INADcure Foundation
Cycle 1
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 May 2024
Clinical
Disease Class
Rare 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
Trachea, cervical
Genes
PLA2G6
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Enzyme deficiency
Lipid metabolism disorder
Lysosomal defects
Mitochondrial defects
Mitochondrial dysfunction
Pathogenic mutation
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Middle childhood (6-11)
Incidence
Less than 10
Prevalence
101-1000
Populations and/or ancestry with higher prevalence
The highest genetic prevalence is in African/African-American (1 in 421,960 to 1 in 365,197) and East-Asian (1 in 683,978 to 1 in 190,771) populations.
Symptoms / Phenotypes
autonomic nervous system problems
cognitive decline
developmental delay
hearing loss / hearing impairment
hypotonia
movement disorders / ataxia / tremor
scoliosis / spinal curvature
seizures / epilepsy
sleep disorders
spasticity
speech problems / apraxia
vision problems
Biomarkers
Diagnostic
· Cerebellar hypoplasia via MRI, hypotonia
Monitoring
· Loss of trunk control
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· Ambroxol, Genistein, vitamin B-12
Drugs approved for the symptoms
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
NPCs
Cell Lines, location
New York Stem Cell Foundation
Cell Lines, share
Yes
Disease Model
Drosophila/fly
Mouse
Disease Model, location
Baylor College of Medicine
Jackson Laboratories (JAX)
New York Stem Cell Foundation
Oregon Health and Sciences University (OHSU)
Riken Institute
Washington University
Disease Model, share
Unknown
Clinical Trial Role
Meeting with regulators
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Biobank
New York Stem Cell Foundation
Center of Excellence
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Patient contact info
Data Entered by, Registry
Other
Platform, Registry
Other
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
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
No
Clinical/Treatment Guidelines
Yes
Organizational Roles
Director of Operations/Director of Development
Executive Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
Europe
South America