Project 8p
Cycle 1
Chromosome 8p disorders are rare genetic conditions with approximately 350 patients around the world and counting. The majority of affected individuals have developmental delays including disordered acquisition of cognitive and social competence and delays in reaching developmental milestones.
Last updated May 2024
Clinical
Disease Class
Rare neurological diseases
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Muscular / Skeletal
Nervous / Sensory
Organs
Brain
Heart
Liver
Skin
Stomach
Genes
None specified / unknown
Type of Inheritance
De novo
Disease Mechanism(s)
Unknown
Age of Onset
Prebirth
Incidence
11-50
Prevalence
101-1000
Symptoms / Phenotypes
autism
autistic behavior
balance problems
cardiac abnormalities
developmental delay
distinctive facial features
feeding difficulties
growth delay / deficiency
hyperlaxity / joint laxity
hypertonia
hypotonia
intellectual disability
movement disorders / ataxia / tremor
seizures / epilepsy
sensory processing disorder / sensory hypersensitivity
sleep disorders
speech problems / apraxia
vision problems
Biomarkers
Diagnostic
Existing Therapies
None
Organizational & Research
Cell Lines
iPSCs
Cell Lines, location
Mt. Sinai
Sampled
Cell Lines, share
Yes
Disease Model
Organoids
Disease Model, location
University of California San Diego (UCSD)
Disease Model, share
Yes
Clinical Trial Role
Not involved
Biobank
Sampled
Van Andel Institute
Center of Excellence
Colorado Children's
Registry
Yes, we have a registry that we created
Data Collected, Registry
Clinical data
Electronic health records/electronic medical records
Genetic data
Imaging data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Both
Platform, Registry
Matrix
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Retrospective data
Platform, Natural History Study
Matrix
RARE-X
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
No
Clinical/Treatment Guidelines
In the process of creating clinical/treatment guidelines
Organizational Roles
Executive Director
Patient Engagement Manager/Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Has CRN and willing to share policies
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe