Clinical trials: Mutations
Detection and Genotyping of Factor V and Factor II Point Mutations
Detection of Factor V Leiden G1691A and Factor II (Prothrombin) G20210A Point Mutations in DNA
As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites.
- Trial name
- NCT00959504
- Volunteers
- 275 people, healthy volunteers welcome
- Sponsor
- Illumina, Inc.
Primary Mitochondrial Diseases
A First in Human Study to Evaluate the Safety of Infusion of MNV-BM-PLC (Autologous CD34+ Cells Enriched With Placenta Derived Allogeneic Mitochondria) in Patients With Primary Mitochondrial Diseases Associated With Mitochondrial DNA Mutation or Deletion
The study objectives are to evaluate the safety of a single intravenous (IV) infusion of autologous CD34+ cells enriched with placenta-derived allogeneic mitochondria in participant with primary mitochondrial disease associated…
- Trial name
- NCT04548843
- Testing
- Bone Marrow mobilization, Apheresis, MNV-BM-PLC infusion
- Where
- Israel
- Sponsor
- Minovia Therapeutics Ltd.
Dravet Syndrome, Epileptic Encephalopathies Associated With SCN1A Mutations
Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies
This is an expanded access use of Stiripentol in Dravet Syndrome or epileptic encephalopathies associated with sodium channel mutations who have failed other drugs in an effort to give them the best chance at seizure control and…
- Trial name
- NCT02239276
- Testing
- Stiripentol
- Where
- United States
- Sponsor
- Cook Children's Health Care System
Pediatric Philadelphia Chromosome-positive Acute Lymphoblastic Leukemia (Ph+ALL), Ph+ Mixed Phenotype Acute Leukemia (MPAL)
A Study of Ponatinib With Chemotherapy in Children, Teenagers, and Adults With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia
This study is about an anticancer drug called ponatinib which is a tyrosine kinase inhibitor given with chemotherapy to children, teenagers, and young adults up to 21 years of age with Philadelphia Chromosome-Positive Acute…
- Conditions
- Pediatric Philadelphia Chromosome-positive Acute Lymphoblastic Leukemia (Ph+ALL), Ph+ Mixed Phenotype Acute Leukemia (MPAL), Philadelphia Chromosome-Like ALL (Ph-like ALL)
- Trial name
- NCT04501614
- Testing
- Ponatinib, Chemotherapy Agents
- Where
- 64 sites in United States, Argentina and 13 more
- Volunteers
- 11 people
- Sponsor
- Takeda
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism.
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder)
- Trial name
- NCT01238250
- Where
- 2 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Simons Searchlight
Sensorineural Hearing Loss, Bilateral
Gene Therapy Trial for Otoferlin Gene-mediated Hearing Loss
Part A of this trial evaluated the safety and tolerability of a single surgical administration procedure in one or both ear(s) with one of two dose levels of AAVAnc80-hOTOF (LY888891) and evaluated the Akouos Delivery Device…
- Trial name
- NCT05821959
- Testing
- AAVAnc80-hOTOF via Akouos Delivery Device, AAVAnc80-hOTOF via Akouos Delivery Device and Precision Delivery Mechanism
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 48 people
- Sponsor
- Eli Lilly and Company
Non-small Cell Lung Cancer
The Recurrence Gene Profiles of Adjuvant Osimertinib Therapy in Resected Non-Small-Cell Lung Cancer
This study was a multicenter, real-world observational study aimed at characterizing the genomic landscape of recurrence in patients with EGFR-sensitizing mutation-positive early-stage (clinical stage IB-IIIA) non-small cell lung…
- Trial name
- RAISE (NCT06477055)
- Where
- 2 sites in China
- Volunteers
- 43 people
- Sponsor
- Hunan Province Tumor Hospital
Cystic Fibrosis
Rollover Study of Ivacaftor in Subjects With Cystic Fibrosis and a Non G551D CFTR Mutation
The purpose of this study is to evaluate the safety of long-term ivacaftor treatment in participants with cystic fibrosis (CF) from Studies 110 (NCT01614457), 111 (NCT01614470), and 113 (NCT01685801).
- Trial name
- KONTINUE (NCT01707290)
- Testing
- Ivacaftor
- Where
- 38 sites in United States, Belgium and 2 more
- Volunteers
- 125 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Leber Hereditary Optic Neuropathy
Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year
The goal of this clinical trial is to assess the efficacy and safety of GS010 gene therapy - (lenadogene nolparvovec) in subjects with LHON due to the G11778A ND4 mitochondrial mutation with a vision loss up to one year.
- Trial name
- REFLECT (NCT03293524)
- Testing
- GS010
- Where
- 13 sites in United States, Belgium and 5 more
- Volunteers
- 98 people
- Sponsor
- GenSight Biologics
Advanced Cancer, Solid Tumor
Vemurafenib in Combination With Everolimus or Temsirolimus With Advanced Cancer
The goal of this clinical research study is to find the highest tolerable dose of vemurafenib that can be given in combination with either everolimus or temsirolimus. The safety of these drug combinations will also be studied.
