Clinical trials: Gene Mutations
Fertility Issues, Single-Gene Defects
Whole Genome Sequencing (WGS) on IVF Embryos and Individual Patients
This research project aims to utilise recent advances in whole genome sequencing of preimplantation genetic diagnosis embryos to investigate the impact of paternal age on de novo mutation rates in IVF embryos.
- Trial name
- EmbryoWGS (NCT05739890)
- Testing
- Embryo genome sequencing, Parents genome sequencing
- Where
- 4 sites in United States, Turkey (Türkiye)
- Volunteers
- 100 people
- Sponsor
- GenEmbryomics Pty. Ltd
NSCLC
Efficacy and Safety of Furmonertinib in Patients With Locally Advanced or Metastatic NSCLC With EGFR Exon 20 Insertion
This is a Phase 2, Multicenter, Open-Label Study to Assess the Efficacy and Safety of Furmonertinib in Patients with Locally Advanced or Metastatic Non-Small Cell Lung Cancer (NSCLC) with Epidermal Growth Factor Receptor (EGFR)…
- Trial name
- NCT05466149
- Testing
- Furmonertinib
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Allist Pharmaceuticals, Inc.
Sickle Cell Disease, Vaso-occlusive Crisis
A Study to Evaluate the Long-term Safety of Inclacumab Administered to Participants With Sickle Cell Disease
This study is an open-label study to evaluate the safety of long-term administration of inclacumab in participants with sickle cell disease (SCD). Participants in this study will have completed a prior study of inclacumab.
- Conditions
- Sickle Cell Disease, Vaso-occlusive Crisis, Vaso-occlusive Pain Episode in Sickle Cell Disease
- Trial name
- NCT05348915
- Testing
- Inclacumab
- Where
- 50 sites in United States, Brazil and 8 more
- Volunteers
- 242 people
- Sponsor
- Pfizer
Chronic Phase Chronic Myelogenous Leukemia, Accelerated Phase Chronic Myelogenous Leukemia
CALLS: CML and Ph+ALL Low Level Mutation Prevalence Survey
A multicenter, prospective cohort study of the mutation status of patients with chronic myeloid leukemia (CML) and Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) who are being treated with first or…
- Conditions
- Chronic Phase Chronic Myelogenous Leukemia, Accelerated Phase Chronic Myelogenous Leukemia, Blastic Phase Chronic Myelogenous Leukemia, Philadelphia Chromosome-positive Acute Lymphoblastic Leukemia
- Trial name
- NCT03647215
- Where
- 33 sites in Ireland, United Kingdom
- Volunteers
- 427 people
- Sponsor
- Incyte Biosciences UK
Locally Advanced Urothelial Carcinoma, Metastatic Urothelial Carcinoma
Safety and Preliminary Anti-Tumor Activity of TYRA-300 in Advanced Urothelial Carcinoma and Other Solid Tumors With FGFR3 Gene Alterations
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), and preliminary antitumor activity of TYRA-300 in cancers with FGFR3 activating gene alterations, including locally advanced/metastatic…
- Conditions
- Locally Advanced Urothelial Carcinoma, Metastatic Urothelial Carcinoma, Solid Tumor, Urothelial Carcinoma
- Trial name
- SURF301 (NCT05544552)
- Testing
- TYRA-300
- Where
- 19 sites in United States, Australia and 2 more
- Volunteers
- 310 people
- Sponsor
- Tyra Biosciences, Inc
X-Linked Retinitis Pigmentosa
4D-125 in Patients With X-Linked Retinitis Pigmentosa (XLRP)
This is a Phase 1/2 multicenter study with two parallel parts: an observational natural history cohort and an open-label, prospective interventional trial in males with non-syndromic X-linked retinitis pigmentosa (XLRP) due to…
- Trial name
- NCT04517149
- Testing
- 4D-125 IVT Injection, Observational
- Where
- 8 sites in United States
- Volunteers
- 21 people
- Sponsor
- 4D Molecular Therapeutics
Solid Tumors With PTCH1 Loss-of-function Mutations
A Study Evaluating the Safety and Efficacy of ENV-101 (Taladegib) in Patients With Advanced Solid Tumors Harboring PTCH1 Loss of Function Mutations
This study employs a 2-stage design that aims to evaluate the efficacy and safety of ENV- 101, a potent Hedgehog (Hh) pathway inhibitor, in patients with refractory advanced solid tumors characterized by loss of function (LOF)…
- Trial name
- NCT05199584
- Testing
- ENV-101 (taladegib)
- Where
- 16 sites in United States
- Volunteers
- 20 people
- Sponsor
- Endeavor Biomedicines, Inc.
