Clinical trials: Mutations
Leptin Receptor Deficiency Obesity
Setmelanotide for the Treatment of Leptin Receptor (LEPR) Deficiency Obesity
To demonstrate statistically significant and clinically meaningful effects of setmelanotide on percent body weight change in participants with LEPR deficiency obesity due to rare bi-allelic or loss-of function mutations at the…
- Trial name
- NCT03287960
- Testing
- Setmelanotide
- Where
- 6 sites in Canada, France and 4 more
- Volunteers
- 15 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
DFNB9
An Investigator Initiated Study for OTOV101N+OTOV101C Injection
This study is an investigator initiated study to evaluate the safety, tolerability, and efficacy of OTOV101N+OTOV101C injection in treating patients with OTOF mutation-related deafness.
- Trial name
- NCT05901480
- Testing
- OTOV101N+OTOV101C Injections
- Where
- 23 sites in China
- Volunteers
- 25 people
- Sponsor
- Otovia Therapeutics
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
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
Polyostotic Fibrous Dysplasia
Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright Syndrome
This study will investigate how a gene mutation (change in DNA) causes the abnormal bone in fibrous dysplasia-a condition in which areas of normal bone are replaced with a fibrous growth similar to a scar.
- Trial name
- NCT00001973
- Where
- United States
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Brain Glioma
Correlation Between SPECT/CT and IDH Mutation in Brain Glioma
Major advances in cancer genetics over the past decade have revealed that the genes encoding IDHs are frequently mutated in a variety of human malignancies, including gliomas.Pentavalent 99mTc dimercaptosuccinic acid (99mTc (V)…
- Trial name
- NCT05595863
- Volunteers
- 40 people
- Sponsor
- Assiut University
Amyloidosis
Identification of Clinically Significant Markers of ATTRv in Pre-symptomatic Mutation Carriers.
The objective of this prospective observational study is to periodically monitor pre-symptomatic subjects carrying a mutation of Transthyretin (TTR), identified in the context of a family screening of affected proband, through…
- Trial name
- NCT05754099
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Jansen's Metaphyseal Chondrodysplasia
Safety and Efficacy of PTH-IA
Jansen s Metaphyseal Chondrodysplasia (JMC) is a very rare disorder with only approximately 30 people known to have the disease worldwide.
- Trial name
- NCT07541209
- Testing
- PTH-IA
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Muscular Dystrophy, Duchenne, Muscular Dystrophies
Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure…
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- ACT DMD (NCT01826487)
- Testing
- Ataluren
- Where
- 55 sites in United States, Australia and 16 more
- Volunteers
- 230 people
- Sponsor
- PTC Therapeutics
Autism Spectrum Disorder
Study of the Genetic Factors Involved in Autism and Related Disorders
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development.
- Trial name
- Gene&autism (NCT04727489)
- Testing
- DNA from subjects will be stored in the biobank of our study.
- Where
- 6 sites in France
- Volunteers
- 3,800 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Tumor, Tumor, Solid
Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
A Phase 2 multi-center open-label basket trial of nab-sirolimus for adult and adolescent patients with malignant solid tumors harboring pathogenic inactivating alterations in TSC1 or TSC2 genes
- Conditions
- Tumor, Tumor, Solid, Metastasis, Metastatic Cancer
- Trial name
- NCT05103358
- Testing
- nab-sirolimus
- Where
- 166 sites in United States, Puerto Rico and 1 more
- Volunteers
- 128 people
- Sponsor
- Aadi Bioscience, Inc.
Bardet-Biedl Syndrome 1, Retinal Degeneration
First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
The goal of this first in human study is to evaluate the preliminary safety and tolerability of AXV-101 in participants with BBS1.
- Trial name
- AXIS (NCT07269665)
- Testing
- AXV-101
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- Axovia Therapeutics
Low-grade Glioma, Pediatric Low-grade Gliomas
FCN-159 Monotherapy Versus Chemotherapy by Investigator's Choice in Pediatric Low-grade Glioma Patients With BRAF Alteration
An open-label, randomized, multi-center phase III clinical study: Aim to evaluate the efficacy and safety of FCN-159 monotherapy versus the treatment by investigator's choice in patients with pediatric low-grade glioma harboring…
- Conditions
- Low-grade Glioma, Pediatric Low-grade Gliomas, pLGG With BRAF Alteration
- Trial name
- NCT07004075
- Testing
- Luvometinib, Chemotherapeutic Agent COG-V/C Carboplatin + Vindesine, Carboplatin, Temozolomide
- Where
- China
- Volunteers
- 102 people
- Sponsor
- Shanghai Fosun Pharmaceutical Industrial Development Co. Ltd.
Mental Disorder, Fetus Disorder
Diagnosis of Prader-Willi Syndrome and Angelman Syndrome
In a retrospective study, data were assessed from cases regarding PWS/AS that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2014.
- Trial name
- NCT04155944
- Where
- Taiwan
- Volunteers
- 60 people
- Sponsor
- National Cheng-Kung University Hospital
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
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
Cystic Fibrosis
Roll-Over Study of Ivacaftor in Cystic Fibrosis Pediatric Subjects With a CF Transmembrane Conductance Regulator Gene (CFTR) Gating Mutation
The purpose of this study is to provide information regarding the long-term safety and pharmacodynamics of ivacaftor treatment in the pediatric population younger than 6 years of age with Cystic Fibrosis (CF) who have a CFTR…
- Trial name
- NCT01946412
- Testing
- Ivacaftor
- Where
- 16 sites in United States, Canada and 1 more
- Volunteers
- 33 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Confirmed Biallelic RPE65 Mutation-associated Retinal Dystrophy
A Patient Registry Study for Patients Treated With Voretigene Neparvovec in US
The objective of this study is to collect long-term safety information (i.e., for 5 years after treatment) associated with voretigene neparvovec-rzyl (vector and/or transgene), its subretinal injection procedure, the concomitant…
- Trial name
- NCT03597399
- Testing
- AAV2-hRPE65v2,voretigene neparvovec-rzyl
- Where
- 10 sites in United States
- Volunteers
- 87 people
- Sponsor
- Spark Therapeutics, Inc.
Hearing Loss
Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation
Disequilibrium between acid and base in the inner ear was suggested to be an important factor leading to hearing impairment associated with SLC26A4 mutations.
- Trial name
- NCT00789061
- Testing
- Proton pump inhibitor
- Where
- Taiwan
- Volunteers
- 120 people
- Sponsor
- National Taiwan University Hospital
Colorectal Cancer
Prognostic Value of Each Codon-specific KRAS Mutation in Colorectal Cancer
This retrospective study reviewed 3,144 patients who underwent surgery for colorectal cancer. This study was designed to comprehend the clinicopathological characteristics associated with individual codon-specific KRAS mutations…
- Trial name
- NCT05657210
- Testing
- Mutation
- Where
- South Korea
- Volunteers
- 2,203 people
- Sponsor
- Seoul National University Bundang Hospital