The Yaya Foundation for 4H Leukodystrophy

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4H Leukodystrophy is a rare disease of the central nervous system. The name 4H stands for Hypomyelination, Hypogonadotropic Hypogonadism and Hypodontia. The disease is also known as POLR3-Related Leukodystrophy or 4H Syndrome. Leukodystrophy disease affects the white matter of the brain and damages the myelin sheath, which surrounds and protects the nerve cells in the brain and spinal cord and assists with transmission of messages between cells. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism are common signs of leukodystrophy disease.

Last updated May 2024

Clinical
Disease Class
Rare endocrine diseases
Rare genetic diseases
Rare neurological diseases
Body Systems
Digestive
Endocrine
Muscular / Skeletal
Nervous / Sensory
Reproductive
Respiratory
Organs
Brain
Ductus deferens
Eyes
Fallopian tubes
Mouth / teeth
Ovaries
Penis
Prostate gland
Scrotum
Testes
Thyroid
Uterus
Genes
POLR1C
POLR3A
POLR3B
POLR3D
POLR3K
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Myelination defect
Pathogenic mutation
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Incidence
11-50
Prevalence
101-1000
Populations and/or ancestry with higher prevalence
French Canadian due to founder effect (POLR3A)
Symptoms / Phenotypes
abnormality of the dentition
atypical puberty
balance problems
breathing difficulties
cognitive decline
craniofacial abnormalities
developmental delay
dysphagia
growth delay / deficiency
joint pain / arthralgia
movement disorders / ataxia / tremor
muscle stiffness
vision problems
Biomarkers
Diagnostic
· MRI (brain), mutation analysis
Existing Therapies
Other
· Only supportive therapies are available
Organizational & Research
Cell Lines
iPSCs
Cell Lines, location
McGill University Health Centre
Cell Lines, share
IDK
Disease Model
Mouse
Disease Model, location
Albert Einstein College of Medicine
McGill University Health Centre
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
None
Center of Excellence
None
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Genetic data
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
RARE-X
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Genetic data
Imaging data
Prospective data
Retrospective data
Platform, Natural History Study
Other
REDCap
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Diagnostic Guidelines
No
Clinical/Treatment Guidelines
No
Organizational Roles
Executive Director
Science Advisory Board Policies
No policies
Research Network Policies
Does not have a CRN
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe