Active clinical trials for "Arthrogryposis"

Freeman-Sheldon syndrome (FSS) is a rare human neuromusculoskeletal disorder present before birth, involving primarily limb and craniofacial deformities. The hypotheses in the present study of FSS and related conditions are: (1) FSS and related conditions are associated with higher rates of posttraumatic stress symptoms (PTSS), depression, and reduced quality of life than is observed in the general population; (2) persons close to an individual with FSS or related condition suffer similarly; and (3) current measures, which are single-disease specific (i.e., PTSS, depression, craniofacial deformities, or limb deformities), do not capture the unique picture of FSS and related conditions, which involve both limb and craniofacial deformities in an intellectually capable individual. There have been no studies looking at quality of life associated with FSS. Some authors have looked at quality of life in persons with facial differences; other authors have looked at bone and joint problems. Many other authors have looked at PTSS and depression caused by health problems and bad medical experiences. No authors have looked at these problems when they happen together, as they do in FSS. Because of the above, there may be differences in patients that have FSS versus patients in previous quality of life studies. The study will also develop and validate an outcomes-based quality of life survey for FSS and related conditions.

A randomized, open-label single-center study investigates the efficacy and safety of bilateral renal artery sympathetic denervation by catheter-based radiofrequency ablation on blood pressure and disease progression control in autosomal dominant polycystic kidney disease(ADPKD). The total number of study subjects will be 100. All of them have diagnosed with ADPKD and hypertension. Patients will be randomized 1:1 (50 with radiofrequency ablation(RFA), 50 only with drugs). Change in average office-based measurements of systolic blood pressure(SBP), average 24-hour systolic blood pressure by ambulatory blood pressure monitoring (ABPM) , incidence of office systolic blood pressure reductions of ≥10, ≥15 and ≥20 mm Hg , office diastolic blood pressure (DBP), number and dosage of blood pressure tablets, total kidney volume (TKV), total cyst volume (TCV), pain related to cystic kidneys and renal function, will be assessed at 12 months of follow-up. The safety variables will be assessed at every visit of follow-up.

This study evaluates the effect of regulating salt and protein intake on urinevolume in patients with ADPKD treated with a vasopressine V2 receptor antagonist (V2RA). The investigators hypothesize that changing sodium and protein intake will reduce V2RA-induced polyuria.

This phase II study examines the safety and efficacy of combination therapy for hypertension in patients with autosomal dominant polycystic kidney disease (ADPKD). This study examines the safety and efficacy of combination therapy by imidapril (ACEI) or cilnidipine (CCB) in ADPKD patients whose blood pressure is not controlled under 120/80 mmHg by candesartan (ARB) alone.

Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease."

The aim of this study is to identify families with ADPKD , characterize the phenotype and screen for mutations in known genes (PKD1 and PKD2, and then HNF1b and UMOD in PKD1 PKD2 negative carriers). Genome wide analysis will be performed in families without mutations identified.

The purpose of this study is to establish normal Magnetic Resonance quantitative values (tissues stiffness, Apparent Diffusion Coefficient values and Blood Oxygen Level Determination values for both renal cortex and medullary tissues and total renal blood flow) for young Autosomal Dominant Polycystic Kidney Disease patients with normal renal function, and normal young adult controls without Autosomal Dominant Polycystic Kidney Disease and normal renal function. Hypothesis: Newer Magnetic Resonance quantitative imaging parameters (tissue stiffness, Apparent Diffusion Coefficient, Blood Oxygen Level Determination levels, Magnetization Transfer and renal blood flow) will have different values in young adult ADPKD patients as compared to normal volunteers.

The aim of our study is to evaluate the correlation between quantified fibro-adipous infiltration of muscles on MRI assessed by MERCURI Score and the functional abilities (deficiencies, activity limitations and social participation of pediatric patients with arthrogryposis.

The aim is to evaluate the correlation of quantified fibro-adipous infiltration of muscles, using the MRI-based Mercuri score, with deficiencies, activity limitations and social participation in patients with arthrogryposis multiplex congenita.

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disease. We plan DNA analysis using the next generation sequencer (NGS) and examine the relationship between mutational types and clinical phenotypes. The accuracy of DNA analysis with NGS is tested by Sanger's method. The kidney and life survival curves will be compared between PKD1, PKD2 and non-ADPKD family members.