Posted - September 2020 in HSPRF News
Invitation to participate in research
KIF1A.ORG https://www.kif1a.org/ is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder and accelerating research to find a cure. SPG30 type HSP is caused by mutations in the KIF1A gene, so if you or a family member have this genetic diagnosis, you are encouraged to participate in this study by emailing: [email protected]
Natural History Study
The Natural History Study is crucial to advance understanding of KIF1A Associated Neurological Disorder (KAND) and the progression of the disease. This study is vital to understanding KAND and swiftly developing strategies for treatment.
Our partner, Chung Lab at Columbia University Medical Center, launched the KIF1A Natural History Study in 2017. As of April 2019, there are approximately 100 families from over 16 countries enrolled in the study, which continues to grow as more individuals with KIF1A-related disorders are identified through genetic testing. It is essential for every KAND family to participate in this study.
A Patient Registry
The Natural History Study is building a registry of patients with confirmed KAND diagnosis. This robust directory of families affected by mutations in KIF1A allows the scientific community to compare cases, discover new phenotypes and re-contact families as new discoveries are made. The Natural History Study on KAND is a systematic collection and analysis of comprehensive, longitudinal data collected from families diagnosed with KAND.
The goal is to compile comprehensive medical data from each individual and expand the study over time, allowing researchers to compare pre- and post-treatment results on an individual basis.