Clinical trials: Mutations
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
MELAS Syndrome
Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome
Patients with the MELAS syndrome experience devastating mental impairment. This study will evaluate the effectiveness of the drug dichloroacetate (DCA) to reduce the symptoms of MELAS.
- Trial name
- NCT00068913
- Testing
- Dichloroacetate
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Duchenne Muscular Dystrophy
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
This study is designed to evaluate the ability of ataluren to increase dystrophin protein levels in muscle cells of participants with nmDMD.
- Trial name
- NCT03648827
- Testing
- Ataluren
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- PTC Therapeutics
Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies
Single Ascending Dose Study in Participants With LCA10
The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of EDIT-101 administered via subretinal injection in participants with LCA10 caused by a homozygous or compound…
- Conditions
- Leber Congenital Amaurosis 10, Inherited Retinal Dystrophies, Eye Diseases, Hereditary, Retinal Disease
- Trial name
- NCT03872479
- Testing
- EDIT-101
- Where
- 5 sites in United States
- Volunteers
- 34 people
- Sponsor
- Editas Medicine, Inc.
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)
Gastric Cancer, Gastric Neoplasm
Surgery in Gastrointestinal Stromal Tumors (GISTs) for Treatment, Tumor Modeling, and Genomic Analysis
Objective: To follow people with GISTs and collect tumor tissue so that it can be studied in the lab. Eligibility: People age 6 and older who have a GIST.
- Conditions
- Gastric Cancer, Gastric Neoplasm, Gastrointestinal Stromal Sarcoma, Gastrointestinal Stromal Neoplasm
- Trial name
- NCT04557969
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- National Cancer Institute (NCI)
Leukemia
Next Generation Sequencing (NGS) in Familial Acute Myeloid Leukemia and Myelodisplastic Syndromes
The aim of this study is to look for predisposing mutations in patients and relatives affected by AML and MDS with familial history of myeloid or, less frequently, lymphoid malignancies.
- Trial name
- NCT03058588
- Testing
- Analysis with molecular biology
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
Cystic Fibrosis (CF), Pancreatic Insufficiency
Safety of Stopping Pancreatic Enzyme Replacement Therapy in Children With Improved Pancreatic Function After Highly Effective Modulator Therapy
The goal of this clinical trial is to evaluate the safety of stopping pancreatic enzyme replacement therapy (PERT) in children with cystic fibrosis (CF) receiving CFTR modulator therapy (CFTRm) who have regained pancreatic…
- Conditions
- Cystic Fibrosis (CF), Pancreatic Insufficiency, Pancreas Disease, Exocrine Pancreatic Insufficiency
- Trial name
- NCT07632768
- Testing
- Discontinuation of Pancreatic Enzyme Replacement Therapy
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Indiana University
Leukemia
Biomarkers in Bone Marrow Samples From Patients With Acute Myeloid Leukemia
RATIONALE: Studying samples of bone marrow from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01251159
- Testing
- mutation analysis, polymerase chain reaction, immunologic technique
- Volunteers
- 30 people
- Sponsor
- ECOG-ACRIN Cancer Research Group
Cystic Fibrosis
A Study Evaluating the Long-term Safety and Efficacy of VX-445 Combination Therapy
The study evaluates the long-term safety and tolerability of VX-445 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are homozygous or heterozygous for the F508del…
- Trial name
- NCT03525574
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 110 sites in United States, Australia and 11 more
- Volunteers
- 507 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Mutations in Exons 18 to 21
Pathomolecular Analysis of Rare EGFR Mutations in Advanced NSCLC
While current mutational analyses comprise exons 19 and 21 in which the majority of EGFR-mutations occur, this study aims at investigating the relevance of exon 18 and 20 mutations.
- Trial name
- NCT01215474
- Where
- Germany
- Volunteers
- 500 people
- Sponsor
- Provitro GmbH
Primary/Relapsed Acute Lymphoblastic Leukemia (ALL) of Childhood, Adolescents and Young Adults
Patient-individualized Peptide Vaccination Based on Tumor-specific Mutations in Children and Young Adults With Primary/Relapsed ALL
The aim of this clinical study is to evaluate the feasibility and safety of an individualized peptide vaccination approach in patients with acute lymphoblastic leukemia (ALL).
