What is the current panorama of Clinical Research on Lupus?

We are talking about a disease that affects 5 million people across the globe, 90% of them women. A chronic autoimmune disease in which a Patient's immune system attacks the healthy tissues in their own body, causing inflammation and pain. In extreme cases, complications can be fatal.

Current treatments are predominantly immunosuppressants that reduce the immune system to relieve symptoms. But often leave Patients more susceptible to infection and can also lower their quality of life.

Nowadays, with more than 800 active Lupus Clinical Trials worldwide, its causes remain poorly understood, and a cure has not yet been found.

But something has changed recently. April 2022 opened new ways for Scientific Research.

An international collaboration of the Center for Personalized Immunology (CPI) of the Australian National University (ANU), researchers from the Department of Pediatrics of the Faculty of Medicine of the Autonomous University of Madrid (UAM), and the Niño Jesús University Children's Hospital (Madrid),  has allowed identifying a gene called TLR7 that, when over-activated, is responsible for causing Lupus. 

This discovery could pave the way for new effective treatments for Lupus.

What has this scientific Research consisted of?

Through The Centre for Personalised Immunology (CPI) , a team led by institutions from Australia and China performed whole-genome sequencing of the DNA of a young Spanish woman named Gabriela, diagnosed with severe Lupus when she was seven years old.

To confirm that the mutation causes Lupus, scientists used CRISPR Cas9 gene-editing technology.

"Although only a small number of people with Lupus may have variants in TLR7 itself, we know that many patients show signs of hyperactivity in the TLR7 pathway. Confirming a causal relationship between the gene mutation and the disease, we can start looking for more effective treatments." Nan Shen, co-author of the study.

The identified mutation causes the TLR7 protein to bind more easily to a nucleic acid component called guanosine and become more active. The authors note that that increases the immune cell's sensitivity, making it more likely to incorrectly identify healthy tissue as foreign or damaged and mount an attack against it.

A disease more common in women

This research may also help explain why Lupus is about ten times more common in women than men. Since TLR7 is located on the X chromosome, females have two copies of the gene, while males have one.

Females normally have one of the X chromosomes inactive, but the silencing of the second copy is usually incomplete on this section of the chromosome. That would explain that women with a mutation in this gene can have two functional copies.

Develop new Clinical Trials for other autoimmune disease treatments.

The researchers are now working with pharmaceutical companies to explore developing or repurposing existing therapies targeting the TLR7 gene. And they hope that treating this gene could also help patients with related diseases.

"There are other systemic autoimmune diseases, such as rheumatoid arthritis and dermatomyositis, that fit into the same general family as lupus. TLR7 may also play a role in these diseases." Commented the researcher in an interview granted to the media.

Carola Vinuesa's complete scientific essay here, "TLR7 gain-of-function genetic variation causes human lupus".

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We know that finding effective treatments for this chronic autoimmune disease is challenging.

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