants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.
The primary purpose of the study is to understand the effectiveness, safety, and tolerability of encaleret when compared to standard of care (SoC) treatment in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1).
The aim of the study is Epidemiological Evaluation of a single-centre national cohort of patients with Arthrogryposis multiplex congenita (AMC)
The purpose of this study is to establish a registry of individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to learn more about the range of symptoms, changes in the structure of the brain seen on imaging, and learning difficulties that individuals with this disorder may experience. The investigators will obtain medical history, family history, MRI records, patient photographs, and genetic test results from individuals with confirmed or suspected CAGS. A subset of participants will also undergo a standardized neurobehavioral assessment. This data will be maintained on a secure research database. Sample collection will be offered to participants for the functional testing and the generation of iPSC cell lines, for neuronal reprogramming and phenotyping.
Primary Objectives - To assess the safety and tolerability of RGLS8429 - To assess the impact of RGLS8429 on ADPKD biomarkers Secondary Objectives - To assess the impact of RGLS8429 on height-adjusted total kidney volume (htTKV) - To characterize the pharmacokinetic (PK) properties of RGLS8429 - To assess the impact of RGLS8429 on renal function
The investigator proposes a pilot randomized clinical trial to determine the safety and tolerability of empagliflozin in ADPKD patients. To achieve this, the investigator will conduct a 12-month parallel-group, randomized, double-blind, placebo-controlled trial in 50 ADPKD patients with an eGFR 30-90 mL/min/1.73m2.
Patients with large hepatic cysts (> 5cm) may develop symptoms. These can be captured with the polycystic liver disease questionnaire (PLD-Q). Treatment of large hepatic cysts consists of aspiration sclerotherapy or laparoscopic fenestration. The safety and efficacy of both procedures has been explored in two recent systematic reviews yet no evident conclusion regarding superiority of either procedure could be drawn. The main objective of the ATLAS trial is to compare laparoscopic fenestration and aspiration sclerotherapy in patients with large symptomatic hepatic cysts on patient-reported outcomes.