Clinical trials: Gene Mutation
Premature Birth, Pre-Eclampsia
Select Nutrient and Gene Variant Analysis in a Targeted Diet and Lifestyle Intervention Reduces Preterm Birth
Preterm birth (PTB) rates in the US are among the highest in wealthy nations across the globe, and they are particularly high in our most socio-economically disadvantaged populations.
- Conditions
- Premature Birth, Pre-Eclampsia, Small for Gestational Age Infant
- Trial name
- SNGLI-PTB (NCT05436119)
- Testing
- GrowBaby
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- GrowBaby Life Project
Embolism Air Post-Procedural
CO2 Field Saturating Alternative Techniques Comparison
Prospective Randomized study comparing three strategy of deairing (NO CO2 insufflation, CO2 insufflation with non specific cannula, CO2 insufflation with commercial dedicated diffuser) as regarding Time to Complete Deairing…
- Trial name
- NCT03961425
- Testing
- NO CO2, CO2 Cannula, CO2 Cardia
- Where
- Italy
- Volunteers
- 180 people
- Sponsor
- Cardiochirurgia E.H.
Breast Cancer
Study to Evaluate the Impact of the Use of Alternative and Complementary Therapies on Therapeutic Adherence in Patients Treated With taMoxifen for Early Stage Breast Cancer
This is a pilot, prospective, interventional, monocentric study designed to evaluate, in a real-life situation, adherence to tamoxifen treatment as a function of the taking of alternative and complementary therapies in patients…
- Trial name
- EUTACAM (NCT04740697)
- Testing
- Treatment requiring adjuvant Hormonal Therapy (HT) with tamoxifen.
- Where
- France
- Volunteers
- 200 people
- Sponsor
- Institut Claudius Regaud
Alternative Smoking Products
A Brief Intervention Programme on ASP
The brief intervention comprises a 4-page worksheet used in the classroom (main intervention) and subsequent weekly e-messages through WhatsApp (booster intervention).
- Trial name
- NCT04302480
- Testing
- Worksheets for ASP, Worksheets for SSB, E-messages for ASP
- Where
- Hong Kong
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Advanced or Metastatic Solid Tumors Irrespective of Gene Alterations, Advanced or Metastatic Solid Tumors With Germline PTEN Inactivating Mutations
TAS-117 in Patients With Advanced Solid Tumors Harboring Germline PTEN Mutations
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and antitumor activity of TAS-117 in patients with advanced or metastatic solid tumors (excluding primary brain tumors)…
- Trial name
- NCT04770246
- Testing
- TAS-117
- Where
- 8 sites in United States, Austria and 2 more
- Volunteers
- 17 people
- Sponsor
- Taiho Oncology, Inc.
Meaning, Value and Purpose of AAC
Meaning, Value and Purpose of Augmentative and Alternative Communication (AAC)
The perception of disability has changed throughout history, and today, people who previously did not have a way to communicate are able to express themselves through Augmentative and Alternative Communication (AAC).
- Trial name
- AAC (NCT02931669)
- Testing
- Qualitative Descriptive Study
- Where
- Ireland
- Volunteers
- 189 people, healthy volunteers welcome
- Sponsor
- University of Dublin, Trinity College
X-Linked Retinitis Pigmentosa
A Study Comparing Two Doses of AGTC-501 in Male Participants With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (DAWN)
This Phase 2 study is a non-randomized, open-label, study of the safety of AGTC-501 in participants with XLRP who have previously been treated with a full-length AAV vector-based gene therapy targeting RPGR protein.
- Trial name
- NCT06275620
- Testing
- AGTC-501 (high dose and standard corticosteroid regimen), AGTC-501 (low dose and standard corticosteroid regimen), AGTC-501 (high dose and modified corticosteroid regimen)
- Where
- 7 sites in United States
- Volunteers
- 24 people
- Sponsor
- Beacon Therapeutics
Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia
Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
This phase II trial tests whether treosulfan, fludarabine, and rabbit antithymocyte globulin (rATG) work when given before a blood or bone marrow transplant (conditioning regimen) to cause fewer complications for patients with…
- Conditions
- Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Hereditary Sideroblastic Anemia
- Trial name
- NCT04965597
- Testing
- Treosulfan, Fludarabine Phosphate, Tacrolimus
- Where
- 24 sites in United States
- Volunteers
- 40 people
- Sponsor
- Fred Hutchinson Cancer Center
Primary Graft Failure
REVEAL Biomarkers of Engraftment After Alternative Donor HSCT
The purpose of this study is to find new tests that could help determine if the newly infused bone marrow cells are growing well after bone marrow transplantation or if new bone marrow cells are needed.
- Trial name
- REVEAL (NCT03541889)
- Testing
- FLT imaging and TK1 blood measurements
- Where
- 4 sites in United States
- Volunteers
- 50 people
- Sponsor
- University of Oklahoma
Chromosome Disorders
Noninvasive Prenatal Diagnosis: Using Fetal Cells From Maternal Blood
This purpose of this study is to develop noninvasive methods of prenatal diagnosis. Fetal cells can be found in maternal blood. This study is designed to isolate these fetal cells from a sample of the pregnant woman's blood and…
- Trial name
- NCT00064597
- Where
- 5 sites in United States
- Volunteers
- 3,500 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Brain Tumors
International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma
The study PNET 5 MB has been designed for children with medulloblastoma of standard risk (according to the risk-group definitions which have been used so far; e.g. in PNET 4).
