Orphan and Rare Disease Research

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.

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.

Our recent acquisition of Orphan Reach, a rare CRO, helps to establish us as an industry leader in clinical research for orphan and rare diseases. Orphan Reach has an outstanding reputation, with experience in 60 rare disease clinical trials and over 50 biopharma clients throughout the world.

About Emmes

The challenges of delivering clinical trials within the rare disease community are unique. A CRO delivering this service must have a strong track record, understanding of the environment that the trial is working within, and the skills to manage problems proactively and with efficiency. A successful trial is built upon the quality of the relationships, agile nature of delivery and knowledge of the ecosystem involved. It is therefore essential for each of our rare disease focused team members to have experience and understanding of delivering research in the rare disease community environment, so that issues can be predicted, proactively overcome, and any unforeseen circumstances can be handled promptly when they arise.

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 contribute and be at the forefront of groundbreaking research for these small, yet collectively large populations, to increase the treatments available within the rare disease space.

About Emmes

Our dedicated, global rare disease focused CRO, Orphan Reach will enable us to achieve this, through several optimized approaches.

An optimized orphan strategy will enable you to effectively navigate the orphan drug regulatory landscape with more in-depth insight and experience. Defining a clear direction from the outset by harnessing the experience of our expert rare disease team, will advance your clinical trial regulatory process.

Our teams are highly experienced to advise our clients in the following areas:

  • Regulatory Strategy Planning
  • Orphan Designation Applications
  • Break Through Designation Applications
  • Orphan drug designation
  • Pediatric Priority Review Vouchers
  • FDA and EMA Meeting Preparation and Representation
  • Patient Advocacy Group strategic planning

Our services are tailored to accommodate clinical trials globally involving small patient numbers and to deal with the particular medical, scientific, clinical and commercial challenges within the rare disease domain.

Orphan Reach, Emmes’ rare CRO, employs a full service offering. There are clear advantages in small patient populations when using this type of offering coupled with our agile approach to both patient and customer needs. Our service delivery approach enables us to provide:

  • Global access to local resources in excess of 100 countries as individually needed
  • Operational hubs in Europe, US and Asia Pacific which form the operational backbone and drive project delivery
  • Expert insight from highly experienced rare disease focused teams, who are able to tailor their approach to project delivery on a case by case basis

We foster close relationships with key opinion leaders, to ascertain real-life experience and involve them very early in the development program. We train and educate investigators and lead initiatives to improve disease awareness. We link with patient advocacy groups and obtain valuable input from patients themselves. We establish a patient recruitment plan and explore patient registries and referral sites. We proactively collaborate with health authorities early in the development program.

We nurture excellent global contacts with Clinical Research Networks and indication specific Investigator Networks. We also engage referral sites, pre-identify patients at sites and use relationship marketing experts. Combining the various measures in an effective way helps us to meet or exceed patient inclusion timelines.

With fewer patients in rare disease trials, the integrity and completeness of data from each patient assumes even greater importance. We employ many methods, including the following to retain patients and maintain compliance:

  • Focused training of sites and patients is provided to increase retention and compliance supported by experienced Senior Clinical Research Associates at a site level.
  • Engaging patient advocacy groups
  • Providing home healthcare by trained nurses
  • Patient travel logistics support

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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