Clinical trials: Genome
MDS, ALL
Optical Genome Mapping in Hematological Malignancies
Establish the diagnostic potential of optical genome mapping in patients with suspected hematologic cancer
- Conditions
- MDS, ALL, Other Hematologic Malignant Neoplasms
- Trial name
- CARTOGEN (NCT05009537)
- Where
- 4 sites in France
- Volunteers
- 200 people
- Sponsor
- University Hospital, Brest
Transplant Complication, Kidney Transplant
"A Privacy-protecting Environment for Child Transplants Health Related and Genomic Data Integration in the European Reference Network"
Protect_Child_101 is an observational study to be performed in children that have undergone a liver or renal transplant. The aim of this study is to analyse small variations in the genetic material (DNA) of transplanted children.
- Conditions
- Transplant Complication, Kidney Transplant, Liver Transplant
- Trial name
- Protect_Child (NCT07194057)
- Testing
- Whole genome sequencing, Polygenic Risk Score Calculation, Methylome and episignatures
- Where
- 4 sites in Germany, Italy and 1 more
- Volunteers
- 200 people
- Sponsor
- Instituto de Investigación Hospital Universitario La Paz
Narcolepsy Type 1
Clinical and Neurophysiological Characteristics of Narcolepsy
The study is the first attempt in post-Soviet Russian history to collect and analyze the existing available data of narcolepsy cohort in order to get prove characteristics of narcolepsy in Russia according to known data.
- Trial name
- NCT05375890
- Testing
- no intervention
- Where
- 11 sites in Russia
- Volunteers
- 89 people
- Sponsor
- I.M. Sechenov First Moscow State Medical University
Autism Spectrum Disorder
Genome Environment Microbiome and Metabolome in Autism Study
GEMMA is a multicenter longitudinal observational study that follows children who are genetically at-risk of developing autism for their first three years of life, seeking to identify potential biomarkers predictive of autism…
- Trial name
- GEMMA (NCT04271774)
- Where
- 3 sites in United States, Ireland and 1 more
- Volunteers
- 344 people
- Sponsor
- Massachusetts General Hospital
MPS I
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I
The purpose of the study is to evaluate the safety, tolerability of ascending doses of SB-318. SB-318 is an intravenously delivered Zinc Finger Nuclease (ZFN) Therapeutic for genome editing.
- Trial name
- NCT02702115
- Testing
- SB-318
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Sangamo Therapeutics
Melanoma (Skin)
Study of Tumor Tissue Samples From Patients With Stage I, Stage II, or Stage III Malignant Melanoma
RATIONALE: Studying the genes expressed in samples of tumor tissue from patients with cancer may help doctors identify biomarkers related to cancer.
- Trial name
- NCT00991991
- Testing
- gene expression analysis, polymerase chain reaction, polymorphism analysis
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Case Comprehensive Cancer Center
Adverse Drug Reaction (ADR)
National Active Surveillance Network and Pharmacogenomics of Adverse Drug Reactions in Children
The purpose of the study is (1) to identify and collect samples from children and adults who take drugs and have adverse drug reactions AND children and adults who take drugs and do not experience any adverse drug effects; (2) to…
- Trial name
- NCT00414115
- Where
- Canada
- Volunteers
- 7,000 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Breast Tumor
Analysis of Prognostic and Predictive Genomic Signatures Using Archival Paraffin-embedded Breast Tumor - a Pilot Study
A number of prognostic and/or predictive genomic signatures for breast cancer have been developed by Genome Institute of Singapore (GIS).
- Trial name
- NCT01247467
- Testing
- Breast Tumor Blocks
- Where
- Singapore
- Volunteers
- 10 people
- Sponsor
- National University Hospital, Singapore
Malaria,Falciparum, Malaria in Pregnancy
Plasmodium Falciparum Genomic Intelligence in Mozambique
Mozambique is among the ten countries with the highest burden of malaria worldwide, with an estimated 9.3 million cases in 2018, and constitutes a core target for the World Health Organization (WHO) and the Roll Back Malaria…
- Conditions
- Malaria,Falciparum, Malaria in Pregnancy, Malaria
- Trial name
- GenMoz (NCT05306067)
- Testing
- LDH-based malaria rapid diagnostic test, Malaria rapid diagnostic test
- Where
- Mozambique
- Volunteers
- 21,848 people, healthy volunteers welcome
- Sponsor
- Centro de Investigacao em Saude de Manhica
Recurrent Pregnancy Loss(RPL)
Genomics and Microbiome Investigation in Cases of Recurrent Pregnancy Losses
Recurrent pregnancy losses (RPL) are characterized by the occurrence of more than one spontaneous pregnancy loss. It is caused by different known factors, but about half of the cases remain without an explanation.
