Updates from the Director of Scientific & Clinical Initiatives
March 2026
The last week of February is Rare Disease Week, culminating in Rare Disease Day on February 28th. This year, the FDA released a framework for consideration on Accelerating Development for Rare Diseases. This framework is reason for optimism because it signals a more flexible, supportive pathway for developing treatments tailored to rare disease populations. Large clinical trials are not possible in rare disease, so the FDA is emphasizing the use of Natural History Study data and other strategies to evaluate safety and potential benefit in clinical trials without huge sample sizes. This could make it easier and faster for researchers and companies to move promising genetic therapies forward in the future. While this framework is still draft guidance (not finalized or approved), there is hope that the FDA could be open to more flexible clinical trial design in the future.
-Dylan Ritter
LEARN
Natural History Study
When a company becomes interested in developing a drug for a rare disease, that company needs to know how that rare disease appears 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 like Dup15q syndrome.
To date, Dup15q syndrome does not have a published longitudinal natural history study. Longitudinal means that we are tracking each patient over many visits, sometimes over the course of years! We have the first steps of a Natural History Study being performed with our Children’s Hospital Los Angeles team as part of their SOAR study, where they are tracking individuals with Dup15q syndrome over 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 our ongoing efforts to develop a full-scale longitudinal Natural History Study in Dup15q syndrome.
We at the Alliance have been making efforts to develop a longitudinal natural history study for Dup15q syndrome for years. The study would complement the existing studies and focus on measurements that are important for drug companies interested in studying Dup15q syndrome. We are working with our partners and clinical sites to coordinate details, and we will be sure to share updates for participation when those become available!
TREAT
ICD-10 Code Update
We at the Alliance have been applying for an ICD-10 code for Dup15q syndrome for over one year. ICD-10 codes are a standardized system used globally by healthcare systems to classify diagnoses, symptoms, and procedures. ICD-10 codes can be used by researchers at the population level to track where patients are being treated, and their healthcare outcomes. Having an ICD-10 code can help understand the mortality and morbidity of disorders, improve patient standards of care, and enable clinical trials.
However, due to administrative cutbacks at the CDC, there is a freeze on accepting new ICD-10 proposals for genetic conditions, including Dup15q syndrome. The freeze will be in effect until the CDC puts new organizing principles in place for processing applications and assigning codes. We are working closely with COMBINEDBrain, an advocacy group for rare neurological disorders who is acting as our representative and is working with the CDC to create these organizing principles. We hope that we can help create a more streamlined application system together and a better ICD-10 structure to support new code applications by next year!
CURE
#startsmall
On Rare Disease Day, we were fortunate to be able to announce a $5,000,000 grant from Jack Dorsey’s philanthropic #startsmall initiative to advance development of a therapeutic treatment for Dup15q syndrome in collaboration with Kicho, Inc. This support advances Kicho’s core therapeutic program toward a clinical trial using an antisense oligonucleotide (ASO), a genetic therapy designed to address the underlying biology of Dup15q syndrome.
We are deeply grateful to #startsmall for recognizing the urgency and potential of Kicho’s work and for believing in a future where people with Dup15q syndrome have access to meaningful treatments. We are also deeply grateful to Sam Quigley, CEO of Kicho, who has been an instrumental member of our community. Sam’s commitment to both science and our families has driven this work forward.
This level of funding is an incredible help to financially support Kicho’s goal of reaching clinical trials. Bringing a therapy to the clinic requires continued engagement from families who will play a critical role by contributing to research, natural history studies, and clinical trials. Participating in the Dup15q Natural History Study (when it begins) will be a fantastic way to contribute to helping Kicho (and programs like it) reach clinical trials.
GALA UPDATE
The Dup15q Alliance’s Believe in a Cure Gala took place earlier in March in Philadelphia! Thanks to the support of our community, we were able to raise over $227,000 for Dup15q science and research initiatives! Thank you to all those who attended and supported our fundraising efforts. With your generosity, we can advance programs with our clinics, researchers, and pharmaceutical partners!
