Genetic Diseases

Pipeline Programs

Companies

Clinical Trials

2 recruiting

Approved Products

Pipeline by Development Stage

Preclinical

Phase 1

Phase 1/2

Phase 2

Phase 2/3

Phase 3

On Market

Early DiscoveryClinical DevelopmentMarket

Competitive Landscape

5 companies ranked by most advanced pipeline stage

Pre

P1/2

P2/3

Mkt

Human BioSciencesWV - Martinsburg

3 programs

3-year follow-upN/A

Genomic sequencing and molecular diagnostic results, if any.N/A

Microarray analysisN/A1 trial

Active Trials

NCT01279733Completed4,450Est. Oct 2011

GenomicsUK - Oxford

3 programs

Genomic sequencing and molecular diagnostic results, if anyN/A1 trial

Genomic sequencing and molecular diagnostic results, if any.N/A

Active Trials

NCT03385876Enrolling By Invitation100,000Est. Dec 2050

NCT02917460Recruiting102,000Est. Dec 2050

Genome & CompanyKorea - Suwon

2 programs

3-year follow-upN/A1 trial

Genomic sequencing and molecular diagnostic results, if any.N/A1 trial

Active Trials

NCT02160938Completed184Est. Dec 2018

NCT03211039Unknown213Est. Jul 2024

Imagine PharmaPA - Pittsburgh

2 programs

Biological SamplesN/A1 trial

Whole genome sequencing and Genome-Epigenome-Phenome AssociationsN/A1 trial

Active Trials

NCT06235580Recruiting1,000Est. Dec 2035

NCT06260319Completed720Est. Jan 2024

Eloxx PharmaceuticalsARLINGTON, MA

1 program

ELX-02PHASE_11 trial

Active Trials

NCT02807961Terminated42Est. May 2017

Trial Timeline

Clinical trial activity over time

2021

2022

2023

2024

2025

2026

2027

2028

2029

2030

2031

Eloxx PharmaceuticalsELX-02

Imagine PharmaWhole genome sequencing and Genome-Epigenome-Phenome Associations

GenomicsGenomic sequencing and molecular diagnostic results, if any

Genome & CompanyGenomic sequencing and molecular diagnostic results, if any.

GenomicsGenomic sequencing and molecular diagnostic results, if any

Imagine PharmaBiological Samples

Genome & Company3-year follow-up

Human BioSciencesMicroarray analysis

Clinical Trials (8)

Total enrollment: 208,609 patients across 8 trials

NCT02807961 Eloxx PharmaceuticalsELX-02

Safety, Tolerability, Pharmacokinetics of ELX-02 in Healthy Adult Volunteers

Start: Jul 2016Est. completion: May 201742 patients

Phase 1Terminated

NCT06260319 Imagine PharmaWhole genome sequencing and Genome-Epigenome-Phenome Associations

Decoding Developmental Disorders in Humams

Start: Jan 2019Est. completion: Jan 2024720 patients

N/ACompleted

NCT03385876 GenomicsGenomic sequencing and molecular diagnostic results, if any

Rapid Whole Genome Sequencing Study

Start: Aug 2017Est. completion: Dec 2050100,000 patients

N/AEnrolling By Invitation

NCT03211039 Genome & CompanyGenomic sequencing and molecular diagnostic results, if any.

Perinatal Precision Medicine

Start: Jun 2017Est. completion: Jul 2024213 patients

N/AUnknown

NCT02917460 GenomicsGenomic sequencing and molecular diagnostic results, if any

Rady Children's Institute Genomic Biorepository

Start: Jul 2016Est. completion: Dec 2050102,000 patients

N/ARecruiting

NCT06235580 Imagine PharmaBiological Samples

Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions

Start: Dec 2015Est. completion: Dec 20351,000 patients

N/ARecruiting

NCT02160938 Genome & Company3-year follow-up

Prenatal Microarray Follow-Up Study

Start: Feb 2013Est. completion: Dec 2018184 patients

N/ACompleted

NCT01279733 Human BioSciencesMicroarray analysis

Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis

Start: Oct 2008Est. completion: Oct 20114,450 patients

N/ACompleted

Phase Legend

Preclinical— Lab & animal studies

Phase 1— Safety & dosing

Phase 2— Efficacy testing

Phase 3— Large-scale trials

On Market— Approved & available

Key Insights

2 actively recruiting trials targeting 208,609 patients

5 companies competing in this space

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