Rare Disease Day
Established on February 29, 2008 and celebrated annually around the globe (on February 28th on non-Leap years) Geneial is grateful to join in the commemoration of Rare Disease Day. While the names of specific disorders are sometimes tricky and might not ring a bell for everyone, we all likely know families dealing with rare genetic conditions.
Families typically spend 6 to 8 years navigating the diagnostic journey for rare diseases, and even after receiving a diagnosis, a majority lack treatment options, with only approximately half having access to a support group.
By the numbers:
1 in 10 individuals is affected by rare diseases.
1 in 2 rare diseases lacks a support group.
1 in 2 patients diagnosed is a child.
On average, 6 to 8 years are required for a diagnosis.
8 in 10 rare diseases are caused by faulty genes.
95% of rare diseases lack FDA-approved treatments.
There are over 7,000 known rare disorders and counting.
Despite these challenges, progress is evident. Support and Advocacy groups for Rare Disease groups are growing in size and number, contributing to increased education, awareness, and support for affected families. Simultaneously, technological advancements are enhancing our understanding of genetic diseases, with promising developments on the horizon for drug repurposing and cell and gene therapy.
Many rare diseases, with only one to two hundred known cases, have insufficient populations for randomized trials. In a significant development in October 2023, FDA officials underscored the importance of natural history studies for orphan drug approval, utilizing real-world evidence and natural history studies to transform rare disease drug development.
The rise of importance of Natural History Studies
In 2023, two landmark drug approvals exemplified this transformative approach:
Friedreich’s ataxia, a neurodegenerative disease, witnessed its first FDA-approved therapy, backed by a natural history study providing confirmation of disease progression.
Rett syndrome, a childhood disorder, celebrated its first FDA-approved treatment, supported by real-world data on disease progression and patient-reported outcomes.
These successes signify a paradigm shift in rare disease drug development, with the FDA recognizing the invaluable patient-centric data gleaned from registries.
Geneial’s Contributions
Enter Geneial, a cutting-edge registry platform designed to empower researchers, clinicians, patients, and families. Our user-friendly platform facilitates seamless data collection for Natural History Studies, including Patient-Reported Outcomes (PROs), through a mobile app. We ensure data quality and security through advanced data management systems and compliance with regulatory standards. Collaboration is simplified, fostering an open exchange of data and knowledge among researchers, clinicians, and patient advocacy groups. Additionally, our platform empowers patients with educational resources, support groups, and communication tools, enhancing their involvement in care and research.
Contact Geneial today to explore how our registry platform can elevate and support your rare disease registry. Together, we advance understanding, advocacy, and care for those affected by rare diseases.