The Cute Syndrome Foundation (CSF) is a non-profit 501(c)(3) organization dedicated to accelerating the development of treatments and a cure for CDKL5 deficiency disorder (CDD), a rare X-linked neurodevelopmental epilepsy. Founded by parents of children diagnosed with CDKL5 variants, the foundation has become the primary patient advocacy organization for the CDKL5 community, funding critical research, supporting clinical trials, and connecting families with the scientific and medical communities.
To drive the development of effective treatments and ultimately a cure for CDKL5 deficiency disorder by funding innovative research, facilitating clinical trials, providing family support, and advocating for regulatory policies that accelerate therapy development for CDKL5 and related epilepsies.
The foundation was established in 2012 by parents whose children were diagnosed with what was then poorly understood as "atypical Rett syndrome" or early-onset infantile spasms. Recognizing the need for CDKL5-specific research, they founded Cute Syndrome Foundation to unify the community and drive scientific progress.
The foundation serves as the primary non-governmental funder of CDKL5-specific research:
- Annual research grants: Competitive grant program supporting basic science, translational, and clinical research on CDKL5 deficiency. Priority areas include gene therapy, ASO development, small molecule modulators, and biomarker identification.
- Natural history study support: Funding and patient recruitment for CDKL5 natural history registries. The foundation has supported the RDCRN (Rare Disease Clinical Research Network) CDKL5 cohort.
- Preclinical consortium: Collaborative programs sharing data, animal models, and resources across academic labs working on CDKL5.
- International CDKL5 Research Consortia: Partnership with international research networks to coordinate global CDKL5 research efforts.
The foundation plays a critical role in connecting patients with clinical trials:
- Trial matching: Direct patient-to-trial referrals through the foundation's patient registry
- Site identification: Working with companies to identify suitable clinical trial sites with CDKL5 expertise
- Patient education: Webinars, conferences, and educational materials about trial eligibility, risks, and expectations
- Industry partnerships: Facilitating partnerships between academia and industry for CDKL5 therapy development
- Clinical trial site capacity: Supporting the development of clinical trial infrastructure at CDKL5 centers of excellence
¶ Patient and Family Support
- Family conference: Annual family conference bringing together patients, families, researchers, and industry representatives
- Family support programs: Emergency funds, equipment assistance, and family connection programs
- Registry: Patient registry with genetic data, clinical information, and longitudinal follow-up enabling research recruitment
- Facebook community: Active online community connecting families for peer support and information sharing
- Regional family meetups: Local gatherings for families to connect and share experiences
The foundation engages with regulatory agencies to advocate for patient-centered therapy development:
- FDA engagement: Participation in FDA patient-focused drug development meetings
- Orphan drug designation support: Advocacy for orphan drug designations for CDKL5 therapies
- Rare disease policy: Working with coalitions to advocate for policies that accelerate rare disease therapy development
- Funded over $5M in CDKL5 research since 2012
- Established the CDKL5 Patient Registry with >500 registered patients
- Supported 3 clinical trials for CDKL5 therapies through patient recruitment and site development
- Founded the International CDKL5 Research Consortium coordinating research across 15+ academic centers
- Successfully advocated for orphan drug designation for multiple CDKL5 therapies
- Vigonvita Sciences: CDKL5 gene therapy program
- Various pharmaceutical companies developing CDKL5 therapies
- Boston Children's Hospital (Dr. Wheeler, Dr. Sahin)
- University of Washington
- Children's Hospital of Philadelphia
- Multiple international academic centers
- Rare Disease Clinical Research Network (RDCRN)
- International Rare Disease Research Consortium (IRDiRC)
Annual conference bringing together families, researchers, clinicians, and industry representatives. Features:
- Scientific sessions with leading CDKL5 researchers
- Clinical trial updates from company partners
- Family networking and support sessions
- Caregiver workshops and resources
Annual awareness event (held in conjunction with Rare Disease Day) to raise public awareness and educate about CDKL5 deficiency.
- Patient registry: CDKL5 Registry
- Clinical trial information: Clinical Trials Page
- Family resources: Educational materials, seizure action plans, and care guides
- Family support programs: Emergency assistance, equipment loans
As a 501(c)(3) non-profit, the foundation relies on donations and grants:
- Individual donations and family fundraising
- Corporate sponsorships from pharmaceutical partners
- Foundation grants from rare disease organizations
- Annual fundraising events
- Cute Syndrome Foundation Official Website
- CDKL5 Patient Registry
- CDKL5 Clinical Trials