Mila's Miracle Foundation

Patient-Partnered Collaboration

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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 04/30/2026

Clinical

Disease Class

Multi-system genetic syndromes

Neurological diseases

Body Systems

Nervous / Sensory

Organs

Brain

Eyes

Muscles

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

CLN1 (PPT1)

CLN10 (CTSD)

CLN11 (GRN)

CLN12 (ATP13A2)

CLN13 (CTSF)

CLN14 (KCTD7)

CLN2 (TPP1)

CLN3

CLN4 (DNAJC5)

CLN5

CLN6

CLN7 (MFSD8)

CLN8

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal recessive

Newborn Screening

No, but we are in the process of requesting the addition of our gene(s)

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)

Average Age at Diagnosis

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Affected Sex(es)

Female

Male

National Prevalence

101-1000

Global Prevalence

1001-10000

National Incidence

Less than 10

Global Incidence

Less than 10

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

Diagnostic

· Brain volumetry, Cerebrospinal fluid (CSF) proteins, CSF metabolites

Monitoring

· Brain volumetry, Brain activity, Neurofilament proteins

Prognostic

· Brain volumetry, Cerebrospinal fluid (CSF) proteins, CSF metabolites

Therapeutic

· Brain volumetry, Brain activity, Neurofilament proteins

Existing Therapies

Complementary and Alternative treatments

· 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. These treatments include: Anticonvulsants - Control seizures; Cerebyx (fosphenytoin) - Helps control generalized tonic-clonic status epilepticus seizures

Regulatory Agency-Approved for Symptom Relief

· Cerliponase alfa, also known by the brand name Brineura, is an enzyme replacement therapy that slows the loss of walking ability in children with CLN2

Therapies in Development

Antisense oligonucleotide (ASO) therapy

Cellular therapies (stem cell transplants, CAR-T therapies, etc.)

Gene therapy

Other (please specify)

· Enzyme replacement therapies

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

Approved/Available

Awaiting final regulatory decision

IND/CTA submitted but not approved

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Funding

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Outcome measures development

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Organizational & Research

Cell Lines

Fibroblasts

iPSCs

Lymphoblasts

Cell Lines, Institution

Boston Children's Hospital

Northwestern University

Cell Lines, Involvement

Funded

Cell Lines, share

All our cell lines are freely available

Disease Model

Japanese macaque

Organoids

Disease Model, Involvement

Funded

Disease Model, share

All our disease models are freely available

Organizational Challenges

regulatory and reimbursement infrastructure development - need to put a new system in place that's geared towards process approval as opposed to product approval.

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

Clinical Trial Types

Other

Phase 1

Biobank, Institution

Boston Children's Hospital

Biobank, Involvement

Consulted

Designed

Center of Excellence, Institution

Children's Hospital of Colorado

Center of Excellence, Involvement

Consulted

Designed

Funded

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

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

We use an ICD-10 code capturing the family of diseases to which our disease belongs

Diagnostic Guidelines

Science Advisory Board Policies

No policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Research Roadmap

We don't have a Research Roadmap

None

Europe

Middle East

North America

Oceania

Europe

Oceania