Melanin Children Matter
Catalyst
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 May 2024
Clinical
Disease Class
Rare disorder without a determined diagnosis after full investigation
Rare genetic diseases
Rare inborn errors of metabolism
Rare neurological diseases
Body Systems
Nervous / Sensory
Organs
Brain
Connective tissue / joints
Lungs
Genes
SPTLC2
Type of Inheritance
Not specified / unknown
Disease Mechanism(s)
Lipid metabolism disorder
Protein misfolding
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Prebirth
Incidence
11-50
Prevalence
11-50
Populations and/or ancestry with higher prevalence
people of color and diverse back grounds
Symptoms / Phenotypes
autonomic nervous system problems
gait abnormalities / gait disturbance
gastrointestinal disorders
hearing loss / hearing impairment
infection, unspecified location
movement disorders / ataxia / tremor
muscle weakness
neuropathic pain
pain, chronic
penetrating foot ulcers
poor wound healing
sensory processing disorder / sensory hypersensitivity
Biomarkers
Diagnostic
Monitoring
Prognostic
Therapeutic
Existing Therapies
None
Organizational & Research
Cell Lines
Not specified / unknown
Cell Lines, location
NIH
Cell Lines, share
Yes
Disease Model
Not specified / unknown
Disease Model, location
Not specified
Disease Model, share
Unknown
Clinical Trial Role
Data analysis
Recruitment and outreach, patients
Results dissemination, publication
Study protocol design, review
Biobank
None
Center of Excellence
None
Registry
No, we do not have a registry, but we plan to create one
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
We have taken formal steps to schedule a meeting
FDA Patient-Focused Drug Development (PFDD) Program
We have taken formal steps to schedule a meeting
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
In the process of creating diagnostic guidelines
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
No full-time staff
Science Advisory Board Policies
Does not have an SAB
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
None