Clinical trials: Mutation, open to volunteers
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
Inherited Retinal Diseases
Safety and Efficacy Study of PUMCH-E101 Injection in Subjects with RDH12 Retinopathy
The goal of this clinical trial is to evaluate the safety and efficacy of PUMCH-E101 injection in subjects with RDH12 retinopathy.
- Trial name
- NCT06749639
- Testing
- PUMCH-E101 Injection（Low dose）, PUMCH-E101 Injection（High dose）
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Peking Union Medical College Hospital
Shwachman-Diamond Syndrome, SDS
Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe…
- Conditions
- Shwachman-Diamond Syndrome, SDS, IBMF, Congenital Neutropenia
- Trial name
- SDS-GPS (NCT06999954)
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Shwachman-Diamond Syndrome Alliance Inc
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2 Open-label study is to evaluate the long-term safety and tolerability of Ultevursen administered via intravitreal injection (IVT) in participants with Retinitis Pigmentosa due to mutations in exon 13…
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- CAPELLA (NCT07796646)
- Testing
- No intervention, will not receive any active study intervention, Intravitreal Injection of Ultevursen
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Breast Cancer, Ductal Carcinoma
Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
The goal of this research study is to evaluate the efficacy and safety of low-dose exemestane versus low-dose tamoxifen in post-menopausal women at high risk for breast cancer.
- Conditions
- Breast Cancer, Ductal Carcinoma, Estrogen-receptor-positive Breast Cancer, Atypical Lobular Hyperplasia
- Trial name
- BabyTEARS (NCT07499999)
- Testing
- Exemestane, Tamoxifen
- Where
- 2 sites in United States
- Volunteers
- 140 people
- Sponsor
- Dana-Farber Cancer Institute
Haematological Malignancy, Malignant Neoplasm
DETERMINE Trial Treatment Arm 07: Dabrafenib in Combination With Trametinib in Adult, Paediatric and Teenage/Young Adult Patients With BRAF V600 Mutation-Positive Cancers.
This clinical trial is looking at two drugs called dabrafenib and trametinib. Dabrafenib and trametinib are approved as standard of care treatment for adult patients with melanoma (a type of skin cancer) or lung cancer and in…
- Conditions
- Haematological Malignancy, Malignant Neoplasm, Lymphoproliferative Disorders, Neoplasms by Histologic Type
- Trial name
- DETERMINE (NCT07440290)
- Testing
- Dabrafenib, Trametinib
- Where
- 27 sites in United Kingdom
- Volunteers
- 30 people
- Sponsor
- Cancer Research UK
Brain Tumor, Cancer
000860: A Phase I/II Study of Zotiraciclib for Recurrent Malignant Gliomas With Isocitrate Dehydrogenase 1 or 2 (IDH1 or IDH2) Mutations
Protocol # 000860 Background: Diffuse gliomas are tumors that affect the brain and spinal cord. Gliomas that develop in people with certain gene mutations (IDH1 or IDH2) are especially aggressive. Better treatments are needed.
- Trial name
- NCT05588141
- Testing
- Zotiraciclib
- Where
- 2 sites in United States
- Volunteers
- 96 people
- Sponsor
- National Cancer Institute (NCI)
Acute Leukemia, Acute Leukemia of Ambiguous Lineage
Revumenib for the Treatment of Acute Leukemia in Patients Post-Allogeneic Stem Cell Transplant
This phase I trial tests the safety, side effects, best dose and effectiveness of revumenib in treating patients with acute leukemia after allogeneic stem cell transplant.
- Conditions
- Acute Leukemia, Acute Leukemia of Ambiguous Lineage, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
- Trial name
- NCT06575296
- Testing
- Biospecimen Collection, Bone Marrow Aspiration, Bone Marrow Biopsy
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- City of Hope Medical Center
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
Gliomas Harboring IDH1 and/or IDH2 Mutations, Glioma Glioblastoma Multiforme
Multicenter Prospective Study on MRI AI Model for Midline Glioma Subtyping and Prognosis:
A vision-language model using preoperative MRI and clinical variables has been developed to simultaneously predict three key molecular markers in midline gliomas: H3K27M, IDH, and 1p/19q.
