Rare Diseases & Orphan Drug Research
Tailored research solutions for orphan drug development and rare disease registries — combining global patient finding, genetic expertise, and compassionate use program management.
Expertise in Rare Disease Drug Development
With over 7,000 known rare diseases affecting an estimated 300 million people worldwide, and only about 5% having approved treatments, rare disease research represents one of the most important and challenging frontiers in modern medicine. Omega CRO provides comprehensive support for orphan drug development programs, from natural history studies and early-phase trials through to pivotal registrational studies and post-approval registries.
Our integrated approach addresses the unique challenges of rare disease research: small and geographically dispersed patient populations, the need for validated biomarkers and clinical outcome assessments, complex regulatory pathways with orphan drug designation, and the growing role of gene therapies and mRNA-based treatments.
Rare Disease Categories
Our experience and capabilities span the major rare disease categories.
Metabolic & Lysosomal Storage Disorders
- Gaucher Disease
- Fabry Disease
- Mucopolysaccharidoses (MPS I-VII)
- Pompe Disease
Neuromuscular & Neurological
- Spinal Muscular Atrophy (SMA)
- Duchenne Muscular Dystrophy (DMD)
- Amyotrophic Lateral Sclerosis (ALS)
- Huntington's Disease
Hematologic & Immunologic
- Hemophilia A & B (see Hemophilia page)
- Paroxysmal Nocturnal Hemoglobinuria (PNH)
- Primary Immunodeficiencies
- Thalassemia
Rare Pulmonary & Endocrine
- Pulmonary Arterial Hypertension (PAH)
- Idiopathic Pulmonary Fibrosis (IPF)
- Acromegaly & Cushing's Syndrome
- Congenital Adrenal Hyperplasia
Advanced Therapies
- Gene Therapy (AAV-based)
- mRNA Therapeutics
- Enzyme Replacement Therapy (ERT)
- Antisense Oligonucleotides (ASO)
Pediatric Rare Diseases
- Paediatric Investigation Plans (PIP)
- Neonatal and infant studies
- Age-appropriate formulation development
- Pediatric patient advocacy collaboration
Rare Disease Trial Capabilities
Global Patient Finding
Multi-country recruitment strategies leveraging patient registries, advocacy groups, and genetic testing databases to identify eligible patients across dispersed populations.
Natural History Studies
Prospective and retrospective natural history studies to characterize disease progression, inform trial design, and support external control arms.
Regulatory & Orphan Designation
Orphan drug designation (ODD) applications, rare pediatric disease designation, PRIME eligibility, breakthrough therapy, and accelerated approval pathways (FDA, EMA, TİTCK).
Genetic Testing & Biomarkers
Integration with Omega Genetics for confirmatory genetic testing, variant interpretation, pharmacogenomic profiling, and biomarker development for patient stratification.
Decentralized & Home-Based
Home nursing, mobile research teams, telemedicine visits, and wearable monitoring to reduce patient burden for mobility-limited rare disease populations.
Long-Term Registries
Disease and product registries for post-approval safety monitoring, treatment pattern analysis, and natural history data collection through the Omega Biorepository.
Application Scenarios in the Omega Ecosystem
How the Omega ecosystem powers rare disease and orphan drug research\u2014from confirmatory genetic testing to global patient finding and long-term registries.
HelixLab
Enzyme & Biomarker Assays
Dried blood spot (DBS) enzyme activity assays for newborn screening confirmation (GCase, \u03b1-Gal A, IDUA), urinary glycosaminoglycans (GAGs), and disease-specific biomarker panels for lysosomal storage disorders.
Omega Genetics
Whole-Genome Sequencing
WGS/WES for undiagnosed rare diseases, confirmatory testing for known pathogenic variants (GBA, GLA, IDS, SMN1, DMD), and variant interpretation with ACMG/AMP classification for trial eligibility.
Omega Biorepository
Longitudinal Specimen Archive
Multi-decade biobanking of DBS, plasma, and urine samples at -80\u00b0C/LN\u2082 for natural history studies, post-approval safety monitoring, and retrospective biomarker discovery.
Omega Care
Home Sampling for Mobility-Limited
Home-based DBS collection, mobile phlebotomy for pediatric and mobility-limited patients, and remote PRO capture reducing travel burden for rare disease populations.
Omega Bio
DBS Newborn Screening Kits
Kit-based DBS collection and transport standardization enabling decentralized, multi-country sample collection with consistent pre-analytical quality for rare disease registries.
Animal Facility
Knockout Disease Models
Gene-specific knockout and knock-in models (GBA\u207b/\u207b, IDS\u207b/\u207b, SMN\u03947, mdx) for preclinical evaluation of ERT, gene therapy, ASO, and mRNA therapeutics before first-in-human dosing.
Bring New Treatments to Rare Disease Patients
Partner with Omega CRO for integrated orphan drug development expertise from natural history through post-approval.
Talk to Our Experts