- Trial name
- NCT02066220
- Testing
- Radiotherapy without Carboplatin, Reduced-intensity maintenance chemotherapy, Radiotherapy with Carboplatin
- Where
- 77 sites in Austria, Belgium and 14 more
- Volunteers
- 360 people
- Sponsor
- Universitätsklinikum Hamburg-Eppendorf
Oral Pyogenic Granuloma
Corticosteroid Intralesional Injection as an Alternative Treatment in Oral Pyogenic Granuloma in the Esthetic Zone.
Gingival Pyogenic granuloma in the esthetic zone represents an esthetic problem. While surgical treatment may not give the premium esthetic demands, corticosteroid may acheive this balance.
- Trial name
- NCT05534334
- Testing
- Solu-Cortef
- Where
- 2 sites in Egypt
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Beni-Suef University
Advanced Lung Non-Squamous Non-Small Cell Carcinoma, Recurrent Lung Non-Squamous Non-Small Cell Carcinoma
Combination Treatment (Talazoparib Plus Avelumab) for Stage IV or Recurrent Non-Squamous Non-Small Cell Lung Cancer With STK11 Gene Mutation (A LUNG-MAP Treatment Trial)
This phase II LUNG-MAP treatment trial studies how well combination treatment (talazoparib plus avelumab) works in treating patients with non-squamous non-small cell lung cancer that has an STK11 gene mutation and has come back…
- Conditions
- Advanced Lung Non-Squamous Non-Small Cell Carcinoma, Recurrent Lung Non-Squamous Non-Small Cell Carcinoma, Stage IV Lung Cancer AJCC v8, Stage IVA Lung Cancer AJCC v8
- Trial name
- NCT04173507
- Testing
- Avelumab, Talazoparib, Talazoparib Tosylate
- Where
- 325 sites in United States
- Volunteers
- 47 people
- Sponsor
- SWOG Cancer Research Network
Tumor, Tumor, Solid
Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
A Phase 2 multi-center open-label basket trial of nab-sirolimus for adult and adolescent patients with malignant solid tumors harboring pathogenic inactivating alterations in TSC1 or TSC2 genes
- Conditions
- Tumor, Tumor, Solid, Metastasis, Metastatic Cancer
- Trial name
- NCT05103358
- Testing
- nab-sirolimus
- Where
- 166 sites in United States, Puerto Rico and 1 more
- Volunteers
- 128 people
- Sponsor
- Aadi Bioscience, Inc.
Hemophilia B
Mutation p.Ile112Thr : Discrepancy Between Factor IX Level and Bleeding Phenotype
It appears that the mutation p.Ile112Thr in the factor IX gene confers a discrepancy between mild factor IX level and severe bleeding phenotype. Databases and litterature analysis are poor on this matter.
- Trial name
- Hémophilie B (NCT03946384)
- Testing
- data collection
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Craniosynostoses, Synostosis
Craniofacial Imaging With 3D MRI: an Alternative to Ionising Radiation
Craniosynostosis is a condition where infants are born with or subsequently develop an abnormally shaped skull. The skull develops from plates of bone separated from each other by growth lines (sutures).
- Conditions
- Craniosynostoses, Synostosis, Skull Deformity
- Trial name
- NCT04695938
- Testing
- MRI
- Where
- United Kingdom
- Volunteers
- 80 people
- Sponsor
- University of Cambridge
Attention Deficit Hyperactivity Disorder
PART B: Efficacy and Safety of AEVI-001 in Children and Adolescents With ADHD and Without mGluR Mutations
This is PART B of a 2-part, 6-week, double-blind, dose-optimization, parallel-group study in children and adolescents (ages 6-17 years) with ADHD with and without CNVs in specific genes implicated in glutamatergic signaling and…
- Trial name
- NCT03609619
- Testing
- AEVI-001
- Where
- United States
- Volunteers
- 109 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
Medium-chain Acyl-CoA Dehydrogenase Deficiency
Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
This is a medical research study to test a medication in patients 10 years of age and older with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by the common ACADM c.985 A>G (K304E) mutation.
- Trial name
- NCT06069375
- Testing
- Sodium phenylbutyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Jerry Vockley, MD, PhD
Dysmenorrhea (Disorder), Alternative Treatment
The Effect of SuJok Application on Dysmenorrhea and Quality of Life in Young People With Primary Dysmenorrhea:
Menarche, which is one of the most prominent features of maturation in adolescents and the transition from childhood to adulthood, causes many problems. The most prominent of these complaints is dysmenorrhea.
- Trial name
- NCT06983600
- Testing
- alternative therapy:sujok therapy
- Where
- Turkey (Türkiye)
- Volunteers
- 100 people
- Sponsor
- Muş Alparslan University
Hereditary Pancreatitis, PRSS1 Gene Mutation
French National Cohort of Patients With PRSS1 Mutations
The diagnosis of hereditary pancreatitis (PH) is based on a genetic criterion - detection of a mutation in the PRSS1 gene or on a genealogical criterion - the presence of chronic pancreatitis in at least 2 first-degree relatives…
- Trial name
- PARADISIO 1 (NCT07413029)
- Testing
- collecting their health data from their medical file and completing questionnaires.
- Where
- France
- Volunteers
- 800 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris