#ScienceSaturday posts share relevant and exciting scientific news with the KAND community, and are compiled by Alejandro Doval. Alejandro is from Spain and serves as Team Leader of the KIF1A.ORG parent-led Research Engagement Team. Send news suggestions to our team at email@example.com.
In case you missed our announcement, KIF1A.ORG is one of 30 patient-led rare disease organizations chosen to join the Rare As One Project, launched by the Chan Zuckerberg Initiative (CZI) to help rare disease communities accelerate research and drive progress against rare disease. Read Monday’s blog post to learn more about how we’ll utilize this $450,000 grant to expand and engage the global KIF1A research network.
You can learn more about Rare As One in this piece from STAT.
Recent KIF1A-Related Research
Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying KIF1A c.773C>T missense mutation
A team from Shandong University in China reports on their development of induced pluripotent stem cells (iPSCs) derived from a KIF1A patient with a p.T258M mutation.
iPSCs are important tools for modeling disease and testing potential therapeutics. Check out our Path to Treatment to learn more about how our research team at Chung Lab creates these and other preclinical tools for therapeutic development.
Bonus: Learn More About iPSCs
In this video from the NIH’s National Center for Advancing Translational Sciences (NCATS), learn about how iPSCs are made and their use in therapeutic development.
Rare Disease News
Translarna Results in a Preserved Ability to Walk in Those with Duchenne Muscular Dystrophy
“Results of this analysis saw that those who were treated with Translarna were able to walk independently for 3.5 years longer than those who only received the standard of care.
The study found that those taking Translarna were better able to complete everyday tasks, such as walking up the stairs, standing up from lying down, and other movements. Not only were these observations found, but researchers also discovered that pulmonary function was improved through the use of Translarna.”
Zogenix Announces Positive Top-line Results from Global Pivotal Phase 3 Trial of FINTEPLA® for the Treatment of Lennox-Gastaut Syndrome
“‘LGS is a rare and severe form of epilepsy where nearly all patients have highly treatment resistant and lifelong seizures. As a result, the frequent falls and injuries, and also the cognitive impairment, limit the quality of life for patients and caregivers, even with current treatment options,’ said Associate Professor Kelly Knupp, M.D., MSCS, FAES of Children’s Hospital Colorado, Principal Investigator for Study 1601. ‘The results observed in this placebo-controlled study are indicative of the potential of fenfluramine to treat patients with refractory LGS. If approved, FINTEPLA could represent an important new treatment option for these patients and their families in need.’”