Clinical trials: Mutation
Cystic Fibrosis
A Phase 2 Study to Evaluate the Safety, Tolerability, PK and PD in Cystic Fibrosis Patients With at Least 1 G542X Allele
This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 with and without ivacaftor in patients with CF with at least one G542X allele or phenotypically…
- Trial name
- NCT04126473
- Testing
- ELX-02, Ivacaftor
- Where
- 9 sites in Australia, Germany and 1 more
- Volunteers
- 17 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Digestive System Disease
Epidemiological Screening of IL10RA Mutation Rate in China
The presentation of IBD in early childhood is uncommon and the monogenetic defects, especially IL-10 signaling pathway play a key role in very early onset inflammatory bowel disease (VEO-IBD).
- Trial name
- Yes (NCT03097731)
- Where
- China
- Sponsor
- Children's Hospital of Fudan University
Neurodevelopmental Disorder With or Without Variable Brain Abnormalities
Personalized Antisense Oligonucleotide for a Single Participant With MAPK8IP3 Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA)
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Neurodevelopmental Disorder with or without Brain Abnormalities (NEDBA) due to a heterozygous…
- Trial name
- NCT07197294
- Testing
- nL-MAPK8-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Denys-Drash Syndrome, Frasier Syndrome
Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases
The Wilms' tumor suppressor gene 1 (WT1) encodes for a transcription factor which plays an important role during urogenital development.
- Conditions
- Denys-Drash Syndrome, Frasier Syndrome, Nephrotic Syndrome, Wilms Tumor
- Trial name
- NCT01252901
- Where
- Germany
- Volunteers
- 52 people
- Sponsor
- Universitätsklinikum Hamburg-Eppendorf
Diffuse Midline Glioma, H3 K27M-Mutant
Genetically Modified Cells (KIND T Cells) for the Treatment of HLA-A*0201-Positive Patients With H3.3K27M-Mutated Glioma
This phase I, first-in-human trial tests the safety, side effects, and best dose of genetically modified cells called KIND T cells after lymphodepletion (a short dose of chemotherapy) in treating patients who are…
- Trial name
- PNOC018 (NCT05478837)
- Testing
- Cyclophosphamide, Fludarabine, Autologous Anti-H3.3K27M TCR-expressing T-cells
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- University of California, San Francisco
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission
Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
This phase II trial studies how well fludarabine phosphate, cyclophosphamide, total body irradiation, and donor stem cell transplant work in treating patients with blood cancer.
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
- Trial name
- NCT03333486
- Testing
- Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Roswell Park Cancer Institute
Stargardt-Like Macular Dystrophy
Stargardt-like Macular Dystrophy (STDG3) Secondary to Mutations in ELOVL4
Background: STDG3 is an inherited eye disease. Currently there is no treatment for STDG3. Past studies of STDG3 have largely looked at members of large families at a single time point.
- Trial name
- NCT04591483
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Eye Institute (NEI)
Retinitis Pigmentosa, Usher Syndrome Type 2
Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)
The purpose of this study is to evaluate the efficacy safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- NCT05158296
- Testing
- Ultevursen
- Where
- 15 sites in United States, Germany and 2 more
- Volunteers
- 7 people
- Sponsor
- Laboratoires Thea
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
24-hydroxylase Deficiency
24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry
You are being asked to take part in this research registry because you or your family member is suspected to have a 24-hydroxylase deficiency.
- Trial name
- NCT03478761
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Mayo Clinic
Study Genetic Basis of Infantile Onset Diabetes Mellitus
Gene Study for Infantile Onset Diabetes
Diabetes mellitus is a group of metabolic diseases characterized by chronic hyperglycemia resulting from defects in insulin secretion, insulin action, or both.
- Trial name
- NCT03169413
- Testing
- Human Leucocytic antigen typing and mutation of adenosine triphosphate sensitive K channel gene in diabetic patients diagnosed under the age of one year.
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assiut University
Attention Deficit Hyperactivity Disorder
PART A: Efficacy and Safety of AEVI-001 in Children and Adolescents With ADHD and With mGluR Mutations
This is PART A of a 2-part, 6-week, double-blind, dose-optimization, parallel-group study in children and adolescents (ages 6-17 years) with ADHD with and without CNVs in specific genes implicated in glutamatergic signaling and…
- Trial name
- NCT03265119
- Testing
- AEVI-001
- Where
- United States
- Volunteers
- 69 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
Gaucher Disease, Parkinson Disease
World Data on Ambroxol for Patients With GD and GBA Related PD
Ambroxol hydrochloride is an oral mucolytic drug available over-the-counter for many years as cough medicine. In 2009 it was found to also act as a pharmacological chaperone (PC) for mutant glucocerebrosidase, albeit in a…
- Conditions
- Gaucher Disease, Parkinson Disease, GBA Gene Mutation
- Trial name
- NCT04388969
- Where
- 3 sites in Israel
- Volunteers
- 300 people
- Sponsor
- Shaare Zedek Medical Center
Cystinosis
European Cystinosis Cohort 2
This European observational cohort follows patients with cystinosis, a rare lysosomal storage disease caused by CTNS mutations leading to cystine accumulation and multisystem involvement.
- Trial name
- RaDiCo-ECYSCO2 (NCT07680751)
- Where
- France
- Volunteers
- 250 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Atunomic Neuropathy
Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy
This project comprises three sets of physiological studies - testing eight specific hypotheses - that will contribute new knowledge on proprioception and motor control in a genetic disorder that affects specific components of the…
- Trial name
- NCT02876939
- Testing
- kinesiology tape around the hip, knee and ankle joints, No kinesiology tape around the hip, knee and ankle joints
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- NYU Langone Health
Muscular Dystrophy, Duchenne, DMD
The Expanded Access Use of Viltolarsen in Duchenne Muscular Dystrophy With Confirmed Exon 53 Amenable Mutation
This is an open label expanded access program for boys, 3 to 12 years old, for the treatment of Duchenne muscular dystrophy (DMD) with confirmed mutation(s) in the dystrophin gene that is amenable to skipping of exon 53.
- Trial name
- NCT04337112
- Testing
- viltolarsen
- Sponsor
- NS Pharma, Inc.
Thyroid Cancer
Molecular Markers in Thyroid Cancer
The purpose of this study is to evaluate how common gene mutations are in benign and malignant thyroid lesions.
- Trial name
- NCT00598364
- Where
- United States
- Volunteers
- 847 people
- Sponsor
- OHSU Knight Cancer Institute
Ewing Sarcoma, Osteosarcoma
Drug Sensitivity and Mutation Profiling
This study is a prospective, non-randomized observational study. Freshly isolated tumor cells will be tested for chemosensitivity to the standard of care drugs as single agents and in combinations using state-of-the-art viability…
- Conditions
- Ewing Sarcoma, Osteosarcoma, Rhabdomyosarcoma, Wilms Tumor
- Trial name
- NCT04956198
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Florida International University
Atopic Dermatitis, Eczema
Investigation of Filaggrin Gene Mutations Among Latinx Patients With Atopic Dermatitis
The study, Investigation of Filaggrin Gene Mutations among Latinx patients with Atopic Dermatitis, will examine the association between pathogenic FLG LOF variants and AD in a new population of Latinx patients for which clinical…
- Trial name
- NCT06464133
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- University of Pennsylvania