Clinical trials: Mutations
Advanced Solid Tumor
A Phase I/IIa Study of JAB-23E73 in Patients With Advanced Solid Tumors Harboring KRAS Gene Alteration
This is a multicenter, open-label, phase I/IIa to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics, and preliminary antitumor activity of pan-KRAS inhibitor JAB-23E73 in patients with advanced solid…
- Trial name
- NCT06959615
- Testing
- JAB-23E73
- Where
- 32 sites in China
- Volunteers
- 334 people
- Sponsor
- Jacobio Pharmaceuticals Co., Ltd.
C-KIT Mutation
A Study of c-Kit Mutation as MRD in Acute Myeloid Leukemia
C-Kit is involved in an essential pathway of disease occurrence and is closely related to the poor prognosis of patients. However, the clinical significance of c-Kit mutation as molecular MRD monitoring is still unclear.
- Trial name
- NCT06116318
- Where
- China
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Acute Lymphoblastic Leukemia ALL, Chronic Lymphocytic Leukemia (CLL)
Role of SF3B1 Mutation in Assessment of Acute and Chronic Lymphatic Leukemia
aim of the work 1. To evaluate the presence of SF3B1-K700E mutation in acute lymphoblastic leukemia and chronic lymphocytic leukemia. 2.
- Trial name
- NCT07113132
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- Safaa Ali
Diabetes Mellitus
Efficacy and Safety Study of Sulfonylureas in Neonatal Diabetes Mellitus
The aim of our trial is to try to switch patients with permanent neonatal diabetes mellitus due to a Kir6.2 or SUR1 activating mutation from subcutaneous insulin to oral glibenclamide therapy.
- Trial name
- GLIDKIR6-2 (NCT00610038)
- Testing
- glibenclamide
- Where
- France
- Volunteers
- 19 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Hirschsprung Disease
Genetic Mosaicism in Hirschsprung's Disease
Hirschsprung's disease is a complex genetic disorder. The etiology of this disease is not completely understood. It is characterized by the absence of ganglia (nerve cells) in de distal colon.
- Trial name
- NCT01927809
- Where
- 2 sites in Netherlands
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Erasmus Medical Center
Progressive Familial Intrahepatic Cholestasis (PFIC)
A Study to Evaluate the Efficacy and Safety of Maralixibat in Subjects With Progressive Familial Intrahepatic Cholestasis (MARCH-PFIC)
The purpose of this study is to determine whether the investigational treatment (maralixibat) is safe and effective in pediatric participants with Progressive Familial Intrahepatic Cholestasis (PFIC).
- Trial name
- MARCH-PFIC (NCT03905330)
- Testing
- Maralixibat
- Where
- 31 sites in United States, Argentina and 15 more
- Volunteers
- 93 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
TRPV4 Gene Mutation
The Natural History of TRPV4 Neuropathy
The goal of this research is to document the natural history of neuropathy in patients with a confirmed genetic mutation in the TRPV4 gene.
- Trial name
- NCT05600764
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Johns Hopkins University
Spastic Paraplegia Type 50
Administration of MELPIDA to Determine the Safety and Efficacy for Patients With Spastic Paraplegia Type 50
This will be a first-in-human Phase I, open-label, single dose clinical study of MELPIDA administered intrathecally (IT) through a lumbar puncture (LP) to a single subject with confirmed pathogenic mutations in the Adaptor…
- Trial name
- NCT06069687
- Testing
- MELPIDA
- Where
- Canada
- Volunteers
- 1 people
- Sponsor
- The Hospital for Sick Children
Giant Axonal Neuropathy (GAN)
Intraneural Administration of scAAV9/JeT-GAN Into the Vagus Nerve for Patients With Giant Axonal Neuropathy (GAN)
Giant axonal neuropathy (GAN) is a rare pediatric disorder caused by autosomal recessive mutations in the GAN gene. GAN is a multisystem, neurodegenerative disorder affecting the peripheral nervous system (PNS), central nervous…
- Trial name
- NCT07543991
- Testing
- scAAV9/JeT-GAN
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- University of Texas Southwestern Medical Center
Permanent Neonatal Diabetes Mellitus
Long-Term Sulfonylurea Response in KCNJ11 Neonatal Diabetes
The purpose of this study is to investigate long term response of sulfonylurea and glucose control in children with diabetes due to mutations in KCNJ11 that have been switched from insulin injections to sulfonylurea tablets.
