Clinical trials: Mutations
Recessive Dystrophic Epidermolysis Bullosa
Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients
Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable, devastating, inherited skin disease for which there is only supportive care.
- Trial name
- NCT02698735
- Testing
- Gentamicin
- Volunteers
- 5 people
- Sponsor
- University of Southern California
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
Retinal Dystrophy, Cone-Rod, Cone Dystrophy
Study of New Mutations in Cone Disorders
High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders.
- Conditions
- Retinal Dystrophy, Cone-Rod, Cone Dystrophy, Cone Rod Dystrophy, Macular Degeneration
- Trial name
- INTROCONE (NCT04658251)
- Testing
- Blood and/or skin biopsy
- Where
- France
- Volunteers
- 7 people
- Sponsor
- University Hospital, Lille
Epidermolysis Bullosa Dystrophica, Recessive, Epidermolysis Bullosa Dystrophica, Dominant
A Double-blind, Randomized, Intra-subject Placebo-controlled, Multicenter, Multiple Dose Study, Evaluating Safety, Proof of Mechanism, Preliminary Efficacy and Systemic Exposure in Subjects With Confirmed DDEB or RDEB Diagnosis With One or More Pathogenic Mutations in Exon 73 in the COL7A1 Gene
A double-blind, randomized, intra-subject placebo-controlled, multicenter, multiple dose study, evaluating safety, proof of mechanism, preliminary efficacy and systemic exposure in subjects with confirmed DDEB or RDEB diagnosis…
- Trial name
- NCT03605069
- Testing
- QR-313
- Where
- 6 sites in United States, France and 1 more
- Volunteers
- 2 people
- Sponsor
- Phoenicis Therapeutics
Cystic Fibrosis
Evaluation of the Evolution of Quality of Life in Relation to Naso-sinus Symptomatology Under Treatment With CFTE Modulators in Children Aged 6 to 11 Years With Cystic Fibrosis With Compatible Mutation
Cystic fibrosis is a multi-organ disease. It most often results from a genetic mutation, the delta F508 mutation, which prevents the expression of the CFTR 'régulateur de conductance transmembranaire de la fibrose kystique)…
- Trial name
- MUCOSINTRIO (NCT05581056)
- Testing
- CFTR modulators
- Where
- France
- Volunteers
- 27 people
- Sponsor
- Hospices Civils de Lyon
TECPR2
TECPR2 Observational Study
The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.
- Trial name
- NCT04485221
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- University of Florida
Leber Congenital Amaurosis 10, Blindness
A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
The purpose of this double-masked, randomized, controlled, multiple-dose study is to evaluate the efficacy, safety, tolerability and systemic exposure of sepofarsen (QR-110) administered via intravitreal injection in subjects…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- ILLUMINATE (NCT03913143)
- Testing
- sepofarsen
- Where
- 14 sites in United States, Belgium and 7 more
- Volunteers
- 36 people
- Sponsor
- ProQR Therapeutics
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma
Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well vemurafenib works in treating patients with solid tumors, non-Hodgkin lymphoma, or histiocytic disorders with BRAF V600 mutations that have spread to other places in the body…
- Conditions
- Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma, Ann Arbor Stage IV Childhood Non-Hodgkin Lymphoma, Ependymoma
- Trial name
- NCT03220035
- Testing
- Laboratory Biomarker Analysis, Vemurafenib
- Where
- 116 sites in United States, Puerto Rico
- Volunteers
- 4 people
- Sponsor
- National Cancer Institute (NCI)
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma
Selumetinib Sulfate in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Activating MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well selumetinib sulfate works in treating patients with solid tumors, non-Hodgkin lymphoma, or histiocytic disorders with MAPK pathway activation mutations that have spread to…
- Conditions
- Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma, Ann Arbor Stage IV Childhood Non-Hodgkin Lymphoma, Recurrent Childhood Central Nervous System Neoplasm
- Trial name
- NCT03213691
- Testing
- Laboratory Biomarker Analysis, Selumetinib, Selumetinib Sulfate
- Where
- 110 sites in United States, Puerto Rico
- Volunteers
- 21 people
- Sponsor
- National Cancer Institute (NCI)
MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Natural History Study - Mitochondrial Disease
Carriers of the m.3242A>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms.
- Trial name
- NCT01532791
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Columbia University
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
Centronuclear Myopathy
Early Phase Human Drug Trial to Investigate Dynamin 101 (DYN101) in Patients ≥ 16 Years With Centronuclear Myopathies
There are no available treatments aside from supportive care for patients with Centronuclear myopathy (CNM). This trial will assess the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD)/preliminary efficacy of…
- Trial name
- Unite-CNM (NCT04033159)
- Testing
- DYN101
- Where
- 8 sites in Belgium, Denmark and 4 more
- Volunteers
- 14 people
- Sponsor
- Dynacure
NLRC4-GOF, AIFEC (Autoinflammation With Infantile Enterocolitis), XIAP Deficiency, CDC42 Mutations
Study to Evaluate the Efficacy, Safety and Tolerability of MAS825 in Patients With Monogenic IL-18 Driven Autoinflammatory Diseases, Including NLRC4-GOF, XIAP Deficiency, or CDC42 Mutations
This study is a Phase 2 trial designed to evaluate the clinical efficacy, safety, and tolerability of MAS825 in patients with NLRC4-GOF, XIAP deficiency, or CDC42 mutations.
