Clinical trials: Genetic Conditions
Drepanocytosis, Chronic Neurological Deficiency
Transfusion Exchanges and Cognition in Sickle Cell Disease
DREPA-COG is an observational study evaluating the effect of exchange transfusions on cognitive function in adults with severe sickle cell disease (SS or Sβ0).
- Trial name
- DREPA-COG (NCT07168447)
- Where
- 6 sites in France
- Volunteers
- 85 people
- Sponsor
- Centre Hospitalier St Anne
Gout, Hyperuricemia
Post-Authorisation Safety Study of Lesinurad
Non-interventional population-based prospective cohort study in multiple databases comparing patients with gout who initiate lesinurad in combination with an existing xanthine oxidase inhibitor (XOI) (lesinurad+XOI cohort) to a…
- Trial name
- SATURATES (NCT04072471)
- Testing
- Zurampic®, Control group: xanthine oxidase inhibitor monotherapy
- Sponsor
- AstraZeneca
Tourette Syndrome, Habit Reversal Training
Extinction Learning in Adults With Tourette Syndrome
Aversive sensory phenomena such as premonitory urges play a central role in the behavioral treatment model of tics. Extinction learning and extinction recall are learning processes implicated within this model, but are still…
- Conditions
- Tourette Syndrome, Habit Reversal Training, Tic Disorders, Tics
- Trial name
- NCT04498364
- Testing
- Habit Reversal Training
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Glioblastoma
Key Longitudinal Associations With Risk and Glioblastoma Outcomes
The goal of this observational study is to find out what factors affect the health and risks in adults with glioblastoma (GBM), a grade 4 brain cancer.
- Trial name
- Key LARGO (NCT06625684)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Post-COVID-19 Condition, Ulcerative Colitis
Emerging Indications for Hyperbaric Oxygen Treatment
This study will evaluate the effectiveness of hyperbaric oxygen therapy (HBOT) on treating emerging indications (i.e., conditions that have shown to potentially benefit from HBOT) using the Multicenter Registry for Hyperbaric…
- Conditions
- Post-COVID-19 Condition, Ulcerative Colitis, Crohn Disease, Calciphylaxis
- Trial name
- NCT07240649
- Testing
- Hyperbaric oxygen treatment (HBOT), 100% Oxygen
- Volunteers
- 100 people
- Sponsor
- Jay C. Buckey Jr.
Barrett's Esophagus, Esophageal Neoplasm
Genetic Determinants of Barrett's Esophagus and Esophageal Adenocarcinoma
The overall objectives of this BETRNet Research Center (RC) are: 1. to conduct a rigorous, integrated spectrum of transdisciplinary human research in Barrett's esophagus (BE) and esophageal adenocarcinoma (ECA) 2.
- Trial name
- FBE (NCT00288119)
- Testing
- Balloon Capsule Device, Endoscopy
- Where
- 10 sites in United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Case Western Reserve University
Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes
A Study to Learn How Safe the Study Treatment Elinzanetant is and How it Moves Into, Through and Out of the Body When Given as Single Increasing Doses That Are Higher Than Normally Used Compared to Placebo and Moxifloxacin in Healthy Participants
Researchers are looking for a better way to treat vasomotor symptoms, a condition of having hot flashes. The condition is caused by hormonal changes and occurs primarily in women, but can also affect men.
- Conditions
- Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes, Healthy Volunteers
- Trial name
- NCT05481528
- Testing
- Moxifloxacin, Elinzanetant (BAY3427080)
- Where
- Germany
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Bayer
Alpha1 Antitrypsin Deficiency, Alpha1-Proteinase Inhibitor Deficiency
Phase 4, Double-blind Study Evaluating the Response on Computed Tomography (CT) Lung Density Decline Rates of Respreeza / Zemaira Weekly for 3 Years in Adults With alpha1 Antitrypsin Deficiency (AATD)
This is a multicenter, parallel-group, double-blind, randomized phase 4 study designed to identify the optimal dose of CE1226 (2 active doses) to slow disease progression as assessed by reduced rates of annual lung density…
- Conditions
- Alpha1 Antitrypsin Deficiency, Alpha1-Proteinase Inhibitor Deficiency, Emphysema
- Trial name
- NCT07326592
- Testing
- CE1226
- Where
- 2 sites in Denmark
- Volunteers
- 270 people
- Sponsor
- CSL Behring
Sickle Cell Crisis
Evaluation of the Efficacy of Intra-nasal Sufentanil for Analgesia of Vaso-occlusive Crisis in Sickle-cell Adults.
