Skip to main content

Table 4 Active and completed studies using genomic sequencing results as the primary outcome measure (source: http://www.clinicaltrials.gov, July 2011)

From: Genomic sequencing in clinical trials

Study Title/Sponsor

NCT #/

# Enrolled/

Start Date

Condition

Description

Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

NICHD

NCT01375543

100

June 2011

Genetic diseases (pediatric)

Use of DNA samples to conduct exome and genome sequencing

Feasibility Clinical Study of Targeted and Genome-Wide Sequencing

University Health Network, Toronto

NCT01345513

100

March 2011

Solid Tumors

Targeted and genome-wide sequencing of DNA to enable molecular characterization of tumors.

Biomarkers in Tissue Samples from Patients with High-Risk Wilms Tumor

NCI

NCT01118078

100

March 2010

Kidney Cancer

Application of array-based methods and NGS to identify candidate molecular targets

Whole Genome Medical Sequencing for Genome Discovery

NHGRI

NCT01087320

100

Feb 2010

Congenital Syndromes/

Genetic Disorders

Using genomic sequencing to identify genetic causes of disorders that are difficult to identify with existing techniques

Studying DNA in Tumor Tissue Samples from Patients with Localized or Metastatic Osteosarcoma

NCI

NCT01062438

99

Jan 2010

Sarcoma

Genomic expression profile in osteosarcoma tumor samples using transcriptome sequencing

Genetics of Congenital Heart Disease

Nationwide Children's Hospital

NCT01192048

1000

Dec 2009

Congenital Heart Disease

Direct sequencing and/or microarray, whole-genome array comparative genomic hybridization (CGH)

Integrated Whole-Genome Analysis of Hematologic Disorders

Stanford University

NCT01108159

100

Sept 2009

Hematologic Diseases

Whole-genome analysis/high-throughput sequencing using blood, bone marrow and skin biopsy samples

Study of Tissue Samples from Patients with Lymphoma

NCI

NCT00952809

300

March 2009

Lymphoma; Small Intestinal Cancer

Generation of genome-wide maps of the distribution of nucleosomes and histone modifications as assessed by high throughput sequencing (ChIP-Seq)

Genetics of Endocrine Tumours

Barts & The London NHS Trust

NCT00461188

150

March 2007

Acromegaly

Tumor samples studied using candidate gene sequencing

DNA Analysis of Tumor Tissue Samples from Patients with Diffuse Brain Stem Glioma

St. Jude Children's Research Hospital

NCT00899834

30

June 2006

Brain & CNS Tumors

Genome-wide expression of RNA in tumor samples using gene expression profiling. Direct sequencing analysis of tumor DNA

ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study

NHGRI

NCT00410241

2000

Dec 2006

Cardiovascular Disease

Sequencing ~ 400 genes related to heart disease

Laboratory Study of Lymphoblasts in Young Patients with High-Risk ALL

NCI

NCT00896766

150

July 2006

Leukemia

Pilot application of array-based methods and gene re-sequencing to identify candidate molecular targets for ALL

Genome Expression in Lymphoma, Leukemia and Multiple Myeloma

NCI

NCT00339963

3000

Nov 2001

Lymphoma, Leukemia

Multiple Myeloma

Participating centers send samples to the NCI for gene expression profiling, array-based comparative genomic hybridization and cancer gene re-sequencing.