Advanced Solid Tumor, Metastatic Solid Tumor
Safety/Efficacy Study of CID-078 in Patients With Advanced Solid Tumor Malignancies
This is a first-in-human, multicenter, open-label, phase 1 study to evaluate safety, tolerability, and efficacy of CID-078, a Cyclin A/B-RxL inhibitor, in patients with advanced solid tumors.
- Conditions
- Advanced Solid Tumor, Metastatic Solid Tumor, Refractory Solid Tumor, Cancer
- Trial name
- NCT06577987
- Testing
- CID-078 Monotherapy
- Where
- 10 sites in United States
- Volunteers
- 220 people
- Sponsor
- Circle Pharma
Familial Hypercholesterolemia
Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Children With Inherited Elevated Low-density Lipoprotein Cholesterol (Familial Hypercholesterolemia)
The main purpose of this study is to describe the safety and tolerability of 80 weeks of subcutaneous (SC) evolocumab when added to standard of care in children 10 to 17 years of age with familial hypercholesterolemia.
- Trial name
- HAUSER-OLE (NCT02624869)
- Testing
- Evolocumab
- Where
- 46 sites in United States, Australia and 21 more
- Volunteers
- 163 people
- Sponsor
- Amgen
Otoferlin Gene-mediated Hearing Loss
Long Term Follow-up Study of AAVAnc80-hOTOF Gene Therapy
This multi-center, observational, post-intervention long term follow-up (LTFU) study will monitor for safety and efficacy of AAVAnc80-hOTOF in individuals with sensorineural hearing loss due to otoferlin gene mutations who have…
- Trial name
- NCT06696456
- Where
- 5 sites in United States, Spain and 1 more
- Volunteers
- 30 people
- Sponsor
- Akouos, Inc.
HER2 Positive Breast Neoplasms, Hormone Receptor Positive Breast Neoplasms
A Safety Study of SGN-LIV1A in Breast Cancer Patients
This study will examine the safety and tolerability of ladiratuzumab vedotin (LV) in patients with metastatic breast cancer. LV will be given alone or in combination with trastuzumab.
- Conditions
- HER2 Positive Breast Neoplasms, Hormone Receptor Positive Breast Neoplasms, Triple Negative Breast Neoplasms, HER2 Mutations Breast Neoplasms
- Trial name
- NCT01969643
- Testing
- ladiratuzumab vedotin, Trastuzumab
- Where
- 38 sites in United States
- Volunteers
- 290 people
- Sponsor
- Seagen Inc.
Acute Myeloid Leukemia
Safety and Efficacy of Quizartinib in Children and Young Adults With Acute Myeloid Leukemia (AML), a Cancer of the Blood
Quizartinib is an experimental drug. It is not approved for regular use. It can only be used in medical research. Children or young adults with a certain kind of blood cancer (FLT3-ITD AML) might be able to join this study if it…
- Trial name
- NCT03793478
- Testing
- Quizartinib, Fludarabine, Cytarabine
- Where
- 27 sites in United States, Belgium and 8 more
- Volunteers
- 65 people
- Sponsor
- Daiichi Sankyo
Lung Cancer
NovellusDx Functional Profiling of Oncogenic Mutations in Lung Cancer Patients
NovellusDx technology identifies tumor-specific driver mutations, but unlike sequencing-based tests, NovellusDx has a functional assay that detects dis-regulated translocation of mutated signaling proteins to the nucleus.
