Rare Disease Clinical Trials Have Adapted and Progressed During 2020

Rare Disease Day each year on February 28th provides a time for the rare disease community to reflect on the progress of the year, the continued gaps in rare disease care, and the hopes for the future of rare disease research.

The pandemic certainly impacted how research was conducted in 2020, but it didn’t in any way slow it down.

Here are some of the rare disease research companies who have adapted and continued research during the pandemic.


Rezolute Inc. works specifically with metabolic diseases and rare diseases. The company was just starting a Phase 2b study for congenital hyperinsulinism (HI) when the pandemic began. HI is a rare pediatric condition that leads to an overproduction of insulin in the body. When the condition isn’t treated, it can lead to neurological complications from episodes of dangerously low blood sugar. These can include developmental disabilities, seizures, brain damage, and more.

Rezolute Inc. is has developed RZ358 which helps to control how much insulin is able to enter and leave cells.

The team has tried to encourage limiting in person visits during this time, while doing all that they can to ensure patients retrieve treatment as travel is difficult. Additionally, they are working to develop ways to modify the treatment schedule which would reduce the number of days needed in the hospital.

GM1 Gangliosidosis

Sio Gene Therapies works to develop therapies for neurodegenerative diseases including GM1 gangliosidosis and Tay-Sachs disease. Sio works closely with patient organizations to understand what their priorities are for treatment and logistics behind clinical trials. These relationships have been particularly valuable this year.

For example, one family living in Sweden who had 3 children with GM1 was almost unable to travel to enroll in the clinical trial due to the pandemic. Less than 24 hours prior to when a travel ban was enacted, the company was able to get the family on a flight.

Additionally, the team helped enroll a GM2 patient in a trial for the gene therapy AXO-AAVV-GM2. The trial had been on hold due to incompletion of a few assays. The team collaborated internationally in order to lift the hold and get the trial started again during the pandemic.

Primary Immunodeficiencies

X4 Pharmaceuticals works to develop therapies for primary immunodeficiency (PI) as well as some cancers. They are currently working on developing a therapy which will be an antagonist to CXCR4. Mutations in CXCR4 cause WHIM syndrome, a rare condition which impacts white blood cells. This company’s therapy helps allow these white blood cells to properly do their job.

X4 has hired a new VP of Patient Affairs and Advocacy who is not only experienced in the field, but also a rare disease patient herself. Michele Rhee was first diagnosed with cancer when she was just 20 years old and a rare condition by age 21.

Michele instantly got to work in this new position. The company created a survey which aimed to uncover what patients need most during the age of the COVID-19 pandemic. In addition, the survey asked questions regarding comfort level joining clinical trials during this time.

Ingenuities in telemedicine for both trials and standard care, has been one of the benefits that has come from this tragedy. It’s been a challenge, but a good one. The changes implemented this year can prove useful for years to come.

You can read more about these updates on rare disease research in the year of 2020 here.

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