- Trial name
- MASter-1 (NCT04641442)
- Testing
- MAS825
- Where
- 12 sites in United States, Czechia and 5 more
- Volunteers
- 17 people
- Sponsor
- Novartis Pharmaceuticals
Low Grade Astrocytoma, Low Grade Glioma
A Study of the Drugs Selumetinib vs. Carboplatin and Vincristine in Patients With Low-Grade Glioma
This phase III trial compares the effect of selumetinib versus the standard of care treatment with carboplatin and vincristine (CV) in treating patients with newly diagnosed or previously untreated low-grade glioma (LGG) that…
- Conditions
- Low Grade Astrocytoma, Low Grade Glioma, Metastatic Low Grade Astrocytoma, Metastatic Low Grade Glioma
- Trial name
- NCT04166409
- Testing
- Biospecimen Collection, Carboplatin, Echocardiography Test
- Where
- 132 sites in United States, Canada and 1 more
- Volunteers
- 170 people
- Sponsor
- National Cancer Institute (NCI)
Advanced Cancers
Phosphatidylinositol 3 Kinase and Mammalian Target of Rapamycin (PI3K-mTOR) in Advanced Cancer Patients
The goal of this clinical research study is to learn if temsirolimus can help to control advanced cancer in patients who also have a PI3K mutation and/or PTEN loss. The safety of this drug will also be tested.
- Trial name
- NCT00877773
- Testing
- Temsirolimus
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- M.D. Anderson Cancer Center
Cystic Fibrosis
Does a Nasal Instillation of Vardenafil Normalize the Nasal Potential Difference in Cystic Fibrosis Patients?
The purpose of this study is to investigate the effect of a nasal instillation of Vardenafil on nasal potential difference in cystic fibrosis patients homozygous for the F508del mutation
- Trial name
- NCT01002534
- Testing
- Vardenafil
- Where
- Belgium
- Volunteers
- 5 people
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Relapsed/Refractory Leukemias, Acute Lymphoblastic Leukemia
A Study of Revumenib in Combination With Chemotherapy in Participants With R/R Acute Leukemia
The purpose of this study is to determine the safety and tolerability of revumenib when given in combination with 2 different chemotherapy regimens in participants with relapsed/refractory acute leukemias harboring KMT2A…
- Conditions
- Relapsed/Refractory Leukemias, Acute Lymphoblastic Leukemia, Acute Lymphocytic Leukemia, Mixed Phenotype Acute Leukemia
- Trial name
- NCT05326516
- Testing
- Revumenib, Chemotherapy Regimen 1, Chemotherapy Regimen 2
- Where
- 11 sites in United States, Canada
- Volunteers
- 30 people
- Sponsor
- Syndax Pharmaceuticals
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome
Natural Killer Cells Before and After Donor Stem Cell Transplant in Treating Patients With Acute Myeloid Leukemia, Myelodysplastic Syndrome, or Chronic Myelogenous Leukemia
This phase I/II studies the side effects and best dose of natural killer cells before and after donor stem cell transplant and to see how well they work in treating patients with acute myeloid leukemia, myelodysplastic syndrome…
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome, Acute Myeloid Leukemia With Gene Mutations, Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
- Trial name
- NCT01904136
- Testing
- Allogeneic Hematopoietic Stem Cell Transplantation, Bone Marrow Transplantation, Cyclophosphamide
- Where
- United States
- Volunteers
- 54 people
- Sponsor
- M.D. Anderson Cancer Center
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD
The aim of this study is to identify families with ADPKD , characterize the phenotype and screen for mutations in known genes (PKD1 and PKD2, and then HNF1b and UMOD in PKD1 PKD2 negative carriers).
- Trial name
- GeneQuest (NCT02112136)
- Testing
- Blood Collection
- Where
- 25 sites in France
- Volunteers
- 1,450 people
- Sponsor
- University Hospital, Brest
Sensorineural Hearing Loss, Hearing Disorder
Genetic Analysis of Hereditary Disorders of Hearing and Balance
This study will try to identify the genetic causes of hereditary hearing loss or balance disorders. People with a hearing or balance disorder that affects more than one family member may be eligible for this study.
- Conditions
- Sensorineural Hearing Loss, Hearing Disorder, Vestibular Disease
- Trial name
- NCT00023049
- Where
- 2 sites in United States, Nigeria
- Volunteers
- 335 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)