Orphan & Rare Disease

A dedicated division for the advancement of rare disease research and specialized clinical trial design.

With approximately 7,000 rare diseases affecting 300 million people worldwide, clinical trial research in rare diseases continues to be a top priority for BioFicher 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.

BioFicher 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 biostatistics, biomedical data science & bioinformatics and adaptive/alternative study designs has enabled BioFicher’s clients to conduct even the most challenging rare disease studies.

The challenges of delivering clinical trials within the rare disease community are unique. A CRO offering this service must have a strong track record, understanding of the environment that the trial is working within, and the skills to manage problems with efficiency, so that any unforeseen circumstances can be handled promptly when they arise. A successful trial is built upon the quality of the relationships, agile nature of delivery and knowledge of the ecosystem involved. Our global presence and dedicated staff allow for us to tailor protocols for even the rarest clinical trials. It is 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 and proactively overcome.

We strive 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. Our dedicated division, 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 in rare diseases 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 Disease Center, employs a full, end to end service organization. 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 across Canada, US, Europe and India 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 clinical 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

As part of Bioficher’s Rare Disease Center, Reach Catalyst Clinical was acquired in 2022. Always starting from the patient’s perspective, Reach Catalyst Clinical takes new approaches to clinical studies that help build a better understanding of rare disease progression and treatment. Whether you’re preclinical or post-marketing, together, we design and run rigorous decentralized and hybrid studies designed to address the needs of regulators, payers and patients. We focus on getting to the truth of a disorder and adapting or developing the tools necessary to truly understand disease progression and treatment benefits. The combination of BioFicher and Reach Catalyst provides clients access to full-service protocol design, strategy and trial execution services, not only for rare diseases, but also for a variety of myopathies and neurological conditions.

A Sample of BioFicher’s Experience in Rare Disease

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)

Autoimmune

Ulcerative Colitis, Primary Sclerosing Cholangitis

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

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

Orphan & Rare Disease

Orphan Strategy

Clinical Development Delivery

Patient Recruitment

Patient Retention

Patient Perspective

A Sample of BioFicher’s Experience in Rare Disease

Ophthalmologic Rare diseases including inherited retinal diseases

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