INADcure Foundation

Cycle 1

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INAD stands for Infantile Neuroaxonal Dystrophy, otherwise known as PLAN (phospholipase associated neurodegeneration). It affects the part of a nerve cell that carries messages from the brain to other parts of the body. INAD causes loss of vision, muscular control, and mental skills.

Last updated 04/30/2026

Clinical

Disease Class

Genetic diseases

Neurological diseases

Body Systems

Cardiovascular / Circulatory

Digestive

Hematopoietic / Lymphatic / Immune

Muscular / Skeletal

Nervous / Sensory

Renal / Urinary / Excretory

Reproductive

Respiratory

Organs

Adrenal glands

Bladder

Bones

Brain

Connective tissue / joints

Ears

Esophagus

Eyes

Heart

Intestines

Kidneys

Lungs

Mouth / teeth

Muscles

Nose

Pituitary glands

Spinal cord

Stomach

Throat/pharynx

Trachea, cervical

Known Genetic Link

Yes, there are both genes that cause the condition and genetic factors that contribute

Causative Genes

PLA2G6

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal recessive

Newborn Screening

Disease Mechanism(s)

Enzyme deficiency

Age of Onset

Early childhood (age 1+-5)

Infancy (age 0-1)

Average Age at Diagnosis

Early childhood (age 1+-5)

Life Expectancy

Middle childhood (6-11)

Affected Sex(es)

Female

Male

National Prevalence

1001-10000

Global Prevalence

10000+

National Incidence

Less than 10

Global Incidence

Less than 10

Populations and/or ancestry with higher prevalence

Higher prevalence in East Asian population ○ East Asian: 1/238 (prevalence: 1/227,041) ○ Korean: 1/163 (prevalence: 1/106,626) ○ Other East Asian: 1/316 (prevalence: 1/398,910) Slightly higher prevalence in African and Bulgarian population

Symptoms / Phenotypes

autonomic nervous system problems

cognitive decline

developmental delay

hearing loss / hearing impairment

hypotonia

movement disorders / ataxia / tremor

seizures / epilepsy

sleep disorders

spasticity

speech problems / apraxia

vision problems

Biomarkers

Diagnostic

· Cerebellar hypoplasia via MRI, hypotonia

Monitoring

· Loss of trunk control

Existing Therapies

None

Therapies in Development

Gene therapy

Therapeutic Development Stages

IND/CTA submitted but not approved

In preclinical development

Therapeutic Development Role

Funding

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

Fibroblasts

iPSCs

Cell Lines, Institution

New York Stem Cell Foundation

Cell Lines, Involvement

Funded

Own

Cell Lines, share

Some of our cell lines are freely available

Disease Model

Mouse

Disease Model, Involvement

Consulted

Funded

Disease Model, share

Some of our disease models are freely available

Organizational Challenges

We are currently out of the research phase for our gene therapy program and onto our interactions with the FDA. We’ve had to learn the hard way that we need a regulatory consultant on board as well as a medical writer to organize the application as the clinical and translational scientist needed assistance with presenting our application to the FDA in the absolute best light.

Clinical Trial Role

Meeting with regulators

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Biobank, Institution

New York Stem Cell Foundation

Oregon Health and Sciences University (OHSU)

Biobank, Involvement

Funded

Center of Excellence, Institution

None

Registry

Yes, we have a registry that we created

Data Collected, Registry

Electronic health records/electronic medical records

Patient contact info

Patient-reported data

Data Entered by, Registry

Other

Platform, Registry

RARE-X

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Patient-reported outcomes

Prospective data

Platform, Natural History Study

Not specified

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

No, we do not have any ICD codes

Diagnostic Guidelines

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Does not have a CRN

Patient Priority Survey

IDK

Research Roadmap

Yes we have a Research Roadmap, and will share policies

None

Europe

South America

None