Rare disease research during the COVID-19 era
Over 400 million people worldwide are affected by a rare disease, including celebrities who have discussed their struggles with rare disorders. The road to diagnosing and treating people with a rare disease is never easy. Finding an accurate diagnosis can take up to 8 years or more – decades to be precise. Of the people globally affected with rare diseases, only about 5% have an approved treatment. With the global COVID-19 pandemic taking the front seat in everyone’s lives, how are rare disease patients and researchers impacted?
The effect on patients
In 2020, the Rare Diseases Clinical Research Network (RDCRN) surveyed 3,413 people living with a rare disease and their caregivers in the US to see the impact that COVID had on the patient community. Only 71 respondents confirmed they contracted COVID-19 with mild symptoms. Most were unsure of their exposure to the virus. About 40% of respondents indicated that access to care was another area of concern. Only a handful of patients were able to get an appointment with a medical provider or were transferred to telehealth communications (2). The survey gives a preliminary look at how the patient population in the US has been affected. The RDCRN is currently conducting a follow-up survey to measure the continued impact of the pandemic on rare disease patients.
In a report by Chowdhury et al. (1), patients worldwide living with rare diseases faced limited medical resources and a higher risk of complications if they visited a medical office or hospital for treatment. A survey from the Rare Disease Ireland recorded 53% of patients canceling treatments, putting themselves at a potential short and long-term risk (1). In addition to losing access to scheduled medical care, patients living with rare diseases often have co-morbidities that make contracting COVID-19 even more dangerous.
In another study focused on the Asia-Pacific region, Chung et al. reported issues relating to funding in organizations that support rare disease patients. Moreover, the report revealed 63% of the organizations are operating at a reduced capacity and 43% of patients are suffering from reduced access to healthcare (3).
The effect on rare-disease research
There are many hurdles when studying rare diseases. Limited funding and resources, developing a sizable cohort and working collaboratively with international research partners can complicate researchers efforts in studying rare diseases (1). Some of these challenges have only magnified since the beginning of the pandemic. Many research experiments and clinical trials have stalled or de-prioritized to cover COVID-19 related research. Over 80% of non-COVID-19 trials have been delayed. The investigators working in these clinical trials have been reassigned to support COVID-19 research work. As new COVID variants emerge, more and more resources are being re-allocated for COVID research. These issues strain the already vulnerable population affected by rare diseases, 50% of which are children.
Ongoing efforts despite Covid-19
Despite Covid-19, there are still global efforts to find answers and treatments for the million people living with rare diseases.
In October 2021, the FNIH launched the AMP Bespoke Gene Therapy Consortium (BGTC) to develop gene therapies tailored for rare diseases. BGTC aims to eradicate existing roadbloack relating to rare disease research, overcome manufacturing roadblocks and streamline regulatory requirements.
A recent report 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care, with 4660 participants, including rare disease patients and their families, showcased how whole genome sequencing could improve rare disease diagnostics and treatment. The study found that genome sequencing provided a genetic diagnosis in 25% of probands and has given patients and their families the ability to change treatments, undergo testing for relatives potentially at risk, and participate in clinical trials.
The Cukurova University Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM) aims to advance the care and treatment of people living with rare genetic diseases. As the region’s largest genetic testing laboratory, AGENTEM processes samples from multiple locations. Samples come from nearby institutions and hospitals but also other countries. Dr. Atil Bisgin and his team receive up to 100 samples each day. Read more about Dr. Bisgin’s work here.
Biomarker status has also been vital in determining disease prognosis and treatment options. A recent study looked at miRNA biomarkers in amyotrophic lateral sclerosis (ALS), a rare neurodegenerative disorder marked by muscle weakness and has a highly variable rate of progression between patients (7). Dr. Magen’s research focuses on identifying predictive biomarkers that are better predictors of disease progression and assist in clinical trials (7). The team identified plasma miRNA miR-181 as a predictive biomarker of ALS progression. In addition, the team discovered that a combined miR-181 and neurofilament light chain (NfL) biomarker could potentially enhance patient stratification in clinical trials (7).
QIAGEN recently hosted the Virtual Rare Disease Summit, where global experts discussed rare disease research topics, including the 100,000 Genomes Project, exome sequencing and transcriptomics in rare diseases.
Check out our summit highlights here
To learn more about genomic technologies, visit the NGS resource center.
Links:
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8082070/
- https://www.rarediseasesnetwork.org/news/2021-02-10-COVID19-survey-preliminary-results
- https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01766-9
- https://www.nejm.org/doi/full/10.1056/NEJMoa2035790
- https://www.nih.gov/research-training/accelerating-medicines-partnership-amp/bespoke-gene-therapy-consortium
- https://www.rarediseasesnetwork.org/follow-up-covid-impacts-survey
- https://www.nature.com/articles/s41593-021-00936-z