People Against Leigh Syndrome (PALS), a Houston-based 501(c)3 dedicated to funding Leigh syndrome research, today announced it will grant a total of 50,000 USD to two research teams that are exploring therapeutic treatments for Leigh syndrome patients.  Leigh syndrome is a pediatric-onset, progressive and fatal neurological disease closely linked to Parkinson's Disease and ALS.

"Since its inception, PALS’ mission has been to support meaningful research of this devastating disease," said Lori Martin, founder and president of PALS and a Leigh syndrome parent.   “Like many families, we have been doing the best we can to keep our children from progressing. Our hope is that this research grant accelerates the timeline to discover viable treatments for children with Leigh syndrome.”

The research projects were identified through PALS’ first-ever Request for Proposals (RFP) seeking independent research that needed funding for the final push to advance a project from the “benchtop to the bedside” with the goal to positively impact patient care in the near future.  The RPF resulted in seven submissions that were narrowed down to two awardees, including:  

‍Institution: Children’s Hospital of Philadelphia (CHOP)

Applicants: Deborah Murdock, PhD, Andrew Chilkatowsky and Kierstin Keller

Project: Harnessing Immunotherapy to Battle Neurodegeneration in Leigh syndrome

Award: 25,000 USD

Description:  

The use of immunotherapy has been revolutionary in harnessing the power of the individual’s immune system to fight cancer. Immune checkpoint inhibitors such as anti-PD-L1 and anti-PD-1 therapies in particular have had remarkable success in treating many types of cancers, and more recently have shown promising results resolving neuroinflammation in neurodegenerative disorders like Leigh syndrome.  This project will test the therapeutic benefit of a PDL1 inhibitor in an established mouse model of Leigh syndrome and access the PDL1 inhibitor’s ability to ameliorate the most common symptoms seen in Leigh syndrome patients.

‍

Institution: Heinrich Heine University (HHU), Dusseldorf, Germany  

Applicant: Alessandro Prigione, MD, PhD  

Project: Drug discovery in patient-derived neurons and brain organoids carrying SURF1 mutations

Award: 25,000 USD

Description:  

This project will use skin cells from patients to generate neurons and “mini-brain” organoids. On these cellular models, the team will test compounds that are already approved for other diseases. Effective drugs will then be suggested to be repositioned for treating Leigh syndrome.  The project will explore SURF1 mutations first, however, the same approach may be applied to other gene mutations causative of Leigh syndrome, potentially opening the way to personalized interventions.  

‍

In addition to the research grants, PALS continues to support TRiaLS: The International Registry for Leigh Syndrome led by Mary Kay Koenig, MD and her team at the UTHealth Mitochondrial Center of Excellence and the Leigh Syndrome International Consortium.

For more information on PALS, visit peopleagainstleighs.org.

‍