Dup15q Syndrome
UNC is 1 of 6 sites in the first Dup15q Natural History Study.
Recruitment starts soon, so please check back for updates.
Learn more at the Dup15q Alliance: https://dup15q.org/.
Check out this announcement from the Alliance:
When a company becomes interested in developing a drug for a rare disease, that company needs to know how that rare disease generally presents itself over the course of an individual’s lifetime. That “natural history” gives the drug company an idea of what symptoms could be alleviated and the optimal therapeutic intervention window. A natural history study is designed to track measurable data (blood biomarkers, behavioral questionnaire scores, seizures) over time as individuals develop. Without a natural history study, many drug companies are hesitant to develop or advance therapeutics in rare diseases.
To date, Dup15q syndrome does not have a longitudinal natural history study. Longitudinal means that we are tracking each patient over many years, sometimes for a lifetime! We have a wonderful cross-sectional study being performed with our Children’s Hospital Los Angeles team as part of their SOAR study, where they are tracking individuals over many age groups during a full year. Additionally, our collaboration with Citizen Health is an attempt to collect long-term electronic health data on each patient from physician visits. By stringing together repeated measurements from patients at different ages, we can begin to assemble a semi-longitudinal study to understand Dup15q syndrome progression over time. Both the SOAR study and Citizen Health’s registry support each other and a hopeful future longitudinal natural history study of Dup15q syndrome.
We at the Alliance are making efforts to develop a longitudinal natural history study for Dup15q syndrome. The study would complement the existing studies and focus on measurements that are important for drug companies interested in studying Dup15q syndrome.