For Researchers
Driving Discovery, Advancing Hope.
ASI holds the largest collection of essential information about children and adults with Alström Syndrome, with data about more than 900 individuals.
About Alström Research
Through global collaboration with leading scientists and medical centers, we support research that deepens understanding of Alström Syndrome and accelerates progress toward improved treatments — and ultimately, a cure.
Research with Purpose.
Our Current Research
Check out the research we are currently doing and get in touch to join the research team.
Get in Touch
If you are treating a patient with Alström Syndrome and wish to participate in our ongoing research efforts, please contact:
Research in Action
Ongoing studies around the world are deepening our understanding of Alström Syndrome —exploring its genetic causes, clinical features, and potential treatments to improve quality of life for those affected.
Semaglutide in Alström Syndrome: An Improvement in the Natural Course of Cardiomyopathy
This recent case study from Spain looked at a young man with Alström Syndrome who had serious heart problems (cardiomyopathy) as a baby—something common in ALMS. His heart function seemed to recover in early childhood, but like many with Alström, he faced rising risks again as a young adult, especially due to obesity and related health factors.
After starting semaglutide (a medication often used for weight loss and diabetes), not only did his lab values across the board improve—but his weight dropped, lipid values decreased, A1C dropped to the normal range, and liver function test numbers improved significantly!!
This suggests that semaglutide might be helpful not just for weight, but also in protecting not only the heart, but many parts of the body in people with Alström!
It's an encouraging step—and a great example of how treating one part of the syndrome (like obesity) might help others (like the heart).
Read more about Dr. Ortigado's research HERE!
Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model
A 2024 study from the UK is helping us better understand how the ALMS1 protein affects the heart—especially in infants with Alström Syndrome.
Researchers found that issues with calcium movement in heart cells may play a role in cardiomyopathy.
This model also highlights metabolic challenges in Alström and could lead to future treatments. Hope is on the horizon!
Read more on this research HERE!
Tools & Resources
Check out our tools and resources for researchers in the field.
Research Institutions & Medical Centers
We are honored to work alongside exceptional medical and research partners around the world who share our commitment to supporting families and driving innovation in Alström Syndrome care.
Dive into our growing library of research references to learn more about the genetics, mechanisms, and clinical features of Alström Syndrome.