Clinical trials: Genes
Autosomal Dominant Hypocalcemia
ADH1 and ADH2 Disease Monitoring Study (DMS)
A global, multi-center, Disease Monitoring Study (DMS) in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1) or Autosomal Dominant Hypocalcemia Type 2 (ADH2) designed to characterize ADH1 and ADH2 disease…
- Trial name
- CLARIFY (NCT05227287)
- Where
- 27 sites in United States, Australia and 11 more
- Volunteers
- 95 people
- Sponsor
- Calcilytix Therapeutics, Inc., a BridgeBio company
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma
Olaparib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With Defects in DNA Damage Repair Genes (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well olaparib works in treating patients with solid tumors, non-Hodgkin lymphoma, or histiocytic disorders with defects in deoxyribonucleic acid (DNA) damage repair genes that have…
- Conditions
- Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma, Ann Arbor Stage IV Childhood Non-Hodgkin Lymphoma, Low Grade Glioma
- Trial name
- NCT03233204
- Testing
- Olaparib
- Where
- 113 sites in United States, Puerto Rico
- Volunteers
- 6 people
- Sponsor
- National Cancer Institute (NCI)
Glioblastoma, IDH1 Gene Mutation
BGB-290 and Temozolomide in Treating Isocitrate Dehydrogenase (IDH)1/2-Mutant Grade I-IV Gliomas
This phase I trial studies the side effects and best dose of BGB-290 and temozolomide in treating adolescents and young adults with IDH1/2-mutant grade I-IV glioma that is newly diagnosed or has come back.
- Conditions
- Glioblastoma, IDH1 Gene Mutation, IDH2 Gene Mutation, Low Grade Glioma
- Trial name
- PNOC017 (NCT03749187)
- Testing
- PARP Inhibitor BGB-290, Temozolomide (TMZ)
- Where
- 11 sites in United States
- Volunteers
- 78 people
- Sponsor
- University of California, San Francisco
Sickle Cell Disease, Vaso-occlusive Crisis
A Study of a Single Dose of Inclacumab to Reduce Re-admission in Participants With Sickle Cell Disease and Recurrent Vaso-occlusive Crises
This Phase 3 study will assess the safety and efficacy of a single dose of inclacumab, a P-selectin inhibitor, for a vaso-occlusive crisis (VOC) after an index VOC in participants with sickle cell disease (SCD).
- Conditions
- Sickle Cell Disease, Vaso-occlusive Crisis, Vaso-occlusive Pain Episode in Sickle Cell Disease
- Trial name
- NCT04927247
- Testing
- Inclacumab
- Where
- 59 sites in United States, Brazil and 12 more
- Volunteers
- 72 people
- Sponsor
- Pfizer
Renal Tumor Histology, Cutaneous Leiomyoma
Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer
This study will investigate what causes hereditary leiomyomatosis renal (kidney) cell cancer, or HLRCC, and how the disease is related to the development of kidney tumors.
- Conditions
- Renal Tumor Histology, Cutaneous Leiomyoma, Kidney Cancer
- Trial name
- NCT00050752
- Where
- United States
- Volunteers
- 1,350 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Pompe Disease
Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease
Pompe disease is an inherited condition of acid alpha-glucosidase (GAA) deficiency resulting in lysosomal accumulation of glycogen in all tissues. Glycogen accumulation leads to muscle dysfunction and profound muscle weakness.
- Trial name
- NCT00976352
- Testing
- rAAV1-CMV-GAA (study agent) Administration, RMST
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Florida
Cystic Fibrosis
Correction of Nonsense Mutations in Cystic Fibrosis
The presence of a nonsense mutation leads to the rapid degradation of the carrier mRNA mutation by a mechanism called NMD (nonsense-mediated mRNA decay) [6, 13].
- Trial name
- NCT03670472
- Testing
- smear of nasal fossae
- Where
- 8 sites in France
- Volunteers
- 85 people
- Sponsor
- University Hospital, Lille
Primary Ciliary Dyskinesia
PCD New Gene Discovery
This is a new gene discovery program for individuals with PCD who do not have a specific genetic etiology identified. Research procedures involve a single blood draw from the affected individual and from unaffected family members…
- Trial name
- NCT03801395
- Testing
- There is no intervention
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Vanderbilt University Medical Center
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Hypertension, Psychosocial Factors
Relationship of Genes and Life Events to Blood Pressure
Research suggests that blood pressure is influenced by both genetic and environmental factors. The goal of this study is to find genes that play a role in blood pressure and understand how they interact with life events (such as…
- Trial name
- NCT00327431
- Testing
- Cheek swab samples for DNA
- Where
- Canada
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Sunnybrook Health Sciences Centre
Hepatitis B
Immunogenicity and Safety of the Hepatitis B Vaccine Hepavax-Gene TF and a Comparator Hepatitis B Vaccine in Newborns
The primary purpose of this study is to determine whether HepavaxGene TF is non-inferior to the comparator vaccine both at impeding hepatitis B transmission from mothers positive for chronic hepatitis B (Stratum 1) to their…
- Trial name
- NCT01349283
- Testing
- HepavaxGene (thiomersal free), Engerix B
- Where
- China
- Volunteers
- 1,738 people, healthy volunteers welcome
- Sponsor
- Crucell Holland BV
Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
A Phase I/II Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC
This Phase I/II trial is to prove the efficacy and safety of AAV2-hAADC to treat patients with AADC deficiency.