- Trial name
- NCT03559413
- Testing
- Individual peptide vaccination with adjuvant GM-CSF and Imiquimod
- Where
- 5 sites in Germany
- Volunteers
- 30 people
- Sponsor
- University Children's Hospital Tuebingen
Familial Hemophagocytic Lymphohistiocytosis Type 3 (FHL 3)
Safety and Efficacy of Gene Therapy of FHL Type 3 Caused by Mutations in the Human UNC13D Gene by Transplantation of a Single Dose of Autologous CD34+ Cells Transduced ex Vivo With the UNC13D LV Vector Expressing the UNC13D cDNA
The investigators propose to replace HLA- partially compatible allogeneic Hematopoietic Stem Cell Transplantation (HSCT) for FHL type 3 patients, with autologous transplantation of immunoselected gene-modified CD34+ cells…
- Trial name
- MUNC13-4 (NCT06736080)
- Testing
- MUNC-CD34, MUNC-T3
- Where
- France
- Volunteers
- 5 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cystic Fibrosis
A Study to Evaluate the Safety of Long-term Ivacaftor Treatment in Participants With Cystic Fibrosis Who Are Less Than 24 Months of Age at Treatment Initiation and Have an Approved Ivacaftor-Responsive Mutation
This is a Phase 3, 2-arm, multicenter study with an open-label ivacaftor arm and an observational arm to evaluate the safety and efficacy of long-term ivacaftor treatment in participants with cystic fibrosis (CF) who are <24…
- Trial name
- NCT03277196
- Testing
- IVA
- Where
- 29 sites in United States, Australia and 4 more
- Volunteers
- 86 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Posterior Column Ataxia With Retinitis Pigmentosa
Antisense Oligonucleotide Treatment for PCARP Disease Due to Mutation in FLVCR1
The goal of this clinical trial is to evaluate a specific antisense oligonucleotide medication in one patient with posterior column ataxia with retinitis pigmentosa.
- Trial name
- NCT06565572
- Testing
- nL-FLVC-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Colorado, Denver
Attention Deficit Disorder With Hyperactivity
A Noninterventional Genotype/Phenotype Study of mGluR Mutations in Children and Adolescents With ADHD
This noninterventional study will assess genomic changes in the metabotropic glutamate receptor (mGluR) network in children and adolescents with ADHD.
- Trial name
- NCT02811211
- Where
- United States
- Volunteers
- 1,894 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
Hypertrophic Cardiomyopathy
Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM
The purpose of this trial is to determine whether treatment with valsartan will have beneficial effect in early hypertrophic cardiomyopathy (HCM) by assessing many domains that reflect myocardial structure, function and…
- Trial name
- VANISH (NCT01912534)
- Testing
- Valsartan
- Where
- 15 sites in United States, Canada
- Volunteers
- 211 people
- Sponsor
- Carelon Research
Cystic Fibrosis, Homozygous for the F508del CFTR Mutation
A Study of Lumacaftor in Combination With Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older Who Are Homozygous for the F508del-CFTR Mutation
The primary objective of the study was to evaluate the efficacy of lumacaftor in combination with ivacaftor at Week 24 in participants aged 12 years and older with cystic fibrosis (CF) who are homozygous for the F508del mutation…
- Trial name
- TRANSPORT (NCT01807949)
- Testing
- Lumacaftor Plus Ivacaftor Combination, Ivacaftor
- Where
- 82 sites in United States, Australia and 8 more
- Volunteers
- 563 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
A Phase 3 Study to Evaluate the Efficacy and Safety of Ivacaftor and VX-661 in Combination With Ivacaftor in Subjects Aged 12 Years and Older With Cystic Fibrosis, Heterozygous for the F508del-cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation
The purpose of this study is to evaluate the efficacy and safety of VX-661 in combination with ivacaftor (IVA, VX-770) and IVA monotherapy in participants with Cystic Fibrosis (CF) who are heterozygous for F508del-CFTR allele and…
- Trial name
- NCT02392234
- Testing
- VX-661/Ivacaftor, Ivacaftor
- Where
- 93 sites in United States, Australia and 9 more
- Volunteers
- 248 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Diffuse Astrocytoma, Anaplastic Astrocytoma
Study of Efficacy and Safety of Dabrafenib in Combination With Trametinib in Pediatric Patients With BRAF V600 Mutation Positive LGG or Relapsed or Refractory HGG Tumors
The purpose of this study was to investigate the activity of dabrafenib in combination with trametinib in children and adolescent patients with BRAF V600 mutation positive low grade glioma (LGG) or relapsed or refractory high…
- Conditions
- Diffuse Astrocytoma, Anaplastic Astrocytoma, Astrocytoma, Oligodendroglioma, Childhood
- Trial name
- NCT02684058
- Testing
- Dabrafenib, trametinib, Carboplatin
- Where
- 57 sites in United States, Argentina and 18 more
- Volunteers
- 151 people
- Sponsor
- Novartis Pharmaceuticals