PCH-Familie e. V.
Patient-Partnered Collaboration
Pontocerebellar hypoplasias (PCH) are a group of rare heterogeneous conditions. At least six types of PCH have been described and a few rare variants are now being identified. The disease is characterized by prenatal development of an abnormally small cerebellum and brain stem, which is usually associated with profound intellectual disability and delayed or absent psychomotor milestones.
Last updated May 2024
Clinical
Disease Class
Rare genetic diseases
Rare neurological diseases
Body Systems
Digestive
Muscular / Skeletal
Nervous / Sensory
Respiratory
Organs
Brain
Genes
TSEN54 A307S
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Pathogenic mutation
tRNA splicing defect
Age of Onset
Infancy (age 0-1)
Prebirth
Incidence
Less than 10
Prevalence
51-100
Symptoms / Phenotypes
developmental delay
dysphagia
intellectual disability
microcephaly
movement disorders / ataxia / tremor
seizures / epilepsy
sleep disorders
vision problems
Biomarkers
None
Existing Therapies
None
Organizational & Research
Cell Lines
Fibroblasts
iPSCs
Organoids
Cell Lines, location
Hertie Institute for Brain Research
Cell Lines, share
Yes
Disease Model
Organoids
Disease Model, location
Hertie Institute for Brain Research
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
HILDA Biobank Freiburg at Children`s University Hospital Freiburg
Center of Excellence
None
Registry
No, we do not have a registry, but we plan to create one
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Retrospective data
Platform, Natural History Study
REDCap
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We use an ICD-10 code capturing the family of diseases to which our disease belongs
Diagnostic Guidelines
No
Clinical/Treatment Guidelines
No
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