Clinical trials: Genetic Condition
Congenital Aniridia
Congenital Aniridia Patient Questionnaire
Congenital aniridia is a pan-ocular genetic disease characterized by a partial or complete absence of the iris, hence its name. The prevalence ranges from 1 / 40,000 to 1 / 96,000 births, but it may be underestimated.
- Trial name
- Aniridia-Quizz (NCT05390801)
- Testing
- Survey
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Sickle Cell Anemia, Pulmonary Hypertension
Exercise-induced Pulmonary Hypertension in Patients With Sickle-cell Anemia
Pulmonary hypertension (PH) at rest is a risk factor for death in patients with sickle-cell anemia (SCA). Exercise echocardiography (EE) can detect latent PH.
- Trial name
- NCT00948012
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Federal University of São Paulo
Non-small Cell Lung Cancer
Association Between the Results of Specific Genetic Tests and the Efficacy of Targeted Therapies in Patients
Our study aimed to evaluate the correlation between test reagent specific gene test results and the efficacy of relevant targeted drugs in patients with non-small cell lung cancer, and to support the continued registration of…
- Trial name
- NCT05450081
- Where
- China
- Volunteers
- 140 people
- Sponsor
- Hunan Province Tumor Hospital
Cystic Fibrosis, Healthy Subjects
Evaluation of Nebulization and Positive Expiratory Pressure Combination
The purpose of this study is to compare the efficiency of nebulization and positive expiratory pressure combination
- Trial name
- NCT02535130
- Testing
- Positive expiratory pressure, amikacine nebulization
- Where
- Belgium
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Metastatic Breast Cancer, Metastatic Triple Negative Breast Cancer
S 81694 Plus Paclitaxel in Metastatic Breast Cancer
The purpose of this study is to determine the safety profile, the maximum tolerated dose (MTD) and the associated dose-limiting toxicities (DLTs) of S 81694 in combination with paclitaxel in metastatic breast cancer (mBC)…
- Trial name
- NCT03411161
- Testing
- Combination therapy (S81694 + paclitaxel) phase I, Paclitaxel, Combination therapy (S81694 + paclitaxel) phase II
- Where
- 6 sites in Belgium, France and 2 more
- Volunteers
- 22 people
- Sponsor
- Institut de Recherches Internationales Servier
Hereditary Spastic Paraplegia
Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia
Hereditary spastic paraplegias constitute a heterogeneous group of diseases with the common predominant feature of spasticity of the lower limbs.
- Trial name
- SPASTOX (NCT02604186)
- Testing
- Botulinum Toxin Injections
- Where
- Brazil
- Volunteers
- 55 people
- Sponsor
- University of Campinas, Brazil
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission
Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
This phase II trial studies how well fludarabine phosphate, cyclophosphamide, total body irradiation, and donor stem cell transplant work in treating patients with blood cancer.
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
- Trial name
- NCT03333486
- Testing
- Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Roswell Park Cancer Institute
RPS19 Deficient Diamond-Blackfan Anemia
Assessing the Safety, Tolerability, and Efficacy of APR-2020 in Pediatric and Adolescent Subjects With RPS19 Deficient Diamond-Blackfan Anemia
Brief summary The goal of this clinical trial is to learn if APR-2020 is safe and can help treat Diamond-Blackfan Anemia (DBA) in adolescents and children.
- Trial name
- NCT07476183
- Testing
- APR-2020
- Where
- 2 sites in United States
- Volunteers
- 4 people
- Sponsor
- Apriligen, Inc.
Atopic Dermatitis
Evaluating Results of Regularly Applied Emollient - Spray in Atopic Dermatitis Therapy
Atopic dermatitis (AD) is a chronic, relapsing, inflammatory skin disease that has potential for profound and far-reaching effects on all aspects of children and their families lives, significantly reducing the quality of life.
- Trial name
- NCT02763722
- Testing
- Emollient spray product
- Where
- Poland
- Volunteers
- 35 people
- Sponsor
- Medical University of Warsaw
Tourette's Syndrome
Optimising Anterior Pallidal Deep Brain Stimulation for Tourette's Syndrome
The motor tics associated with Tourette's syndrome may be reduced with deep brain stimulation of the anterior globus pallidus. The best area within this brain region and the best stimulation device settings are currently unknown.
