Raymond A. Wood Foundation
Cycle 2
Childhood hypothalamic-pituitary brain tumors can affect the function of the pituitary gland and other nearby structures in the brain. Symptoms include gradual changes in vision, fatigue, excessive urination and headaches. Children with these tumors may grow slowly and may be smaller than expected.
Last updated May 2024
Clinical
Disease Class
Rare brain tumor
Body Systems
Endocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Organs
Brain
Genes
BRAF
CTNNB1
Type of Inheritance
Not specified / unknown
Disease Mechanism(s)
Abnormal cell proliferation
Pathogenic mutation
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Elderly (age 65+)
Infancy (age 0-1)
Middle childhood (6-11)
Prebirth
Incidence
Less than 10
Prevalence
101-1000
Populations and/or ancestry with higher prevalence
highest incidence in Japan and West Africa, particularly in Nigeria. In the United States, there is an increased incidence among Blacks compared to other races.
Symptoms / Phenotypes
adipsia / hypodipsia
anxiety
balance problems
behavioral changes
excessive hunger / hyperphagia
growth delay / deficiency
headaches / migraines
intellectual disability
polydipsia
seizures / epilepsy
thermal dysregulation
vision problems
weight gain
Biomarkers
Diagnostic
· Yes for a type pf craniopharyngioma called papillary craniopharyngioma. However, the biomarker development is at the research stage. Lack of funding to validate that biomarker
Prognostic
· Imaging data can help for some prognostic
Therapeutic
· Yes there are some biomarkers to assess therapeutic efficacy for tumor treatments. Other biomarkers, essentially questionnaires serve as biomarkers for efficacy of drugs against hyperphagia. Other anthropometric measures such as weight or BMI for weight loss...
Existing Therapies
Alternative treatments (eg. nutritional supplements)
· surgical resection and radiotherapy for tumor treatmentnmany nutritional supplements as well as vitamins
Drugs approved for the symptoms
Drugs used off-label
· anti-obesity drugs
Other
· Drugs are being tested in clinical trials for tumor reduction and hypothalamic obesity
Organizational & Research
Cell Lines
Cancer/tumor cells
Organoids
Cell Lines, location
Childrens Brain Tumor Network (CBTN)
Colorado Children's
Princess Máxima Center for Pediatric Oncology
Cell Lines, share
IDK
Disease Model
Mouse
Organoids
Rat
Disease Model, location
Seattle Children's Hospital
University College London (UCL)
Disease Model, share
Unknown
Clinical Trial Role
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Study material design, review (not protocol)
Study protocol design, review
Biobank
None
Center of Excellence
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Clinical data
Imaging data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
IAMRARE
Natural History Study
Yes, we have a natural history study that we created
Data Collected, Natural History Study
Imaging data
Medication usage
Patient-reported outcomes
Prospective data
Platform, Natural History Study
IAMRARE
FDA Patient Listening Session
Yes
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
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
Not Specified
Research Network Policies
Not specified
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
None
International Partners
Europe