Melanin Children Matter
Building Leadership
At Melanin Children Matter, we're dedicated to servicing children, healing families, and educating society while enhancing awareness surrounding childhood rare diseases and resources for autism.
Last updated 04/30/2026
Clinical
Disease Class
Neurological diseases
Body Systems
Metabolic
Muscular / Skeletal
Respiratory
Organs
Lungs
Lymph fluid, nodes, ducts, vessels
Muscles
Known Genetic Link
Yes, one or more genes directly cause the condition
Causative Genes
SPTLC2
Contributory Genes
C9orf72
FUS
TARDBP
Type of Inheritance
De novo
Newborn Screening
No
Disease Mechanism(s)
Fatty acid oxidation defect
Neurotransmitter synthesis/metabolism defect
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Prebirth
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
Male
National Prevalence
11-50
Global Prevalence
51-100
National Incidence
Less than 10
Global Incidence
Less than 10
Populations and/or ancestry with higher prevalence
There is currently no solid evidence to suggest that SPTLC2-related pediatric ALS has a higher prevalence in any particular ethnic, racial, or geographic group. This condition is extremely rare, and due to its genetic nature, SPTLC2 mutations are likely present in all populations but are difficult to diagnose without targeted genetic screening. The incidence of ALS in general is higher in Caucasian populations in North America and Europe, but this does not directly correlate with SPTLC2-related ALS specifically. Ongoing research into ALS and genetic disorders will be important in uncovering any population-specific trends for SPTLC2-related pediatric ALS.
Symptoms / Phenotypes
autonomic nervous system problems
breathing difficulties
fatigue
feeding difficulties
gait abnormalities / gait disturbance
gastrointestinal disorders
hearing loss / hearing impairment
hyporeflexia
infection, unspecified location
movement disorders / ataxia / tremor
muscle atrophy
muscle weakness
neuropathic pain
pain, chronic
penetrating foot ulcers
poor wound healing
sensory processing disorder / sensory hypersensitivity
speech problems / apraxia
Biomarkers
None
Existing Therapies
None
Therapies in Development
Not applicable
Therapeutic Development Stages
Not applicable/No treatments available
Therapeutic Development Role
None
Organizational & Research
Cell Lines
iPSCs
Cell Lines, Institution
Emory University
Washington University
Cell Lines, Involvement
Funded
Own
Cell Lines, share
Some of our cell lines are freely available
Disease Model
Drosophila/fly
Mouse
Yeast
Disease Model, Involvement
Funded
Own
Disease Model, share
Some of our disease models are freely available
Organizational Challenges
relationship management, research infrastructure development, therapeutic development
Clinical Trial Role
Data analysis
Meeting with regulators
Other consulting
Recruitment and outreach, patients
Results dissemination, publication
Study protocol design, review
Clinical Trial Types
Observational
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Clinical data
Genetic data
Patient contact info
Patient-reported data
Data Entered by, Registry
Both
Platform, Registry
Citizen Health
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
Yes
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
In the process of developing accredited guidelines
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Patient Priority Survey
Yes
Patient Priority Survey, share
No
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
None
Other International Research Initiatives
None