Mila's Miracle Foundation
Patient-Partnered Collaboration
Our mission is to find and fund paths to a cure for devastating neurological conditions like Batten disease. We are focused on helping to grow the new field of individualized medicines which Mila’s story has opened up, and making it accessible to many more across all rare diseases. Our hope is that our work will give other children like Mila a second chance at life.
Last updated May 2024
Clinical
Disease Class
Rare neurological diseases
Body Systems
Nervous / Sensory
Organs
Brain
Eyes
Muscles
Genes
CLN1 (PPT1)
CLN10 (CTSD)
CLN11 (GRN)
CLN12 (ATP13A2)
CLN13 (CTSF)
CLN14 (KCTD7)
CLN2 (TPP1)
CLN3
CLN4 (DNAJC5)
CLN5
CLN6
CLN7 (MFSD8)
CLN8
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Lysosomal defects
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Incidence
Less than 10
Prevalence
101-1000
Populations and/or ancestry with higher prevalence
European
Symptoms / Phenotypes
balance problems
behavioral changes
cognitive decline
dementia
developmental delay
feeding difficulties
growth delay / deficiency
intellectual delay / global developmental delay
microcephaly
seizures / epilepsy
sleep disorders
speech problems / apraxia
vision problems
Biomarkers
None
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· Some existing treatments can help control the symptoms of Batten disease and improve children’s quality of life — such as antiseizure drugs, treatments for spasticity, medications for anxiety and other behavioral symptoms, and physical and occupational therapy. These treatments cannot cure Batten disease but can help children retain their abilities for as long as possible.
Drugs approved for the symptoms
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Organoids
Plasma
Cell Lines, location
Boston Children's Hospital
Northwestern University
Cell Lines, share
Unknown
Disease Model
Japanese macaque
Disease Model, location
Oregon National Primate Research Center (ONPRC)
Disease Model, share
Yes
Clinical Trial Role
Data sharing
Funding
Meeting with regulators
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Results dissemination, publication
Study material design, review (not protocol)
Study protocol design, review
Travel coordination
Biobank
None
Center of Excellence
Children's Hospital of Colorado
Registry
No, we do not have a registry and have no plans to create one
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
Not specified
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We use an ICD-10 code capturing the family of diseases to which our disease belongs
Diagnostic Guidelines
No
Clinical/Treatment Guidelines
No
Organizational Roles
Executive Director
Science Advisory Board Policies
No policies
Research Network Policies
Has CRN but no policies
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
Europe