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Active clinical trials for "Arthrogryposis"

Results 61-70 of 87

The Safety and Efficacy of Catheter-based Renal Denervation Using the Vessix™ Renal Denervation...

Autosomal Dominant Polycystic Kidney Disease

This study will test the safety and efficacy of the Vessix Renal Denervation system in the reduction of pain in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Withdrawn54 enrollment criteria

The Effect of High and Low Sodium Intake on Urinary Aquaporin-2 in Autosomal Dominant Polycystic...

Polycystic KidneyAutosomal Dominant

The aim of the study is to test the following hypotheses: that the function and/or regulation of AQP2 and /or ENaC in the principal cells is abnormal in autosomal dominant polycystic kidney disease. if an abnormal function of the principal cells is present in autosomal dominant polycystic kidney disease, this will become more pronounced at high and low sodium intake.

Completed15 enrollment criteria

The Kidneys Ability to Concentrate and Dilute Urine in Patients With Autosomal Dominant Polycystic...

Polycystic KidneyAutosomal Dominant1 more

The ability to concentrate and dilute urine is primarily regulated via vasopressin (AVP) dependent Aquaporin-2 water channels (AQP2 channels) in the kidney's collecting duct. Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder, characterized by the formation of cyst in the kidneys, causing gradual renal function-loss. Previous studies indicate that ADPKD patients have decreased urine concentration, higher plasma osmolality, and plasma AVP levels compared to healthy controls. Previous studies also indicate that ADPKD patients' dysregulated AVP is an important factor for the pathogenesis and progression of the disease. It is unclear whether ADPKD patients' ability to concentrate and dilute urine are different from those of other cause of chronic renal disease to the same degree. It is also unclear, what mechanisms cause the decreased ability to concentrate and dilute urine in chronic renal disease patients. The purpose of this trial is to investigate the difference in renal function during concentration and dilution test in a case-control, randomized, cross-examination study with ADKPD patients or other cause of chronic renal disease compared to healthy volunteers.

Completed6 enrollment criteria

Time Restricted Feeding in Autosomal Dominant Polycystic Kidney Disease

Polycystic KidneyAutosomal Dominant

The proposed research will determine the feasibility of a time restricted feeding intervention,a fasting regimen that restricts eating to a feeding window (8 hrs/day) for 1 year in adults with autosomal dominant polycystic kidney disease (ADPKD) who are overweight or obese. The study will provide valuable information on the intervention in terms of safety, adherence, acceptability, and tolerability. Last, this pilot trial will provide initial insight into biological changes including abdominal adiposity, changes in kidney growth and function, and markers of biological pathways related to the intervention.

Completed24 enrollment criteria

Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.

Autosomal Dominant Hypophosphatemic Rickets

The purpose of the study is to gain a better understanding of the effect of iron on fibroblast growth factor 23 (FGF23) in the inherited disorder, autosomal dominant hypophosphatemic rickets (ADHR). ADHR is an inherited disorder in which the body makes too much FGF 23 and causes low blood phosphorus levels and bone problems such as rickets (bowed legs in children) or bone pain and weakness in adults. This study is to test whether or not giving iron helps correct the high FGF23 and there by correcting the phosphate problem.

Completed10 enrollment criteria

Daily Caloric Restriction and Intermittent Fasting in Overweight and Obese Adults With Autosomal...

Polycystic KidneyAutosomal Dominant

The proposed research will determine the feasibility of delivering two behavioral weight loss interventions for 1 year in adults with autosomal dominant polycystic kidney disease (ADPKD) who are overweight or obese. The study will also compare these two interventions in terms of safety, acceptability, and tolerability. Last, this pilot trial will provide initial insight into a) biological changes and b) changes in kidney growth with each of the two weight loss interventions.

Completed26 enrollment criteria

Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic...

Autosomal Dominant Polycystic Kidney

Investigator initiated controlled multi-centre trial in a Prospective, Randomised, Open, Blinded Endpoint (PROBE) design. Patients will be randomised in a 1:1 ratio either to treatment with tolvaptan for six weeks followed by six weeks observation without trial medication or no tolvaptan treatment, but following the same visit and investigation plan as the subjects taking tolvaptan.

Unknown status12 enrollment criteria

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome

Freeman-Sheldon SyndromeArthrogryposis Distal Type 2A17 more

Freeman-Sheldon syndrome (FSS) is a rare muscle disorder present before birth, involving primarily problems of the face and skull and the hands and feet. This is a study of problems, experiences, helpful treatments, and quality of life focusing on patients with FSS but including patients with Sheldon-Hall syndrome (SHS), distal arthrogryposis type 1 (DA1), and distal arthrogryposis type 3 (DA3), also called Gorden syndrome. These and related disorders are very challenging to treat, partly because the big differences in individual patients and lack of information on previous clinical experience with treatment options. It is hoped the study will identify areas for further research in physiology and therapy. This study will cover all types of treatment [medical (non-surgical), including psychiatric, and surgical treatments], even unconventional. It also includes questions about effects on the patient's thoughts, feelings, quality of life, and relationship with siblings, family, and parents' and if any intervention was required or advised. This study will also look for similarities and differences in patients who meet the head and face part of the diagnostic criteria but do not meet all other parts and patients who met the full diagnostic criteria. There will be questions about problems or experiences to investigate if both groups of patients may have the same syndrome. Treatment success depends on getting a correct diagnosis.

Terminated6 enrollment criteria

Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease...

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Triptolide was shown in experimental studies to inhibit the cyst formation and growth in ADPKD models, while triptolide-containing formulation was revealed to potentially slow the disease progression in several proteinuric ADPKD patients in our clinical practice. It remains to be shown the effect of triptolide-containing formulation on total kidney volume (TKV) enlargement and renal function protection in ADPKD patients.

Unknown status13 enrollment criteria

Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease

Polycystic KidneyType 1 Autosomal Dominant Disease2 more

Sirolimus (SIR) has lead to a reduction of overall kidney size, a decrease in cyst density and general tubular cell proliferation in animal models, and to a reduction of the increase in creatinine and blood urea nitrogen by 34 and 39 percent respectively, as well as a reduction of cyst proliferation, expressed by a 30 percent reduction of overall kidney enlargement, a reduction in general cyst volume, and a reduction of the cyst volume density in the renal cortex in humans. However, despite promising data from animal- and in vivo studies, most mammalian target of rapamycin inhibitor (mTOR-I) studies in patients with autosomal-dominant polycystic kidney disease (ADPKD) produced only subtle if any clinically relevant effects on cyst growth and the preservation of renal function. In this study we will investigate if pulsed administration of SIR in a fixed weekly oral dose of 3 mg over 24 months compared to placebo significantly reduces cyst growth and preserves excretory renal function in patients with ADPKD and an estimated glomerular filtration (eGFR) rate below 60 mL/min per 1.73m2.

Unknown status24 enrollment criteria
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