- Trial name
- NCT06604338
- Testing
- Exome test, Microbiota analysis
- Where
- Brazil
- Volunteers
- 20 people
- Sponsor
- Hospital de Clinicas de Porto Alegre
Malignant Solid Neoplasm, Recurrent Adrenal Gland Pheochromocytoma
Tipifarnib for the Treatment of Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With HRAS Gene Alterations, a Pediatric MATCH Treatment Trial
This phase II pediatric MATCH trial studies how well tipifarnib works in treating patients with solid tumors that have recurred or spread to other places in the body (advanced), lymphoma, or histiocytic disorders, that have a…
- Conditions
- Malignant Solid Neoplasm, Recurrent Adrenal Gland Pheochromocytoma, Recurrent Ectomesenchymoma, Recurrent Ependymoma
- Trial name
- NCT04284774
- Testing
- Tipifarnib
- Where
- 172 sites in United States, Puerto Rico
- Volunteers
- 5 people
- Sponsor
- National Cancer Institute (NCI)
Spinal Cord Astrocytoma
Genomic Landscape of Intramedullary Astrocytoma
intramedullary astrocytoma is a rare and devastating spinal cord glioma. while the management of intracranial astrocytoma includes gross total resection, radiotherapy and chemotherapy, spinal cord astrocytoma is very difficult to…
- Trial name
- GIMA (NCT04211974)
- Testing
- whole-exome sequencing
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Xuanwu Hospital, Beijing
Leukemia
Studying DNA in Blood and Bone Marrow Samples From Young Patients With Acute Lymphoblastic Leukemia
RATIONALE: Studying samples of blood and bone marrow from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Trial name
- NCT01016379
- Testing
- DNA analysis, biologic sample preservation procedure, laboratory biomarker analysis
- Volunteers
- 1,000 people
- Sponsor
- Children's Oncology Group
Vocal Cord Paralysis
Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis
Vocal cord paralysis is a common cause of congenital stridor and airway obstruction. In this study we plan to identify the genetic locus of the genes in two extended families who suffer of the disease.
- Trial name
- NCT00382369
- Where
- Israel
- Volunteers
- 11 people
- Sponsor
- Hadassah Medical Organization
Mucopolysaccharidosis II, MPS II
Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
The purpose of the study is to evaluate the safety, tolerability and effect on leukocyte and plasma Iduronate 2-Sulfatase (IDS) enzyme activity of ascending doses of SB-913.
- Trial name
- NCT03041324
- Testing
- SB-913
- Where
- 5 sites in United States
- Volunteers
- 9 people
- Sponsor
- Sangamo Therapeutics
Epilepsy; Seizure, Neuromuscular Diseases
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family…
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability
- Trial name
- NCGENES2 (NCT03548779)
- Testing
- Pre-visit prep, usual care + exome seq
- Where
- 3 sites in United States
- Volunteers
- 548 people
- Sponsor
- University of North Carolina, Chapel Hill
Acne Vulgaris
Profiles Analysis of Genome Wide Association Study (GWAS) in Acne Vulgaris in Indonesia.
This study is a series of descriptive-analytic studies on genomic variants in the facial skin of patients with AV at the Dermatology and Venereology Polyclinic by determining the genetic profile by GWAS examination in AVB and…
- Trial name
- NCT06501560
- Testing
- GWAS
- Where
- Indonesia
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Dr.dr.Irma Bernadette, SpKK (K)
Rheumatic Heart Disease, Mitral Stenosis
Genetic Susceptibility to Rheumatic Heart Disease in the Pacific Region
The purpose of this study is to investigate whether there are genetic differences between patients with rheumatic heart disease and members of the general population.
- Trial name
- NCT02188862
- Where
- 3 sites in Fiji, New Caledonia and 1 more
- Volunteers
- 2,372 people, healthy volunteers welcome
- Sponsor
- University of Oxford
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
Heart Defects, Congenital
Genetics of Ventriculo-arterial Discordance
Number of centres planned : 16 centres in France Type of study / Study design : Research Involving the Human Person category 2. Multicentric. Prospective Planning of the study : Total duration: 57,5 months.
- Trial name
- PreciPed (NCT05330338)
- Testing
- Genetic analyses: whole genome sequencing
- Where
- 16 sites in France
- Volunteers
- 600 people
- Sponsor
- Nantes University Hospital