Rare Diseases

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.

About Emmes

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.

About Emmes

A Sample of Emmes’ Experience
in Rare Diseases

Category/DisorderIndications
Ophthalmologic Rare diseases including inherited retinal diseasesABCA4 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 cancersSickle Cell disease, Aplastic Anemia, Acute Myeloid Leukemia, Multiple Myeloma, Myelodysplastic syndromes, Bone Marrow Failure syndromes
Infectious DiseasesYellow Fever, Smallpox, Anthrax, Tularemia, Severe Acute Respiratory syndrome (SARS), Cytomegalovirus Infection, Neonatal Herpes (HSV)
Immune System/Immune DeficiencyHemophagocytic Lymphohistiocytosis (HLH), Primary Immunodeficiency (PID), acute Graft-versus-Host Disease (aGVHD), Chronic GVHD, Steroid Refractory aGVHD
OncologyAIDS-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
AutoimmuneUlcerative Colitis, Primary Sclerosing Cholangitis
NeurologyStatus epilepticus, Spasticity associated w/ Cerebral Palsy
Lysosomal Storage DisordersFabry disease, Mucopolysaccharidosis II (MPS II or Hunter Syndrome), Niemann-Pick Type C, Cystinosis
Other Rare diseases/disordersBronchopulmonary Dysplasia (BPD), Limb-Girdle Muscular Dystrophies, Apnea of Prematurity
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