Clinical trials: Gene Mutation
Somatic Mutation
SMS - Study of Somatic Mutations Using Genome Sequencing
Disease and tissue aging are thought to be influenced by genetic changes, or mutations, acquired throughout life. These mutations provide clues regarding the genetic damage that occurred through the lifetime of the patient, and…
- Trial name
- SMS (NCT06851052)
- Testing
- sample collection, Seeking consent, Sample Collection: Surgical
- Where
- United Kingdom
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
Metastatic Colorectal Cancer, CRC
Study of Onvansertib in Combination With FOLFIRI and Bevacizumab or FOLFOX and Bevacizumab Versus FOLFIRI and Bevacizumab or FOLFOX and Bevacizumab for First-Line Treatment of Metastatic Colorectal Cancer in Adult Participants With a KRAS or NRAS Mutation
The purpose of this study is to assess 2 different doses of onvansertib to select the lowest dose that is maximally effective, and to assess the safety, efficacy, pharmacokinetics, and pharmacodynamics of onvansertib in…
- Conditions
- Metastatic Colorectal Cancer, CRC, KRAS/NRAS Mutation
- Trial name
- NCT06106308
- Testing
- Onvansertib, FOLFIRI, Bevacizumab
- Where
- 41 sites in United States
- Volunteers
- 110 people
- Sponsor
- Cardiff Oncology
Cystic Fibrosis
Rare CFTR Mutation Cell Collection Protocol (RARE)
Over 1,900 mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein are implicated in causing Cystic Fibrosis (CF).
- Trial name
- RARE (NCT03161808)
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- George Solomon
Non Small Cell Lung Cancer
Detecting EGFR T790M Mutations From Circulating Tumor Cells
The purpose of this research study is to determine if the EGFR mutation can be detected in CTCs. CTCs are cancer cells that are shed from solid tumors and float freely in the bloodstream.
- Trial name
- NCT01734915
- Testing
- Circulating tumor cell chip
- Where
- 4 sites in United States
- Volunteers
- 40 people
- Sponsor
- Massachusetts General Hospital
Duchenne Muscular Dystrophy With Mutations Amenable to PBGENE-DMD
PBGENE-DMD Phase 1/2a Safety and Preliminary Efficacy Study in Duchenne Muscular Dystrophy (FUNCTION-DMD)
The purpose of this Phase 1/2a trial is to evaluate the safety, tolerability, and preliminary efficacy of PBGENE-DMD in patients with DMD harboring mutations amenable to excision of exons 45-55.
- Trial name
- NCT07429240
- Testing
- PBGENE-DMD (IV)
- Where
- 2 sites in United States
- Volunteers
- 18 people
- Sponsor
- Precision BioSciences, Inc.
Waldenstrom's Disease
Detection of Recurrent Mutations in Waldenström's Disease
Waldenström's disease (WM) is a rare, low-grade lymphoid hematopathy, accounting for 1 to 2% of malignant hematopathies and mainly affecting the elderly.
- Trial name
- DigiWAL (NCT03952052)
- Testing
- Determination of mutation
- Where
- France
- Volunteers
- 45 people
- Sponsor
- Centre Henri Becquerel
Diffuse Large B-Cell Lymphoma
Study of AEB071 (a Protein Kinase C Inhibitor) in Patients With CD79-mutant Diffuse Large B-Cell Lymphoma
This study has two phases, a dose escalation phase and a dose expansion phase. For dose escalation, the primary objective is to estimate the maximum tolerated dose of AEB071 in patients with diffuse large b-cell lymphoma.
- Trial name
- NCT01402440
- Testing
- AEB071
- Where
- 24 sites in United States, France and 8 more
- Volunteers
- 15 people
- Sponsor
- Novartis Pharmaceuticals
Neuroendocrine Tumors, MEN1 Mutation
Study of the Value of hPG80 (Circulating Progastrin) for the Diagnosis of Neuroendocrine Tumours in Patients With an MEN1 Mutation
Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease with a high degree of penetrance (>80% of patients). It is caused by the presence of the MEN1 mutation located on chromosome 11q13.
- Trial name
- PRO-NEM1 (NCT06430021)
- Testing
- blood sample
- Where
- France
- Volunteers
- 297 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Sleep Disorders, Circadian Rhythm
Effects of Vitamin B12 on the Body's Internal Clock
Circadian rhythms are 24-hour cycles that influence natural functions in the body such as heart rate, blood pressure, and body temperature. Circadian rhythms provide the body with an internal clock and affect sleep patterns.
- Trial name
- NCT00120484
- Testing
- Vitamin B12
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Polycythemia Vera, Essential Thrombocythemia
Secondary Cancers in Myeloproliferative Neoplasms (MPN-K Study)
The incidence of secondary cancer (SC) in patients with myeloproliferative neoplasms (MPN) is high and comparable to that of thrombosis.
- Conditions
- Polycythemia Vera, Essential Thrombocythemia, Myelofibrosis
- Trial name
- MPN-K (NCT03745378)
- Testing
- JAK2V617F mutation
- Where
- 30 sites in Czechia, Germany and 4 more
- Volunteers
- 1,881 people
- Sponsor
- FROM- Fondazione per la Ricerca Ospedale di Bergamo- ETS
Epileptic Syndromes
Electro-clinical Features and Functional Connectivity Analysis in SYN1 Gene Mutation-related Epilepsy
SYN1 gene mutation is an X-linked gene mutation that causes numerous pathological manifestations such as seizures and neurodevelopmental disorders.
