The association aims to:
- Support individuals affected by a mutation in the KAT6B gene and their families
- Promote the recognition of this rare disease among medical and public authorities
- Advocate for the recognition of the rights of individuals affected by the KAT6B mutation with competent authorities and society, ensuring they receive fair treatment and access to necessary healthcare
- Defend the interests and rights of individuals affected by KAT6B by advocating for the improvement of public policies and healthcare services
- Promote and financially support medical research on the syndrome related to the KAT6B gene
- Network families, healthcare professionals, researchers, and concerned institutions
- Organize informational events, awareness campaigns, fundraising, or support activities
- Collaborate with national and international associations pursuing similar goals