- Trial name
- NCT02112253
- Testing
- Deep brain stimulator ventral electrode up to 2 mA, Deep brain stimulator ventral electrode up to 3 mA, Deep brain stimulator dorsal electrode up to 2 mA
- Where
- Australia
- Sponsor
- The University of Western Australia
Gout, Hyperuricemia
PK and Safety Evaluation Study of SAP-001 in Adult Subjects With Normal and Impaired Renal Function
This is a multicenter, open-label, non-randomized, parallel-group, single-dose, 2-part, adaptive study in which up to approximately 32 adult subjects will be enrolled in one of 4 groups (8 subjects per group) with varying degrees…
- Trial name
- NCT06729853
- Testing
- SAP-001
- Where
- 2 sites in United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Shanton Pharma Pte. Ltd.
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
The purpose of the study is to collect preliminary data on whether the drug adalimumab (also called Humira) can decrease pain and stiffness, improve quality of life, and is safe in people with mucopolysaccharidosis type I, II, or…
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI
- Trial name
- NCT02437253
- Testing
- Adalimumab
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Congenital Myasthenic Syndrome
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7…
- Trial name
- NCT06078553
- Where
- 33 sites in United States, Austria and 10 more
- Volunteers
- 100 people
- Sponsor
- argenx
Testicular Cancer
Genetics of Familial Testicular Cancer
This study is a collaboration between the Clinical Genetics Branch of the National Cancer Institute and the International Testicular Cancer Linkage Consortium (ITCLC).
- Trial name
- NCT00342537
- Where
- United States
- Volunteers
- 1,842 people
- Sponsor
- National Cancer Institute (NCI)
Hemophilia a, Muscle Strength
Effect of Kinetic Chain Exercises on Muscle Strength, Joint Position Sense and Quality of Life in Children with Haemophilia.
The goal of this clinical trial is to learn if there are effect of close kinetic chain exercises on muscle strength, joint position sense and Quality of life in children with haemophilia? Null hypothesis It will be hypothesized…
- Conditions
- Hemophilia a, Muscle Strength, Joint Position Sense, Quality of Life (QOL)
- Trial name
- NCT06649175
- Testing
- Exercise
- Where
- Egypt
- Volunteers
- 40 people
- Sponsor
- Cairo University
Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue, Pyoderma Gangrenosum
Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin Diseases. After collecting informed consent, all patients' clinical phenotype is graded at inclusion with a detailed case report form and a…
- Conditions
- Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue, Pyoderma Gangrenosum, Erosive Pustular Dermatosis of the Scalp, Sweet's Syndrome
- Trial name
- NEUTROGENE (NCT01952275)
- Testing
- Collection of biological samples
- Where
- Switzerland
- Volunteers
- 600 people
- Sponsor
- University of Zurich
Chronic Kidney Disease, Proteinuria
A Smart Phone Application to Improve Adoption of the 2024 Kidney Disease Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) Guidelines
The goal of this study is to establish whether use of a digital intervention can improve adherence and alignment with the Kidney Disease: Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) 2024 Guidelines.
- Conditions
- Chronic Kidney Disease, Proteinuria, Blood Pressure Control, Congenital Anomalies of the Kidneys and Urinary Tract
- Trial name
- NCT07561957
- Testing
- Use of an electronic digital Application
- Where
- 2 sites in Ireland
- Volunteers
- 80 people
- Sponsor
- St. James's Hospital, Ireland
Extracorporeal Circulation; Complications, Renal Failure
Impact of Cardiopulmonary Bypass Flow on Renal Oxygenation, Blood Flow and Tubular Injury
During open cardiac surgery, cardiopulmonary bypass (CPB) is used to temporarily replace the function of the heart and lungs. Renal ischemia resulting in acute kidney injury is common after cardiac surgery.
- Conditions
- Extracorporeal Circulation; Complications, Renal Failure, Circulation Disorder, Renal Plasma Flow, Effective
- Trial name
- ICAROX2 (NCT04084301)
- Testing
- High CPB flow
- Where
- Sweden
- Volunteers
- 100 people
- Sponsor
- Sahlgrenska University Hospital
Renal Insufficiency, Chronic
Interactive E-health Database for the Identification of Potential Interactions Among Drugs Prescribed to CKD Patient
The aim of the current project is the development and implementation of an e-health database of drug interactions (drug-drug, drug-food, drug-alcohol and drug-herbal products interaction) to CKD patients in order to achieve a…
- Trial name
- NCT04310501
- Where
- Greece
- Volunteers
- 150 people
- Sponsor
- University of Ioannina
Genetic Disorders
Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema
The purpose of this multi-center study is to explore the efficacy, safety, tolerability and pharmacokinetics/pharmacodynamics of recombinant human C1 inhibitor in the treatment of acute attacks in patients with hereditary…
- Trial name
- NCT00262288
- Testing
- i.v. recombinant human C1 inhibitor
- Where
- Netherlands
- Volunteers
- 14 people
- Sponsor
- Pharming Technologies B.V.