Clinical trials: Hereditary Disease
Prader-Willi Syndrome, Sarcopenia
Ultrasound to Assess Sarcopenia in Prader Willi Syndrome
The aim of the study is to examine the clinical applicability of ultrasound as a diagnostic tool for sarcopenia in individuals with PWS by investigating the association between ultrasound-derived measurements, DXA-derived…
- Conditions
- Prader-Willi Syndrome, Sarcopenia, Metabolic Syndrome
- Trial name
- PWS (NCT06448871)
- Testing
- Ultrasound assessment of the right lower extremity muscles, Dual-energy X-ray absorptiometry (DXA) scan
- Where
- Taiwan
- Volunteers
- 49 people
- Sponsor
- Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation
Nose; Anomaly
Objective Assessment for Cleft Lip Nasal Deformity Correction
Rhinoplasty remains one of the most challenging procedures in plastic surgery, and patients with cleft lip nasal deformity pose an even greater challenge, in which biggest issue is to achieve caudal nose harmony and creation of…
- Trial name
- NCT03683199
- Testing
- Rhinoplasty
- Where
- Egypt
- Volunteers
- 1 people
- Sponsor
- Assiut University
Beta-thalassemia, Myelodysplastic Syndromes
Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias
The purpose of this study is to determine the effects of the oral iron chelator Deferasirox on liver iron content after one year of treatment in patients with iron overload from repeated blood transfusions.
- Conditions
- Beta-thalassemia, Myelodysplastic Syndromes, Fanconi Syndrome, Anemia, Diamond-Blackfan
- Trial name
- NCT00061763
- Testing
- Deferasirox
- Where
- 6 sites in United States
- Volunteers
- 175 people
- Sponsor
- Novartis Pharmaceuticals
HER2-positive Breast Cancer
PIK3CA in HER2+ BC and pCR Trial
The goal of the study is to evaluate the impact of somatic PI3KCA mutations on pCR in HER2-positive early breast cancer in real life. The main question it aims to answer iS.
- Trial name
- NCT05750693
- Testing
- PIK3CA analysis
- Where
- Italy
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Atopic Dermatitis
Investigating Participation Patterns of Patients in Atopic Dermatitis Clinical Trials
Clinical trials, specifically focused on atopic dermatitis, are crucial in assessing the safety and efficacy of new treatments. These trials serve as fundamental instruments in determining whether emerging medications outperform…
- Trial name
- NCT06174493
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Power Life Sciences Inc.
Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH)
Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension
Congenital portosystemic shunt (CPSS) are rare vascular malformations causing blood from the intestines to bypass the liver and directly flow into body's general circulation.
- Conditions
- Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH), Congenital Portosystemic Shunt
- Trial name
- Gen-PoPH-CPSS (NCT07314814)
- Testing
- targeted gene panels analysis, whole genome analysis
- Where
- Switzerland
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Prof. Valérie Mc Lin
Cystic Fibrosis
Safety, Tolerability, and Pharmacokinetics of ARCT-032 in Healthy Adult Subjects and Adults With Cystic Fibrosis.
Determine the safety, tolerability and pharmacokinetics of single doses of ARCT-032 in healthy adult subjects (Phase 1) and of two doses in Adults with Cystic Fibrosis (Phase 1b).
- Trial name
- NCT05712538
- Testing
- ARCT-032
- Where
- New Zealand
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- Arcturus Therapeutics, Inc.
Constitutional Mismatch Repair Deficiency Syndrome, Hematopoietic and Lymphoid Cell Neoplasm
Testing the Combination of Two Immunotherapy Drugs (Nivolumab and Ipilimumab) in Children, Adolescent, and Young Adult Patients With Relapsed/Refractory Cancers That Have an Increased Number of Genetic Changes, The 3CI Study
This phase Ib trial investigates the side effects of the combination of nivolumab and ipilimumab, and to see how well they work in treating patients with cancers that have come back (relapsed) or does not respond to treatment…
- Conditions
- Constitutional Mismatch Repair Deficiency Syndrome, Hematopoietic and Lymphoid Cell Neoplasm, Lynch Syndrome, Recurrent Lymphoma
- Trial name
- NCT04500548
- Testing
- Biospecimen Collection, Ipilimumab, Nivolumab
- Where
- 9 sites in United States, Canada
- Sponsor
- National Cancer Institute (NCI)
Musculoskeletal Abnormalities, Obesity
GLP-1R Actions on Muscle and the Skeleton
The GRAMS study objectives are to assess the musculoskeletal changes that occur after weight loss using GLP-1 based therapy. A lifestyle intervention with diet and exercise is included to assess any mitigating effects are…
- Conditions
- Musculoskeletal Abnormalities, Obesity, Sarcopenic Obesity, Osteoporosis
- Trial name
- GRAMS (NCT07154719)
- Testing
- Tirzepatide, Lifestyle toolkit
- Where
- 2 sites in United States
- Volunteers
- 50 people
- Sponsor
- Pennington Biomedical Research Center
Brain and Central Nervous System Tumors, Chronic Myeloproliferative Disorders
Methadone, Morphine, or Oxycodone in Treating Pain in Patients With Cancer
RATIONALE: Methadone, morphine, or oxycodone may help relieve pain caused by cancer. It is not yet known whether methadone is more effective than morphine or oxycodone in treating pain in patients with cancer.