- Trial name
- SuResponsKIR (NCT02624817)
- Testing
- Sulfonylurea
- Where
- Norway
- Volunteers
- 90 people
- Sponsor
- Haukeland University Hospital
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
Epilepsy Idiopathic, Clinical Disease and/or Syndrome
Omics-based Precision Medicine of Epilepsy
Epilepsy is a major disease of the nervous system (WHO, 2015), as well as the second most common neural disease. It has been recorded that there have been 65 million epilepsy patients all over the world, more than 10 million in…
- Conditions
- Epilepsy Idiopathic, Clinical Disease and/or Syndrome, Gene Mutation
- Trial name
- NCT03358459
- Testing
- non
- Where
- China
- Volunteers
- 10,000 people
- Sponsor
- Fudan University
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
Dyspepsia
Antibiotic Resistant Helicobacter Pylori in Rajavithi Hospital
Peptic ulcer disease is the most common gastrointestinal disease. Antibiotic resistant Helicobacter pylori is a major problem worldwide.
- Trial name
- NCT00285688
- Testing
- gastroscopic examination
- Where
- Thailand
- Volunteers
- 200 people
- Sponsor
- Department of Medical Services Ministry of Public Health of Thailand
Mutation
C677T Methylenetetrahydrofolate Reductase Mutation
To investigate the effect of anticoagulant treatment on pregnancy outcomes in patients with previous recurrent miscarriages (RM) who carry a methylenetetrahydrofolate reductase (MTHFR) gene mutation.
- Trial name
- C677T (NCT05864937)
- Testing
- infertily evaluation
- Where
- France
- Volunteers
- 363 people
- Sponsor
- Centre Hospitalier Universitaire, Amiens
Hypercalciuria, Urolithiasis
Stone Disease in Children and Their Families
The hypothesis of this study proposal is that pediatric urinary stone formers have genetic risk factors which predispose their urinary stone production.
- Trial name
- NCT00765531
- Volunteers
- 15 people
- Sponsor
- University of Texas Southwestern Medical Center
Duchenne Muscular Dystrophy
Study of Ataluren in ≥2 to <5 Year-Old Male Participants With Duchenne Muscular Dystrophy
This is a Phase 2, multiple-dose, open-label study evaluating the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of ataluren in participants aged ≥2 to <5 years old with Duchenne muscular dystrophy (DMD) caused by a…
- Trial name
- NCT02819557
- Testing
- Ataluren
- Where
- 6 sites in United States
- Volunteers
- 14 people
- Sponsor
- PTC Therapeutics
Leber Hereditary Optic Neuropathy
Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)
This study is meant to assess the safety and efficacy of rAAV2-ND4 treatment of Leber hereditary optic neuropathy with 11778 LHON mutation.
- Trial name
- rAAV2-ND4 (NCT01267422)
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Bin Li
Otoferlin Gene-mediated Hearing Loss
Long Term Follow-up Study of AAVAnc80-hOTOF Gene Therapy
This multi-center, observational, post-intervention long term follow-up (LTFU) study will monitor for safety and efficacy of AAVAnc80-hOTOF in individuals with sensorineural hearing loss due to otoferlin gene mutations who have…
- Trial name
- NCT06696456
- Where
- 5 sites in United States, Spain and 1 more
- Volunteers
- 30 people
- Sponsor
- Eli Lilly and Company
Thoracic Neoplasms
Phase III Trial to Evaluate the Elortinib vs Gefitinib in Advanced NSCLC With EGFR Exon 19 or 21 Mutations
This is a randomized controlled trial to compare efficacy and safety between erlotinib and gefitinib in advanced NSCLC harboring EGFR exon 19 or 21 mutations.Eligible patients were randomized to receive erlotinib or gefitinib in…
- Trial name
- NCT01024413
- Testing
- erlotinib, gefitinib
- Where
- China
- Volunteers
- 256 people
- Sponsor
- Chinese Society of Lung Cancer