- Trial name
- NCT01596140
- Testing
- Vemurafenib, Everolimus, Temsirolimus
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- M.D. Anderson Cancer Center
Acute Myeloid Leukemia, Blasts 20-30 Percent of Bone Marrow Nucleated Cells
Azacitidine and Enasidenib in Treating Patients With IDH2-Mutant Myelodysplastic Syndrome
This phase II trial studies the side effects and how well azacitidine and enasidenib work in treating patients with IDH2-mutant myelodysplastic syndrome.
- Conditions
- Acute Myeloid Leukemia, Blasts 20-30 Percent of Bone Marrow Nucleated Cells, Chronic Myelomonocytic Leukemia, IDH2 Gene Mutation
- Trial name
- NCT03383575
- Testing
- Azacitidine, Enasidenib, Quality-of-Life Assessment
- Where
- 3 sites in United States
- Volunteers
- 63 people
- Sponsor
- M.D. Anderson Cancer Center
Haematological Malignancy, Malignancy
DETERMINE Trial Treatment Arm 03: Entrectinib in Adult, Paediatric and Teenage/Young Adult Patients With ROS1 Gene Fusion-Positive Cancers.
This clinical trial is looking at a drug called entrectinib. Entrectinib is approved as standard of care treatment for adult patients with non-small cell lung cancer (NSCLC) which have a particular molecular alteration called…
- Conditions
- Haematological Malignancy, Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders
- Trial name
- DETERMINE (NCT05770544)
- Testing
- Entrectinib
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Confirmed Biallelic RPE65 Mutation-associated Retinal Dystrophy
A Patient Registry Study for Patients Treated With Voretigene Neparvovec in US
The objective of this study is to collect long-term safety information (i.e., for 5 years after treatment) associated with voretigene neparvovec-rzyl (vector and/or transgene), its subretinal injection procedure, the concomitant…
- Trial name
- NCT03597399
- Testing
- AAV2-hRPE65v2,voretigene neparvovec-rzyl
- Where
- 10 sites in United States
- Volunteers
- 87 people
- Sponsor
- Spark Therapeutics, Inc.
Chronic Pancreatitis, Exocrine Pancreas Carcinoma
Biospecimen Collection to Identify Gene Mutations for High Risk Pancreatic Cancer in Pediatric Patients, INSPPIRE 2 Study
This clinical trial collects blood, saliva, urine, or stool samples to help identify possible genetic mutations that may increase a person's chance at developing pancreatic cancer.
- Conditions
- Chronic Pancreatitis, Exocrine Pancreas Carcinoma, Recurrent Acute Pancreatitis
- Trial name
- NCT06651580
- Testing
- Biospecimen Collection, Quality-of-Life Assessment, Questionnaire Administration
- Where
- 26 sites in United States, Australia and 2 more
- Volunteers
- 1,600 people
- Sponsor
- M.D. Anderson Cancer Center
Non-Small Cell Lung Cancer, Medullary Thyroid Cancer
A Study of Selpercatinib (LOXO-292) in Participants With Advanced Solid Tumors, RET Fusion-Positive Solid Tumors, and Medullary Thyroid Cancer (LIBRETTO-001)
This is an open-label, first-in-human study designed to evaluate the safety, tolerability, pharmacokinetics (PK) and preliminary anti-tumor activity of selpercatinib (also known as LOXO-292) administered orally to participants…
- Conditions
- Non-Small Cell Lung Cancer, Medullary Thyroid Cancer, Colon Cancer, Any Solid Tumor
- Trial name
- LIBRETTO-001 (NCT03157128)
- Testing
- LOXO-292
- Where
- 85 sites in United States, Australia and 14 more
- Volunteers
- 857 people
- Sponsor
- Eli Lilly and Company
AML
The Mutation Profile and Prognosis in AML With IDH1/2 Mutation
Investigators have a prospective clinical cohort including 500 adult AML patients. And investigators have stored leukemia sample from these patients. In this program investigators will do mutation profile in these patients.
- Trial name
- NCT07004816
- Testing
- Uncover mutation profiles
- Where
- China
- Volunteers
- 1,015 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
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
Bardet-Biedl Syndrome 1, Retinal Degeneration
First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
The goal of this first in human study is to evaluate the preliminary safety and tolerability of AXV-101 in participants with BBS1.
- Trial name
- AXIS (NCT07269665)
- Testing
- AXV-101
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- Axovia Therapeutics
Cardiomyopathy, Hypertrophic, Heart Hypertrophy
Cyclosporine A to Treat Hypertrophic Cardiomyopathy (HCM)
This study will examine the effectiveness of the drug cyclosporine in treating hypertrophic cardiomyopathy (HCM), a condition in which the heart muscle thickens.
- Trial name
- NCT00001965
- Testing
- Cyclosporine A
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Study of Ataluren for Previously Treated Participants With Nonsense Mutation Duchenne/Becker Muscular Dystrophy (nmDBMD) in Europe, Israel, Australia, and Canada
Duchenne/Becker muscular dystrophy (DBMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function.
- Conditions
- Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Dystrophinopathy
- Trial name
- NCT01557400
- Testing
- Ataluren
- Where
- 21 sites in Australia, Belgium and 8 more
- Volunteers
- 94 people
- Sponsor
- PTC Therapeutics