- Conditions
- Brain and Central Nervous System Tumors, Chronic Myeloproliferative Disorders, Leukemia, Lymphoma
- Trial name
- NCT00726830
- Testing
- methadone hydrochloride, morphine sulfate, oxycodone hydrochloride
- Where
- 2 sites in United States
- Volunteers
- 1 people
- Sponsor
- M.D. Anderson Cancer Center
Hemophilia, Arthropathy of Knee
Evaluation of Static Postural Balance in Children With Hemophilia and Its Relationship With Joint Health
Hemophilia is a rare hematological disorder characterized by a partial or complete deficiency of clotting factor VIII or IX.Bleeding disorders mainly affect the musculoskeletal system.
- Conditions
- Hemophilia, Arthropathy of Knee, Arthropathy of Ankle or Foot
- Trial name
- NCT04406519
- Where
- Turkey (Türkiye)
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Necmettin Erbakan University
Hypospadias
Liposomal Bupivacaine vs Standard Penile Block for Hypospadias Repair
The investigator proposes a prospective randomized study of males with hypospadias to either bupivacaine penile block or liposomal bupivacaine block for hypospadias repair, Figure 3.
- Trial name
- NCT04479371
- Testing
- Liposomal bupivacaine, Bupivacaine
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Coarctation of the Aorta, Tetralogy of Fallot
Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic Resonance
The purpose of this study is to determine whether patients with repaired congenital heart disease show differences in size or function of their heart atria compared to normal controls and depending on the nature of their heart…
- Conditions
- Coarctation of the Aorta, Tetralogy of Fallot, Transposition of the Great Arteries
- Trial name
- NCT02161471
- Where
- Switzerland
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- University Children's Hospital, Zurich
Retinitis Pigmentosa, Stargardt Macular Dystrophy
Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
The Vision Research and Assessment Institute (VRAI) was established with the purpose of serving as a testing facility for efficacy endpoints for patients with Low Vision.
- Conditions
- Retinitis Pigmentosa, Stargardt Macular Dystrophy, Stargardt Disease, Geographic Atrophy From Age-related Macular Degeneration
- Trial name
- DEFINE-IRD (NCT07502664)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Ray Therapeutics, Inc.
Hemophilia
A Feasibility Study to Collect Data in Patients With Haemophilia
The purpose of this study is to collect reference data in patients with haemophilia. The study will also collect and store blood samples for potential future exploratory research in the disease area.
- Trial name
- NCT00798499
- Testing
- Laboratory variables
- Where
- 2 sites in Sweden
- Volunteers
- 50 people
- Sponsor
- AstraZeneca
Solid Cancers, NSCLC (Advanced Non-small Cell Lung Cancer)
An Phase Ib/II Clinical Trial of TCC1727 Combination Therapy in Advanced Solid Tumors
This is a Phase Ib/II clinical study. The Phase Ib dose-escalation study aims to evaluate and determine the recommended Phase II dose (RP2D) of TCC1727 in combination with benmelstobart /olaparib /topotecanfor patients with…
- Conditions
- Solid Cancers, NSCLC (Advanced Non-small Cell Lung Cancer), Gastric (Stomach) Cancer, Endometrial Cancer
- Trial name
- NCT07371663
- Testing
- TCC1727 tablet 90mg, TCC1727 tablet 120mg, TCC1727 tablet 160mg
- Where
- 3 sites in China
- Volunteers
- 266 people
- Sponsor
- Beijing Tide Pharmaceutical Co., Ltd
Hypospadias
Identification of Hypospadias Parameters Using Digital Photography and Artificial Intelligence
The goal of this observational study is to develop and validate a digital pattern recognition system based on artificial neural network to determine various parameters in hypospadias.
- Trial name
- ASHOKA (NCT05569863)
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Universitas Indonesia
Epidermolysis Bullosa
Grafting of Epidermolysis Bullosa Wounds Using Cultured Revertant Autologous Keratinocytes
The term epidermolysis bullosa (EB) is used to describe a group of genetic skin diseases associated with skin weakness, blisters, and chronic wounds.
- Trial name
- NCT01454687
- Testing
- Grafting of Autologous Cultured Revertant Keratinocytes
- Sponsor
- Stanford University
Rett Syndrome
The Rett Syndrome Global Registry
The Rett Global Registry is a fully remote, global, caregiver-reported registry to collect information about caring for a loved one with Rett syndrome.
- Trial name
- NCT04900493
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- Rett Syndrome Research Trust
Congenital Diaphragmatic Hernia
Smart Removal for Congenital Diaphragmatic Hernia
The purpose of this study is to demonstrate the ability to prenatally deflate and to evaluate the safety of the Smart-TO device for fetoscopic endoluminal tracheal occlusion (FETO) in fetuses with congenital diaphragmatic hernia…
- Trial name
- SmartRemoval (NCT05100693)
- Testing
- Fetoscopic Endoluminal Tracheal Occlusion with the Smart-TO Balloon
- Where
- Belgium
- Volunteers
- 25 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven