Clinical trials: Gene Mutations
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
KRAS Gene Mutation, Recurrent Lung Non-Small Cell Carcinoma
Trametinib and Docetaxel in Treating Patients With Recurrent or Stage IV KRAS Mutation Positive Non-small Cell Lung Cancer
This phase II trial studies how well trametinib and docetaxel work in treating patients with stage IV KRAS mutation positive non-small cell lung cancer or cancer that has come back.
- Conditions
- KRAS Gene Mutation, Recurrent Lung Non-Small Cell Carcinoma, Stage IV Lung Non-Small Cell Cancer AJCC v7
- Trial name
- NCT02642042
- Testing
- Docetaxel, Laboratory Biomarker Analysis, Trametinib
- Where
- 596 sites in United States
- Volunteers
- 60 people
- Sponsor
- National Cancer Institute (NCI)
Wilms Tumor, Rhabdoid Tumor
A Study of Selinexor in People With Wilms Tumors and Other Solid Tumors
The purpose of this study is to find out whether selinexor is an effective treatment for people who have a relapsed/refractory Wilms tumor, rhabdoid tumor, MPNST, BCOR-driven sarcoma, or another solid tumor that makes a higher…
- Conditions
- Wilms Tumor, Rhabdoid Tumor, Malignant Peripheral Nerve Sheath Tumors, MPNST
- Trial name
- NCT05985161
- Testing
- Selinexor
- Where
- 16 sites in United States
- Volunteers
- 45 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Gene Mutations, Pseudoxanthoma Elasticum
ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency
The purpose of this study (Study INZ701-304 [ADAPT]) is to assess the long-term safety of INZ-701 in patients with ENPP1 Deficiency or ABCC6 Deficiency who have received INZ-701 in an existing clinical study and choose to…
- Conditions
- Gene Mutations, Pseudoxanthoma Elasticum, Arterial Calcification, Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
- Trial name
- NCT06462547
- Testing
- INZ-701
- Where
- 5 sites in United States, France and 2 more
- Volunteers
- 22 people
- Sponsor
- Inozyme Pharma
Uveal Melanoma, Cutaneous Melanoma
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
This research will have a significant impact on the overall management of those cancer patients and their family members who are at risk for hereditary cancer due to germline inactivation of BAP1.
- Conditions
- Uveal Melanoma, Cutaneous Melanoma, BAP1 Gene Mutation, Renal Cell Carcinoma
- Trial name
- NCT04792463
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Mohamed Abdel-Rahman
Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae.
- Conditions
- Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder, RCDP - Rhizomelic Chondrodysplasia Punctata, D-Bifunctional Protein Deficiency
- Trial name
- NCT01668186
- Where
- Canada
- Volunteers
- 244 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Desmoid Tumor, NOTCH Gene Mutation Positive Tumors
Individual Patient Compassionate Use of Nirogacestat
This program is being offered on a patient by patient basis and will require company, Institutional Review Board/Independent Ethics Committee, and applicable competent authority approval.
- Trial name
- NCT05041036
- Testing
- Nirogacestat (Gamma Secretase Inhibitor)
- Where
- 2 sites in United States, Germany
- Sponsor
- SpringWorks Therapeutics, Inc., a healthcare company of Merck KGaA, Darmstadt, Germany
GATA2 Gene Mutation
Study for Characterisation of Predictive Parameters of Clonal Evolution in Subjects With GATA2 Germline Mutation
This trial is a translational, open-label, multi-site, retrospective and prospective cohort study of 250 patients aiming to characterize predictive parameters of clonal evolution in a population of subjects carrying the germline…
- Trial name
- GATA-2 (NCT05983991)
- Testing
- Biological samples (blood and bone marrow samples).
