Clinical trials: Mutations
Pancreatic Cancer, Small Bowel Cancer
Expanded Access to Ulixertinib (BVD-523) in Patients With Advanced MAPK Pathway-Altered Malignancies
The objective of this expanded access program is to provide ulixertinib (BVD-523) for compassionate use in advanced cancer patients with MAPK pathway-altered solid tumor(s), including but not limited to KRAS, NRAS, HRAS, BRAF…
- Conditions
- Pancreatic Cancer, Small Bowel Cancer, Colorectal Cancer, Melanoma
- Trial name
- NCT04566393
- Testing
- Ulixertinib (BVD-523)
- Where
- 26 sites in United States
- Sponsor
- xCures
Malformations, Multiple Abnormalies
Phenotype and Etiology of Pallister-Hall Syndrome
We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl…
- Conditions
- Malformations, Multiple Abnormalies, Polydactyly
- Trial name
- NCT00001404
- Where
- 4 sites in United States, Turkey (Türkiye)
- Volunteers
- 1,170 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Pentalogy of Cantrell, Mutations in Non-muscle Genes
Genes Mutation Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes.
- Trial name
- NCT00477932
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Healthcare of Atlanta
Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia
A Study of Revumenib in R/R Leukemias Including Those With an MLL/KMT2A Gene Rearrangement or NPM1 Mutation
Phase 1 dose escalation will determine the maximum tolerated dose (MTD) and recommended Phase 2 dose (RP2D) of revumenib in participants with acute leukemia.
- Conditions
- Acute Myeloid Leukemia, Acute Lymphoblastic Leukemia, Mixed Lineage Acute Leukemia, Mixed Phenotype Acute Leukemia
- Trial name
- AUGMENT-101 (NCT04065399)
- Testing
- revumenib, cobicistat
- Where
- 57 sites in United States, Australia and 9 more
- Volunteers
- 447 people
- Sponsor
- Syndax Pharmaceuticals
Ovarian Cancer
Olaparib +/- Cediranib or Chemotherapy in Patients With Platinum-resistant Ovarian Cancer
The trial will compare the drugs olaparib and cediranib with standard chemotherapy in platinum resistant ovarian cancer. Patients will be randomised to one of three treatment groups: olaparib only, olaparib and cediranib and the…
- Trial name
- OCTOVA (NCT03117933)
- Testing
- Olaparib, Cediranib, Paclitaxel
- Where
- 14 sites in United Kingdom
- Volunteers
- 139 people
- Sponsor
- University of Oxford
CHAPLE Disease
A Study to Test the Safety of Pozelimab in Pediatric Participants 1 to 5 Years of Age With a Rare Disease Called CHAPLE (Complement Hyperactivation, Angiopathic Thrombosis, Protein-losing Enteropathy) Disease
This study is researching a drug called pozelimab (called "study drug"). The main aim of this study is to monitor the safety and tolerability of the study drug.
- Trial name
- NCT07142343
- Testing
- Pozelimab
- Where
- Turkey (Türkiye)
- Volunteers
- 5 people
- Sponsor
- Regeneron Pharmaceuticals
Retinitis Pigmentosa, Eye Diseases, Hereditary
Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
The purpose of this study is to characterize the natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy, also called retinitis pigmentosa type 11, or RP11.
- Conditions
- Retinitis Pigmentosa, Eye Diseases, Hereditary, Retinal Dystrophies, Retinal Dystrophy Rod
- Trial name
- NCT05573984
- Where
- 7 sites in United States, Australia
- Volunteers
- 50 people
- Sponsor
- PYC Therapeutics
Primary Hyperoxaluria
Primary Hyperoxaluria Mutation Genotyping
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.
- Trial name
- NCT00589225
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 902 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Marfan Syndrome, FBN1 Mutation
Genome-wide Epistasis for Cardiovascular Severity in Marfan Study
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular systems.
- Trial name
- GEMS (NCT06257004)
- Testing
- Saliva collection (screening of all participants), Bloodsampling
- Where
- Belgium
- Volunteers
- 200 people
- Sponsor
- University Hospital, Antwerp
SLC13A5 Citrate Transporter Disorder
Intrathecal Gene Therapy For SLC13A5 Citrate Transporter Disorder
Phase 1/2, open-label study to assess the efficacy and safety of a single lumbar intrathecal administration of TSHA-105 in individuals with SLC13A5 Citrate Transporter Disorder
- Trial name
- SLC13A5 (NCT07102524)
- Testing
- TSHA-105
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- TESS Research Foundation
Cystic Fibrosis
A Phase 3 Study of VX-121 Combination Therapy in Participants With Cystic Fibrosis (CF) Heterozygous for F508del and a Minimal Function Mutation (F/MF)
The purpose of this study evaluates the efficacy and safety of VX-121/tezacaftor/deutivacaftor (VX-121/TEZ/D-IVA) in CF participants who were heterozygous for F508del and a minimal function mutation (F/MF participants).