- Trial name
- NCT06222840
- Testing
- Electro-clinical analysis of epileptic seizures, Electro-encephalographic cases, Clinical datas analysis
- Where
- France
- Volunteers
- 75 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Carcinoma, Renal Cell
Alternative Schedule Sunitinib in Metastatic Renal Cell Carcinoma: Cardiopulmonary Exercise Testing
The purpose of this study is to determine the effect of a sunitinib administration schedule 2/1 (2 weeks of treatment followed by 1 week without) compared to a schedule 4/2 (4 weeks of treatment followed by 2 weeks without) on…
- Trial name
- ASSET (NCT03109015)
- Testing
- Sunitinib
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Duke University
Acute Myeloid Leukemia With FLT3/ITD Mutation
Vyxeos Plus Gilteritinib in Relapsed or Refractory, FLT3-Mutated AML
This study combines vyxeos and gilteritinib in patients with relapsed or refractory FLT3-mutated acute myeloid leukemia. Vyxeos and gilteritinib will be given as induction therapy.
- Trial name
- NCT05024552
- Testing
- Gilteritinib, Vyxeos
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
TP53 Gene Mutation, Multi-Gene Transcriptional Profiling
Germline Genetic Testing of the TP53 Gene
This is a retrospective, observational, single-center study designed as a cohort analysis. The study population will include consecutive patients referred for genetic counseling and TP53 germline genetic testing between 2004 and…
- Conditions
- TP53 Gene Mutation, Multi-Gene Transcriptional Profiling, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT07419893
- Where
- Italy
- Volunteers
- 1,940 people
- Sponsor
- European Institute of Oncology
Limb Length Discrepancy
Ultrasound Use to Measure Magnetically Controlled Growing Rods
The goal of this clinical trial is to learn if an ultrasound can measure the length of an internal tibia and femur lengthening rod.
- Trial name
- NCT07212049
- Testing
- ultrasound measurement, X-ray imaging of tibia and/or femur
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Lung Cancer, TKI Resistance
A Single Center, Single Arm Clinical Study on the Treatment of Advanced Non-small Cell Lung Cancer With Positive EGFR Sensitive Mutations and Failed EGFR TKIs With the Combination of Enrotinib and Paclitaxel Monoclonal Antibody
Lung cancer is the second most common malignancy and mortality rate in the world. In the United States and Europe, approximately 10% to 15% of NSCLC patients have epidermal growth factor receptor (EGFR)-sensitive mutations, with…
- Conditions
- Lung Cancer, TKI Resistance, EGFR Sensitive Mutation, Anlotinib
- Trial name
- NCT06048315
- Testing
- Anlotinib, Penpulimab
- Volunteers
- 52 people
- Sponsor
- Degan Lu
Leukemia
Comparative Evaluation of Results of Allogeneic Hematopoietic Stem Cells Versus Ponatinib in CML Patients Carrying a Mutation T315I
Effective treatment options for chronic myeloid leukemia (CML) or Philadelphia-positive (Ph+) acute lymphoblastic leukemia (ALL) patients with the T315I mutation are few.
- Trial name
- NCT02981784
- Testing
- Ponatinib (Iclusig®), allogeneic stem cell transplantation
- Where
- France
- Volunteers
- 184 people
- Sponsor
- Hospices Civils de Lyon
Non Hodgkin Lymphoma, Diffuse Large B Cell Lymphoma
Safety, PK/PD, and Clinical Activity of KT-413 in Adult Patients with Relapsed or Refractory B-cell NHL
This Phase 1a/1b study will evaluate the safety, tolerability and the pharmacokinetics/ pharmacodynamics (PK/ PD) of KT-413 in patients with R/R NHL.
- Conditions
- Non Hodgkin Lymphoma, Diffuse Large B Cell Lymphoma, DLBCL, MYD88 Gene Mutation
- Trial name
- NCT05233033
- Testing
- KT-413
- Where
- 8 sites in United States, United Kingdom
- Volunteers
- 7 people
- Sponsor
- Kymera Therapeutics, Inc.
NSCLC Non Small Cells Lung Cancer
Retrospective Study in Non Small Cell Lung Cancer (NSCLC) With Epidermal Growth Factor Receptor (EGFR)
The purpose of our retrospective study is to describe which circumstances EGFR TKI is continued despite progression according to the usual Response Evaluation CrIteria in Solid Tumours (RECIST) in patients with EGFR activating…
- Trial name
- EGFR-RETRO (NCT02293733)
- Where
- 24 sites in France
- Volunteers
- 144 people
- Sponsor
- Groupe Francais De Pneumo-Cancerologie
Premature, Respiratory Distress Syndrome in Premature Infant
Novel Low Cost Bubble CPAP as an Alternative Respiratory Support in Low Resource Setting
This is a single-blind randomized controlled trial done in a Level III neonatal intensive care unit. Preterm newborns with RDS were randomized to receive oxygen therapy through bubble CPAP vs ventilator-derived CPAP.
- Trial name
- NCT06082674
- Testing
- Vayu bCPAP, Mechanical Ventilator Driven CPAP
- Where
- Philippines
- Volunteers
- 70 people
- Sponsor
- Ilocos Training and Regional Medical Center
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