- Conditions
- Gliomas Harboring IDH1 and/or IDH2 Mutations, Glioma Glioblastoma Multiforme, Glioma of Brainstem, Glioma, Diffuse Midline, H3K27M-mutant
- Trial name
- NCT07608003
- Where
- China
- Volunteers
- 500 people
- Sponsor
- Xiangya Hospital of Central South University
X-Linked Retinitis Pigmentosa
A Study Comparing Two Doses of AGTC-501 in Male Participants With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (DAWN)
This Phase 2 study is a non-randomized, open-label, study of the safety of AGTC-501 in participants with XLRP who have previously been treated with a full-length AAV vector-based gene therapy targeting RPGR protein.
- Trial name
- NCT06275620
- Testing
- AGTC-501 (high dose and standard corticosteroid regimen), AGTC-501 (low dose and standard corticosteroid regimen), AGTC-501 (high dose and modified corticosteroid regimen)
- Where
- 7 sites in United States
- Volunteers
- 24 people
- Sponsor
- Beacon Therapeutics
Hereditary Pancreatitis, PRSS1 Gene Mutation
French National Cohort of Patients With PRSS1 Mutations
The diagnosis of hereditary pancreatitis (PH) is based on a genetic criterion - detection of a mutation in the PRSS1 gene or on a genealogical criterion - the presence of chronic pancreatitis in at least 2 first-degree relatives…
- Trial name
- PARADISIO 1 (NCT07413029)
- Testing
- collecting their health data from their medical file and completing questionnaires.
- Where
- France
- Volunteers
- 800 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Arthrogryposis Multiplex Congenita, Piezo2 Mutation Gain of Function
Piezo2-related Arthrogryposis & physiopathOLOgy 3
Study type: Observational, non-interventional, single-center, descriptive study. Goal of the study: The goal of this observational study is to characterize the intensity, variability, and qualitative features of pain in patients…
- Trial name
- PAOLO3 (NCT07360574)
- Where
- France
- Volunteers
- 12 people
- Sponsor
- University Hospital, Grenoble
COL4A1\2, COL4A1-Related Brain Small Vessel Disease With Haemorrhage
COL4A1COL4A2: Study of Pathological Conditions Involving Multiple Organs Caused by Mutations in the COL4A1 and COL4A2 Genes
This observational and diagnostic study aims to better understand the clinical features and biological mechanisms associated with mutations in the COL4A1 and COL4A2 genes, which are known to cause a rare inherited small-vessel…
- Trial name
- NCT07374913
- Testing
- Ophtalmological and cardiological screening
- Where
- Italy
- Volunteers
- 120 people
- Sponsor
- Meyer Children's Hospital IRCCS
Leber Congenital Amaurosis 10, Blindness
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A>G…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders
- Trial name
- HYPERION (NCT06891443)
- Testing
- sepofarsen
- Where
- 18 sites in United States, Australia and 8 more
- Volunteers
- 32 people
- Sponsor
- Laboratoires Thea
Retinal Dystrophies, Color Vision Defects
Natural History Study of Inherited Retinal Diseases
This prospective, observational investigation seeks to delineate the interplay between chromatic vision deficits and both functional visual outcomes and anatomical retinal biomarkers in individuals affected by Inherited Retinal…
- Conditions
- Retinal Dystrophies, Color Vision Defects, Vision Disorders, Macular Degeneration
- Trial name
- MojiLVCDT (NCT07085533)
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Augelux Therapeutics
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
Neoplastic Syndromes, Hereditary, Cancer
Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer
Assessment of the utility of family-based (trio) whole-genome sequencing for cancer predisposition testing in sequential newly diagnosed paediatric and adolescent cancer patients
- Conditions
- Neoplastic Syndromes, Hereditary, Cancer, Genetic Predisposition to Disease
- Trial name
- PREDICT (NCT04903782)
- Testing
- Family-based whole genome sequencing
- Where
- 3 sites in Australia
- Volunteers
- 270 people
- Sponsor
- Sydney Children's Hospitals Network
Cystic Fibrosis
Rare CFTR Mutation Cell Collection Protocol (RARE)
Over 1,900 mutations in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein are implicated in causing Cystic Fibrosis (CF).
- Trial name
- RARE (NCT03161808)
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- George Solomon
AML, Adult
Avapritinib Maintenance for AML With KIT Mutations
A multicenter, single-arm clinical study of evaluate the efficacy and safety of avapritinib as maintenance therapy following allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia patients with KIT mutation.
- Trial name
- NCT06765915
- Testing
- Avapritinib
- Where
- China
- Volunteers
- 47 people
- Sponsor
- Ruijin Hospital