Alstrom Syndrome

What is Alstrom Syndrome?
Alström syndrome is a rare complex genetic disorder associated with a wide variety of characteristics, including: vision and hearing abnormalities, obesity in childhood, insulin resistance, diabetes mellitus, heart disease (dilated cardiomyopathy) and slowly progressive kidney dysfunction. More information about Alström syndrome may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases/5787/alstrom-syndrome

What is the prevalence of Alstrom Syndrome?
Approximately 1200 affected individuals affected with Alström syndrome have been identified worldwide.

How is Alstrom Syndrome diagnosed?
Alström syndrome is diagnosed based on clinical findings, medical and family history. Genetic testing is not necessary to make a diagnosis but it can be useful in confirming a diagnosis.

Is there any specific gene/pathway in Alstrom Syndrome that has been identified?
Genetic testing of the ALMS1 gene can be helpful to confirm a diagnosis of Alström syndrome.

How is Alstrom Syndrome treated?
Since symptoms of Alström syndrome vary widely, treatment is directed toward the specific symptoms of each individual. More information on treatment may be found here: https://rarediseases.org/rare-diseases/alstrom-syndrome/

Are there any clinical trials underway for Alstrom Syndrome?
The National Institutes of Health (NIH) has completed 4 clinical trials for Alstrom Syndrome. Currently, there are 2 clinical trials underway for the condition. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/ct2/results?cond=Alstrom+Syndrome&term=&cntry=&state=&city=&dist=&Search=Search

How can RareShare be helpful to Alstrom Syndrome patients and families?
The Alstrom Syndrome community has 1 member. There are currently 0 active discussions underway. New discussions can help to connect patients, health workers, caregivers and families interested in Alstrom Syndrome and provide them continual access to community resources.