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Arthrogryposis clinical trials

View clinical trials related to Arthrogryposis.

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NCT ID: NCT06461286 Not yet recruiting - Clinical trials for Autosomal Dominant Optic Atrophy

SAD of IVT PYC-001 in OPA1 Mutation-Associated Autosomal Dominant Optic Atrophy (Sundew)

Start date: July 2024
Phase: Phase 1
Study type: Interventional

A First-in-Human multi-centre, prospective, Phase1a, Single Ascending Dose (SAD) interventional study of PYC-001 in participants with confirmed OPA1 mutation (haploinsufficiency) associated ADOA.

NCT ID: NCT06435858 Not yet recruiting - Clinical trials for Autosomal Dominant Polycystic Kidney Disease

Short-term Effects of an SGLT2 Inhibitor on Divalent Ions in Autosomal Dominant Polycystic Kidney Disease

SIDIA
Start date: September 1, 2024
Phase: Phase 4
Study type: Interventional

This study aims to better understand electrolyte handling in patients with autosomal dominant polycystic kidney disease treated with the SGLT2 inhibitor Empagliflozin. Patients will be randomized into two groups and take Empagliflozin or a Placebo for 2 weeks with a wash-out period of 2 weeks. The primary outcome is tubular handling of the divalent ions calcium, phosphate and magnesium. Secondary outcomes include diuresis, safety and tolerability.

NCT ID: NCT06391450 Recruiting - Clinical trials for Autosomal Dominant Polycystic Kidney

Study of Empagliflozin in Patients With Autosomal Dominant Polycystic Kidney Disease (EMPA-PKD)

EMPA-PKD
Start date: June 14, 2024
Phase: Phase 4
Study type: Interventional

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.

NCT ID: NCT06372821 Not yet recruiting - Alzheimer Disease Clinical Trials

A Trial Evaluating the Effect of NIO752 on Tau Synthesis Measured by a Process Known as SILK

NIO-SILK
Start date: May 2024
Phase: Phase 1
Study type: Interventional

This study will assess if drug (NIO752) reduces production of a protein, tau, by the brain. Normally tau maintains the internal skeleton of nerve cells. In Alzheimer's disease (AD) it builds up in the brain, causing damage. Abnormal tau proteins cling to each other forming 'tangles' inside nerve cells, which interfere with how the nerve cells work, and eventually die. This is what causes the symptoms of dementia. It is thought that NIO752 reduces production of tau.

NCT ID: NCT06289998 Recruiting - Clinical trials for Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Study of Tamibarotene in Patients With ADPKD

Start date: December 22, 2023
Phase: Phase 2
Study type: Interventional

Clinical trial of tamibarotene in patients with Autosomal Dominant Polycystic Kidney Disease

NCT ID: NCT06192134 Not yet recruiting - Arthrogryposis Clinical Trials

Continuous Passive Motion Device for Children With Arthrogryposis

Start date: June 2024
Phase: N/A
Study type: Interventional

The Investigators are investigating a continuous passive motion device to exercise the knee of young children with arthrogryposis after they have had knee surgery.

NCT ID: NCT06140329 Recruiting - Clinical trials for Autosomal Dominant Optic Atrophy

Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation

Start date: February 28, 2024
Phase:
Study type: Observational

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.

NCT ID: NCT06130592 Not yet recruiting - Clinical trials for Arthrogryposis Multiplex Congenita (AMC)

Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound

FetUS
Start date: January 1, 2024
Phase: N/A
Study type: Interventional

The objective of the study is to evaluate the performance of muscle ultrasound sections on antenatal ultrasound between 21-24 amenorrhea weeks for the screening of muscle atrophy, in a sample of low-risk and high-risk pregnancies of congenital multiple arthrogryposis

NCT ID: NCT06065852 Recruiting - Fabry Disease Clinical Trials

National Registry of Rare Kidney Diseases

RaDaR
Start date: November 6, 2009
Phase:
Study type: Observational [Patient Registry]

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.

NCT ID: NCT05870007 Enrolling by invitation - Clinical trials for Chronic Kidney Diseases

Atorvastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease

Start date: May 2023
Phase: Phase 2
Study type: Interventional

Polycystic Kidney Disease (PKD) is the most common genetic disease leading to End Stage Kidney Disease (ESKD), affecting between 1 in 500-1000 individuals from every ethnic group. The autosomal dominant (ADPKD) form arises from a two-hit downregulation of proteins encoded by either PKD1 or PKD2. Although many potential therapies have been studied to slow progression of ADPKD, none to date have been proven to be both safe and effective in slowing disease progression. Cholesterol-lowering agents called statins have shown promise in the treatment of younger ADPKD patients, reducing inflammation and progression as assessed by kidney growth, but their utility appears to be limited in older populations and those with more advanced chronic kidney disease (CKD). Recent evidence suggests that acidosis, as often seen in patients with worsening CKD and which may enhance CKD progression, limits the effectiveness of statins and enhances their potential toxicity. The investigators thus hypothesize that correction of acidosis along with statin treatment will be a safe and effective therapeutic regimen to slow CKD progression in the adult ADPKD population and improve overall quality of life in these patients. To test this hypothesis, the investigators will conduct a pilot open-label randomized clinical trial in ADPKD patients with estimated GFR >45 min (Stage 1-3a CKD) comparing three treatment groups: control, atorvastatin (20 mg po qd), and atorvastatin plus sodium bicarbonate tablets (upto 1800mg po total daily dose) over one year. At the beginning of the study, the investigators will determine the genotype of the trial participants. During the study period, through study visits along with serial blood draws and urinary measurements, the investigators will evaluate safety and tolerability of these treatment regimens, follow renal function and investigate the role of these treatments on acidosis, inflammatory and metabolic biomarkers in patients enrolled at an outpatient facility. Serial follow-up imaging study will also be done in selected patients. This study will establish the framework for larger clinical trials in ADPKD. Moreover, if the results of this study suggest safety/tolerability or potential benefits of statins and alkali therapy in this ADPKD population, the investigators will seek extramural funding for a larger clinical trial to test this therapeutic strategy in ADPKD.