- Where
- 24 sites in France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Institut Claudius Regaud
Turner Syndrome, Short Stature Homeobox Gene Mutation
Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders
This basket trial will enroll prepubertal children and adolescents with clinically diagnosed and genetically confirmed (if applicable) TS, SHOX-D, SGA, or ISS between ages of ≥2 and <18 years with open growth plates.
- Conditions
- Turner Syndrome, Short Stature Homeobox Gene Mutation, Idiopathic Short Stature, Small for Gestational Age at Delivery
- Trial name
- NCT07221851
- Testing
- Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector
- Where
- 51 sites in United States, France and 5 more
- Volunteers
- 186 people
- Sponsor
- Ascendis Pharma A/S
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
GJB2-mediated Hearing Loss, GJB2 Gene Mutation
Open-label Study of SKY-GJB2 in Pediatric Subjects With GJB2-mediated Hearing Loss
Skylark Bio is conducting a study of an investigational new drug called SKY-GJB2 and its delivery device, the SKY-CAT. SKY-GJB2 is a gene therapy that is being developed to treat children who have hearing loss due to changes in…
- Conditions
- GJB2-mediated Hearing Loss, GJB2 Gene Mutation, DFNB1A
- Trial name
- SONIX (NCT07627971)
- Testing
- SKY-GJB2
- Where
- 4 sites in United States
- Volunteers
- 10 people
- Sponsor
- Skylark Bio 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
DNMT3A Gene Mutation
Metformin Inhibits DNMT3A Clonal Hematopoiesis in Acute Leukemia
This is a prospective, single-arm clinical study evaluating the efficacy and safety of metformin in inhibiting DNMT3A R882-driven clonal hematopoiesis (CH) in patients with acute leukemia (AL) who are in remission and under…
- Trial name
- NCT07188740
- Testing
- Metformin
- Where
- China
- Volunteers
- 32 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)
A Study of DB-OTO, an Adeno-Associated Virus (AAV) Based Gene Therapy, in Children/Infants, Adolescents and Adults With Hearing Loss Due to Otoferlin Mutations
Regeneron is conducting a study of an investigational new drug called DB-OTO. DB-OTO is a gene therapy that is being developed to treat pediatric and adult participants who have severe-to profound and profound hearing loss due to…
- Trial name
- CHORD (NCT05788536)
- Testing
- DB-OTO
- Where
- 17 sites in United States, Germany and 3 more
- Volunteers
- 36 people
- Sponsor
- Regeneron Pharmaceuticals
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6
- Trial name
- NCT01060371
- Testing
- Genetic Testing, Blood Collection, Magnetic Resonance Imaging (MRI) Scan
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- Lauren Moore
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Biphenotypic Leukemia
Personalized NK Cell Therapy in CBT
This phase II clinical trial studies how well personalized natural killer (NK) cell therapy works after chemotherapy and umbilical cord blood transplant in treating patients with myelodysplastic syndrome, leukemia, lymphoma or…
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Biphenotypic Leukemia, Acute Lymphoblastic Leukemia, Acute Lymphoblastic Leukemia in Remission
- Trial name
- NCT02727803
- Testing
- Allogeneic Natural Killer Cell Line NK-92, Anti-Thymocyte Globulin, Busulfan
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- M.D. Anderson Cancer Center
OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy.
- Trial name
- OPA-LONG (NCT07729982)
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- Ludwig-Maximilians - University of Munich
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
OTOF Gene Mutation, DFNB9
A Phase I/II Clinical Trial With SENS-501 in Children Suffering From Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations
This study intends to assess safety, tolerability, and efficacy of SENS-501 in children between the ages of 6-31 months with pre-lingual hearing loss due to a mutation in the Otoferlin gene.
- Conditions
- OTOF Gene Mutation, DFNB9, Congenital Deafness, Hearing Disorders
- Trial name
- AUDIOGENE (NCT06370351)
- Testing
- SENS-501 administration
- Where
- 2 sites in Australia, France
- Volunteers
- 12 people
- Sponsor
- Sensorion
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