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Benefits

Knowing the health risks can improve the quality of care and life expectancy (e.g. Wilms tumor surveillance improves survival)

Proven strategies can prevent hospitalizations (e.g. use of Hygiene seat may decrease UTIs; Stander/upright seated devices improve mobility and respiratory issues; cyclic vomiting medications reduce hospital admissions)

Etiology of death may extend lives (e.g. causes of respiratory issues, cardiac arrhythmias, seizures management, infections and ways to prevent these complications)

Non-verbal children can learn ways to communicate their basic needs and pains (e.g. augmentive communication) which can lessen the behavioral issues that impact care

Parents can obtain some peace of mind with more knowledge and better advocate for their children


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Vision

Create ASXL Centers of Excellence (CoE) 

  • Designate elected hospitals and specialists around the world that demonstrate exemplary care for ASXL patients
  • Provide travel and financial support to enable families and providers to establish and maintain these practices at the ASXL CoE
  • Create Find a Doctor database, which will provide contact information for specialists who are ASXL experts

Trials & Treatments

  • Test use of existing medications and supplements
  • Identify potential treatments that can extend and improve lives
  • Find a cure to prevent ASXL mutations in prenatal tissue

Gene Therapy & Editing

  • Becoming a reality of other genetic conditions such as Spinal Muscular Atrophy (SMA) and ocular diseases
  • Continue to monitor this field for progress that can be translated to the ASXL community
  • Eventually transition to clinical trials with a robust registry of patients ready for enrollment

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Terms

Clinical research: Based on the ASXL patient driven registry and other family identified needs,  determine important medical issues to study and recommend management plan of care

Basic scientific research: Includes developmental biology and molecular research to increase understanding of the underlying mechanism of disease

  • Need to better understand the role of ASXL1/ASXL2/ASXL3
  • Explore how gene function and regulation (e.g. proteins that regulate which genes in different organs are turned on and off) could be applied to ASXL syndromes

Functional Studies for patients who have variants of unknown significance in an ASXL gene to determine if their genetic change is likely to cause disease

Biobanking: Collection of ASXL samples (e.g. skin fibroblasts, buccal swabs, blood, etc.) for storage and distribution to scientific and medical researchers

Models: ASXL animal models of disease (e.g. mice, fruit flies) in order to better understand the underlying mechanism of disease which will help with development of further treatment options