- Trial name
- NCT05033080
- Testing
- VX-121/TEZ/D-IVA, ELX/TEZ/IVA, IVA
- Where
- 139 sites in United States, Australia and 10 more
- Volunteers
- 435 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
BRAF V600 Mutation, Low-grade Glioma
Dabrafenib and Trametinib for BRAF V600 Mutant Low-Grade Gliomas
This phase II trial studies how well de-escalating the drugs dabrafenib and trametinib works in treating patients with low-grade gliomas that have a BRAF V600 gene mutation.
- Conditions
- BRAF V600 Mutation, Low-grade Glioma, Low Grade Glioma of Brain, Recurrent Low Grade Glioma
- Trial name
- PNOC037 (NCT07110246)
- Testing
- Dabrafenib, Trametinib, Magnetic Resonance Imaging (MRI)
- Where
- 12 sites in United States
- Volunteers
- 96 people
- Sponsor
- University of California, San Francisco
Ovarian Cancer
FLABRA: Frontline Approach for BRCA Testing in OC Treatment naïve Population. A LATIN AMERICA Epidemiologic Study
This study aims to answer very important questions regarding the prevalence of somatic and germline mutations (sBRCAm and gBRCAm) in a population of newly diagnosed ovarian cancer patients from Latin America.
- Trial name
- FLABRA (NCT02984423)
- Where
- 27 sites in Argentina, Brazil and 4 more
- Volunteers
- 471 people
- Sponsor
- AstraZeneca
Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L
Development of the Tool " iPSC " for the Functional Study of Mutations Responsible for Mental Retardation
According to the World Health Organization (WHO), mental retardation (MR) is defined by an intelligence quotient (IQ) < 70 and touches between 1 to 3 % of the general population.
- Conditions
- Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L, Healthy Volunteers
- Trial name
- Rementips (NCT02980302)
- Testing
- Cutaneous biopsy
- Where
- France
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- University Hospital, Grenoble
Peroxisome Biogenesis Disorders
Betaine and Peroxisome Biogenesis Disorders
The PBD are a rare group of inherited disorders due to the failure to form functional cellular peroxisomes. Most patients have progressive hearing and visual loss, leading to deafness and blindness, as well as neurological…
- Trial name
- NCT01838941
- Testing
- Betaine
- Where
- Canada
- Volunteers
- 12 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Cerebellar Ataxias, Spastic Paraplegias
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Cerebellar ataxias (CA) and spastic paraplegias (SP) are genetically and clinically very heterogeneous. More than 40 loci are already known but the number of phenotypes is even greater suggesting further genetic heterogeneity.
- Trial name
- Spatax (NCT00140829)
- Where
- 27 sites in Algeria, Belgium and 13 more
- Volunteers
- 6,000 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Biallelic RPE65 Mutation-associated Retinal Dystrophy
Gene Therapy in Subjects With Biallelic RPE65 Mutation-associated Retinal Dystrophy
The goal of this clinical trial is to evaluate the safety, tolerability and efficacy of subretinal administration of FT-001 in subjects with biallelic RPE65 mutation-associated retinal dystrophy.
- Trial name
- NCT05858983
- Testing
- FT-001 Low Dose, FT-001 Mid Dose, FT-001 High Dose
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Frontera Therapeutics
Cystic Fibrosis
Roll-Over Study of Ivacaftor in Cystic Fibrosis Pediatric Subjects With a CF Transmembrane Conductance Regulator Gene (CFTR) Gating Mutation
The purpose of this study is to provide information regarding the long-term safety and pharmacodynamics of ivacaftor treatment in the pediatric population younger than 6 years of age with Cystic Fibrosis (CF) who have a CFTR…
- Trial name
- NCT01946412
- Testing
- Ivacaftor
- Where
- 16 sites in United States, Canada and 1 more
- Volunteers
- 33 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Melanoma, Adjuvant
Compassionate Use Program BRAF Mutation-positive Patients in the Adjuvant Treatment of Melanoma After Surgical Resection
The purpose of this Treatment Plan is to allow access to trametinib and dabrafenib for eligible high-risk BRAF mutation-positive patients in the adjuvant treatment of melanoma after surgical resection.
- Trial name
- NCT04544202
- Testing
- Dabrafenib and Trametinib, Dabrafenib, Trametinib
- Sponsor
- Novartis Pharmaceuticals
Hypereosinophilic Syndrome, Systemic Mastocytosis
Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes
This trial is for various types of malignancies which may depend on certain enzymes (tyrosine kinases) for growth. The objective of this study is to assess to what extent imatinib mesylate blocks these enzymes and to assess the…
- Conditions
- Hypereosinophilic Syndrome, Systemic Mastocytosis, Chronic Myelomonocytic Leukemia, Dermatofibrosarcoma
- Trial name
- NCT00171912
- Testing
- imatinib mesylate
- Where
- Australia
- Volunteers
- 38 people
- Sponsor
- Novartis Pharmaceuticals