STAR Foundation (formerly A STAR for Ben Foundation)

Cycle 3

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Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD) are neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. The mildest phenotype is Salla disease, which is characterized by normal appearance and neurologic findings at birth followed by slowly progressive neurologic deterioration resulting in mild to moderate psychomotor retardation, spasticity, athetosis, and epileptic seizures.

Last updated 04/30/2026

Clinical

Disease Class

Epilepsy and seizure disorders

Genetic diseases

Inherited metabolic disorder

Intellectual disability and developmental syndromes

Leukodystrophies and white matter disorders

Lysosomal and storage diseases

Muscular and neuromuscular diseases

Neurological diseases

Body Systems

Cardiovascular / Circulatory

Metabolic

Muscular / Skeletal

Nervous / Sensory

Renal / Urinary / Excretory

Respiratory

Organs

Blood

Bones

Brain

Ears

Eyes

Heart

Kidneys

Liver

Lungs

Mouth / teeth

Muscles

Nerves

Skin

Spleen

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

SLC17A5

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal recessive

Newborn Screening

Disease Mechanism(s)

Amino acid transporter defect

Endosomal/lysosomal defect

Inherited metabolic disorder

Lipid metabolism disorder

Myelination defect

Other

Other nutrient/metabolite transporter defect

Pathogenic mutation

Protein aggregation

Transport defect

Age of Onset

Early childhood (age 1+-5)

Infancy (age 0-1)

Average Age at Diagnosis

Early childhood (age 1+-5)

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Middle childhood (6-11)

Affected Sex(es)

Female

Intersex

Male

National Prevalence

51-100

Global Prevalence

101-1000

National Incidence

Less than 10

Global Incidence

Less than 10

Populations and/or ancestry with higher prevalence

There is a noted higher prevalence in Scandinavian countries, especially Finland (Salla disease is named for an area in Lapland, Finland, where prevalence reaches 20 in a million). However, the diverse families already connected with STAR questions whether inadequate diagnosis or availability of genetic testing has masked prevalence in other communities. STAR families are from Canadian-Inuit and Old Order Mennonite communities, and diverse global regions including eastern Europe, India, Latin America, and the Middle East.

Symptoms / Phenotypes

cognitive impairment / confusion / brain fog

hypotonia

intellectual delay / global developmental delay

nystagmus

poor coordination

spasticity

Biomarkers

Diagnostic

· Free sialic acid in urine; fibroblasts

Prognostic

· Free sialic acid in urine; fibroblasts

Existing Therapies

Complementary and Alternative treatments

· Physical Therapy, Occupational Therapy, speech language therapy, aqua therapy and hippotherapy, behavioral therapy

Regulatory Agency-Approved for Symptom Relief

Therapies in Development

Gene therapy

Repurposed drug

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

In research/exploratory phase

Organizational & Research

Cell Lines

Fibroblasts

iPSCs

Cell Lines, Institution

Albert Einstein College of Medicine

Children's Hospital of Orange County (CHOC)

Coriell Institute

NIH

NIH National Human Genomes Research Institute (NHGRI)

National Center for Advancing Translational Sciences (NCATS)

Cell Lines, Involvement

Consulted

Funded

Cell Lines, share

All our cell lines are freely available

Disease Model

Mouse

Zebrafish

Disease Model, Involvement

Consulted

Funded

Disease Model, share

All our disease models are freely available

Clinical Trial Role

Not involved

Biobank, Institution

None

Center of Excellence, Institution

None

Registry

Yes, we have a registry that we created

Data Collected, Registry

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

Genetic data

Imaging data

Medication usage

Patient-reported outcomes

Retrospective data

Platform, Natural History Study

Other

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

In the process of creating diagnostic guidance for our website

In the process of creating formal diagnostic guidelines for publication in a peer-reviewed journal

Science Advisory Board Policies

No policies

Research Network Policies

Has CRN and willing to share policies

Patient Priority Survey

Research Roadmap

We don't have a Research Roadmap

None