The analgesic treatment for vaso-occlusive crisis (VOC) in sickle-cell patients is an emergency. The reference treatment is morphine, which requires a venous way sometimes difficult to obtain in these patients.
- Trial name
- DREPSUFINDOL (NCT04076748)
- Testing
- Sufentanil, EMONO
- Where
- 8 sites in France, French Guiana and 1 more
- Volunteers
- 115 people
- Sponsor
- University Hospital, Bordeaux
Neutropenia, Sickle Cell Anemia
Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders
OBJECTIVES: I. Determine the efficacy of bone marrow transplantation using matched related donors in patients with nonmalignant hematologic disorders. II.
- Conditions
- Neutropenia, Sickle Cell Anemia, Thalassemia Major, Red-Cell Aplasia, Pure
- Trial name
- NCT00005893
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Sponsor
- Fairview University Medical Center
Arrhythmogenic Cardiomyopathy, PKP2-ACM
A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients With PKP2-ACM
An observational study to assess real-world patient characteristics and clinical course of disease in participants with PKP2-ACM.
- Conditions
- Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
- Trial name
- SNAPSHOT- PKP2 (NCT06976606)
- Where
- 6 sites in United States
- Volunteers
- 40 people
- Sponsor
- Lexeo Therapeutics
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
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
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)
Prostatitis, Cystitis, Interstitial
Linkage Analysis in Interstitial Cystitis
Urologic pelvic pain syndrome (UCPPS), variably termed painful bladder syndrome/interstitial cystitis (PBS/IC) in females and chronic prostatitis/chronic pelvic pain syndrome in men (CP/CPPS), is a chronic, debilitating clinical…
- Conditions
- Prostatitis, Cystitis, Interstitial, Urinary Bladder, Overactive, Chronic Pelvic Pain Syndrome
- Trial name
- IC (NCT00675298)
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Alpha-1 Antitrypsin Deficiency (AATD)
A Study of TSRA-196 in Adults With PiZZ Alpha-1 Antitrypsin Deficiency (AATD)
This is a Phase 1/2, open-label, multi-center, dose escalation (Part 1), dose expansion (Part 2), and single repeat dose (Part 3) study to evaluate the safety, tolerability, efficacy, and PK/PD parameters of TSRA-196 in adults…
- Trial name
- NCT07227207
- Testing
- TSRA-196
- Where
- 8 sites in United States, Australia and 1 more
- Volunteers
- 72 people
- Sponsor
- Tessera Therapeutics, Inc.
Pancreatic Exocrine Insufficiency
The Development of a Metabolomic Test to Diagnose and Quantify Pancreatic Exocrine Insufficiency (The DETECTION Study)
DETECTION. The development of a metabolomic test to diagnose and quantify pancreatic exocrine insufficiency.
- Trial name
- DETECTION (NCT05980221)
- Testing
- Metabolomics, 13C MTGT
- Where
- United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University Hospital Birmingham NHS Foundation Trust
Shwachman Syndrome, Fanconi's Anemia
Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
OBJECTIVES: I. Assess the efficacy of recombinant human granulocyte colony-stimulating factor (G-CSF) in raising the absolute neutrophil count, platelet count, and hemoglobin level in patients with inherited bone marrow failure…
- Conditions
- Shwachman Syndrome, Fanconi's Anemia, Dyskeratosis Congenita, Thrombocytopenia
- Trial name
- NCT00004787
- Testing
- filgrastim
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Wound; Rupture, Surgery, Cesarean Section, Postpartum Hemorrhage
HEMOLEVEN® Expanded Access Program Prevention of Surgical/Postpartum Hemorrhage Severe Inherited Factor XI Deficiency
The objective of the Expanded Access Program is to provide HEMOLEVEN, a replacement coagulation factor XI, to patients with severe inherited factor XI deficiency where, in the opinion of the treating physician, the benefits of…
- Conditions
- Wound; Rupture, Surgery, Cesarean Section, Postpartum Hemorrhage, Surgery
- Trial name
- EAP (NCT01701947)
- Testing
- Hemoleven
- Where
- United States
- Sponsor
- Laboratoire français de Fractionnement et de Biotechnologies
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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