- Trial name
- AADC (NCT01395641)
- Testing
- gene therapy
- Where
- Taiwan
- Volunteers
- 10 people
- Sponsor
- National Taiwan University Hospital
Respiratory Distress Syndrome, Newborn
ABCA3 Gene and RDS in Late Preterm and Term Infants
Respiratory distress syndrome (RDS) is the most common respiratory cause of mortality and morbidity in very preterm infants, but it also could be seen in late preterm and term infants.
- Trial name
- NCT04137783
- Testing
- no intervention
- Where
- China
- Volunteers
- 39 people
- Sponsor
- Children's Hospital of Chongqing Medical University
Balanced Chromosomal Translocation
Breakpoint Analysis of de Novo Apparently Balanced Chromosomal Translocations
For every child with developmental delay, the investigators do a constitutional karyotype. This karyotype can reveal an apparently balanced chromosomal rearrangement (no visible loss or gain of genetic material), such as a…
- Trial name
- NCT01826708
- Testing
- Identification of breakpoints
- Where
- France
- Volunteers
- 10 people
- Sponsor
- University Hospital, Montpellier
Primary Immuno-Deficiencies
Evaluation of the Efficacy of the Sequencing Method by Gene-panel
In order to accelerate the identification of genes responsibles of PID, and to improve the diagnosis of PID, the research team would like to validate a rapid and targeted method of high-throughput sequencing, on 301 genes, known…
- Trial name
- Génétique-DIH (NCT02954640)
- Testing
- Blood sampling
- Where
- France
- Volunteers
- 115 people
- Sponsor
- Imagine Institute
Achromatopsia
Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia (A Clarity Clinical Trial)
This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of AGTC-402, administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGA3 gene.
- Trial name
- NCT02935517
- Testing
- AGTC-402
- Where
- 6 sites in United States, Israel
- Volunteers
- 24 people
- Sponsor
- Beacon Therapeutics
Lymphoma, Non-Hodgkin, Multiple Myeloma
TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer
The purpose of the study is to learn from the real world practice of prescribing targeted therapies to patients with advanced cancer whose tumor harbors a genomic variant known to be a drug target or to predict sensitivity to a…
- Conditions
- Lymphoma, Non-Hodgkin, Multiple Myeloma, Advanced Solid Tumors
- Trial name
- TAPUR (NCT02693535)
- Testing
- Sunitinib (CLOSED TO ENROLLMENT), Trastuzumab and Pertuzumab (CLOSED TO ENROLLMENT), Vemurafenib and Cobimetinib (CLOSED TO ENROLLMENT)
- Where
- 181 sites in United States, Puerto Rico
- Volunteers
- 4,200 people
- Sponsor
- American Society of Clinical Oncology
DNMT3A Gene Mutation
Metformin Inhibits DNMT3A Clonal Hematopoiesis in Acute Leukemia
This is a prospective, single-arm clinical study evaluating the efficacy and safety of metformin in inhibiting DNMT3A R882-driven clonal hematopoiesis (CH) in patients with acute leukemia (AL) who are in remission and under…
- Trial name
- NCT07188740
- Testing
- Metformin
- Where
- China
- Volunteers
- 32 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Hepatocellular Carcinoma
Analysis of Expression of Specific Markers in Hepatocellular Carcinoma
Hepatocellular carcinoma is an aggressive disease with limited therapeutic options. Therefore, new approaches to treat this type of cancer are needed with immunotherapy potentially being one of these.
- Trial name
- NCT00858000
- Testing
- Retrospective analysis of already archived samples
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- GlaxoSmithKline
Congenital Heart Disease
Genetics of Congenital Heart Disease
Congenital heart disease (CHD) is the most common type of birth defect but the cause for the majority of cardiac birth defects remains unknown.
- Trial name
- NCT01192048
- Testing
- Blood Sample Collection
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital
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