- Trial name
- NCT02274025
- Where
- Israel
- Volunteers
- 20 people
- Sponsor
- Fore Biotherapeutics
Breast Cancer
Phase I Study of the HS-10352 in Patients With Advanced Breast Cancer
HS-10352 is a highly potent and selective small molecule inhibitor of phosphoinositide 3-kinase (p110α). In preclinical studies, it demonstrated strong activity against PI3K p110α in vitro and in vivo, and inhibited tumor cell…
- Trial name
- NCT04631835
- Testing
- HS-10352
- Where
- 3 sites in China
- Volunteers
- 54 people
- Sponsor
- Jiangsu Hansoh Pharmaceutical Co., Ltd.
Solid Tumors Harboring Somatic HER2 or EGFR Exon 18 Mutations
Basket Study of Neratinib in Participants With Solid Tumors Harboring Somatic HER2 or EGFR Exon 18 Mutations
This is an open-label, multicenter, multinational, Phase 2 basket study exploring the efficacy and safety of neratinib as monotherapy or in combination with other therapies in participants with HER (EGFR, HER2) mutation-positive…
- Trial name
- SUMMIT (NCT01953926)
- Testing
- Neratinib, Fulvestrant, Trastuzumab
- Where
- 60 sites in United States, Australia and 11 more
- Volunteers
- 582 people
- Sponsor
- Puma Biotechnology, Inc.
Locally Advanced or Metastatic Non-Small Cell Lung Cancer, EGFR Exon20 Insertion Mutations
Real-World Effectiveness of Osimertinib for Patients With Non-Small Cell Lung Cancer
This study is a retrospective real-world study to evaluate the efficacy of Osimertinib for patients with advanced or metastatic EGFR 20exon insertion mutation (20ins) Non-Small Cell Lung Cancer.
- Trial name
- NCT05513664
- Testing
- Osimertinib
- Where
- 24 sites in China
- Volunteers
- 80 people
- Sponsor
- Shanghai JMT-Bio Inc.
Carcinoma, Non-Small-Cell Lung
A Study of Intermittent, High-dose Afatinib to Determine the Maximal Tolerated Dose and Assess Activity of This Dose Against Non-small Cell Lung Cancer With T790M Mutations
This trial is divided into Part A and Part B. The primary objective of Part A is to establish the Maximal Tolerated Dose of intermittent high dose afatinib.
- Trial name
- NCT01647711
- Testing
- Dose escalation followed by treatment with MTD
- Where
- 2 sites in United States
- Volunteers
- 35 people
- Sponsor
- Boehringer Ingelheim
Stargardt Disease
An Observational Study in Children and Adults With Stargardt Disease
This multicenter, prospective, longitudinal, observational study in approximately 80 subjects with Stargardt disease secondary to biallelic mutations in the ABCA4 gene (STGD1) aims to evaluate prognostic factors of disease…
- Trial name
- NCT06591806
- Where
- 2 sites in United States, Norway
- Volunteers
- 80 people
- Sponsor
- AAVantgarde Bio Srl
Pancreatic Cancer
An Open-label, Multicenter, Phase II Clinical Study to Evaluate HRS-7058 in Patients With Pancreatic Cancer
This is a multicenter, open-label, single-arm, phase II cilinical trial designed to evaluate the efficacy and safety of the KRAS G12C selective inhibitor HRS-7058 in patients with KRAS G12C-mutated advanced pancreatic cancer who…
- Trial name
- NCT07589569
- Testing
- HRS-7058
- Where
- 2 sites in China
- Volunteers
- 92 people
- Sponsor
- Shandong Suncadia Medicine Co., Ltd.
Methylmalonic Acidemia
Long-term Follow-up Study of Patients Who Received hLB-001 Gene Therapy
This is a non-interventional long-term follow-up study of patients who have participated in LogicBio studies for the treatment of MMA and received hLB-001
- Trial name
- NCT05506254
- Testing
- hLB-001
- Where
- 4 sites in United States
- Volunteers
- 4 people
- Sponsor
- Alexion Pharmaceuticals, Inc.