Hao-Fountain-Syndrome (USP7-associated)
Conditions
Interventions
Group 1: The following procedures are planned:
MRI of the brain (sedated), lumbar puncture (sedated) (measurement of ghrelin, orexin/hypocretin, 5-hydroxy-indoleacetic acid, homovanillic acid, 4-hydro
Sponsors
Institut für Humangenetik
Eligibility
Sex/Gender
All
Age
5 Years to 21 Years
Inclusion criteria
Inclusion criteria: 1) Previously identified pathogenic variant in the USP7 gene. 2) The age of the proband must be between 5-21 years.
Exclusion criteria
Exclusion criteria: 1) Dependence on mechanical ventilation. 2) Inability to travel to Heidelberg University Hospital. 3) History of not tolerating fasting for up to 7 hours. 4) Known risk from exposure to high magnetic fields (due to pacemakers, metallic implants, internal electrical devices). 5) Claustrophobia. 6) Hypersensitivity to phenobarbital, gamma-hydroxybutyrate, choralhydrate or any formulation component. 7) A positive urine pregnancy test in females of child-bearing age.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The aim of the study is to carefully characterize phenotypes associated with the pathogenic variant in USP7. | — |
Secondary
| Measure | Time frame |
|---|---|
| There are no secondary outcomes. | — |
Countries
Germany
Contacts
Public ContactSebastian Sailer
Universitätsklinikum HeidelbergInstitut für Humangenetik
Outcome results
None listed