With approximately 7,000 rare diseases affecting 300 million people worldwide, clinical trial research in rare diseases continues to be a top priority for Emmes and many of our clients.
Currently only 5% of rare diseases have an approved treatment even though the number of FDA orphan drug and biologic approvals has grown exponentially since passage of the Orphan Drug Act. Emmes strives to meet this recognizable need and be at the forefront of groundbreaking research for these small, yet collectively large populations.
Rare disease studies are challenged by small sample sizes, sparse and geographically remote patient populations, difficulty in diagnosis, and preponderance of diseases with a genetic etiology.
Emmes has a long history supporting global research in cell and gene therapies as well as rare diseases across a wide array of therapeutic areas. Expertise in bioinformatics and adaptive/alternative study designs has enabled Emmes’ clients to conduct even the most challenging rare disease studies.
A Sample of Emmes’ Experience
in Rare Diseases
|Ophthalmologic Rare diseases including inherited retinal diseases||ABCA4 Retinopathy, Stargardt’s disease, Usher syndrome, Xlinked Juvenile Retinoschisis, Macular Telangiectasia Type 2, Retinitis Pigmentosa, Leber Congenital Amaurosis (LCA), Albinism, Best’s disease, Uveal Coloboma, Spinocerebellar Ataxia Type 7 (SCA7), Von Hippel Lindau, Behcet’s syndrome|
|Blood Disorders including some blood cancers||Sickle Cell disease, Aplastic Anemia, Acute Myeloid Leukemia, Multiple Myeloma, Myelodysplastic syndromes, Bone Marrow Failure syndromes|
|Infectious Diseases||Yellow Fever, Smallpox, Anthrax, Tularemia, Severe Acute Respiratory syndrome (SARS), Cytomegalovirus Infection, Neonatal Herpes (HSV)|
|Immune System/Immune Deficiency||Hemophagocytic Lymphohistiocytosis (HLH), Primary Immunodeficiency (PID), acute Graft-versus-Host Disease (aGVHD), Chronic GVHD, Steroid Refractory aGVHD|
|Oncology||AIDS-related lymphoma (e.g., Hodgkin and non-Hodgkin, Plasmablastic lymphoma (PBL), Burkitt’s lymphoma, Primary effusion lymphoma), Kaposi sarcoma, Anal cancer, Diffuse large B-cell lymphoma (DLBCL), T-Cell Lymphoma, other various rare leukemias/lymphomas|
|Autoimmune||Ulcerative Colitis, Primary Sclerosing Cholangitis|
|Neurology||Status epilepticus, Spasticity associated w/ Cerebral Palsy|
|Lysosomal Storage Disorders||Fabry disease, Mucopolysaccharidosis II (MPS II or Hunter Syndrome), Niemann-Pick Type C, Cystinosis|
|Other Rare diseases/disorders||Bronchopulmonary Dysplasia (BPD), Limb-Girdle Muscular Dystrophies, Apnea of Prematurity|