Health conditions
(Data source: WHO)
Hao-Fountain-Syndrome (USP7-associated)
Interventions (Data source: WHO)
Intervention 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-hydroxy-3-methoxyphenyl-ethylene glycol (HMPG))), x-ray of the thoracic spine (ap and lat), measurement of the bone-health-index (x-ray of the left hand), an oral glucose-tolerance test (measurement of ghrelin and glucose in the serum), measurement of the following parameters in the serum: IGF-1 (insulin like growth factor 1), IGFBP3 (insulin growth factor binding protein 3), TSH (thyroid stimulating hormone), free T4 (free thyroxine), ghrelin, glucose, LH (luteinizing hormone), FSH (follicle stimulating hormone), AP (alkaline phosphatase), parathyroid hormone, calcium, male subjects of 12 years or older: testosterone.
Inclusion/Exclusion Criteria
(Data source: WHO)
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: 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.
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Further information on trial
Date trial registered
Dec 6, 2021
Incorporation of the first participant
Feb 1, 2022
Recruitment status
Pending
Academic title
(Data source: WHO)
Clinical Phenotyping of Individuals with USP7-Related Diseases
Type of trial
(Data source: WHO)
observational
Design of the trial
(Data source: WHO)
Allocation: Single arm study;. Masking: Open (masking not used). Control: Uncontrolled/Single arm. Assignment: Single (group). Study design purpose: Othe
Phase
(Data source: WHO)
N/A
Primary end point
(Data source: WHO)
The aim of the study is to carefully characterize phenotypes associated with the pathogenic variant in USP7.
Secundary end point
(Data source: WHO)
There are no secondary outcomes.
Contact information
(Data source: WHO)
Foundation for USP7-Related Diseases
Trial results
(Data source: WHO)
Results summary
no information available yet
Link to the results in the primary register
no information available yet
Information on the availability of individual participant data
Yes
Samples of the CSF will be sent to the following biobank:Infinity Biologix LLX (IBX)604 Allison RoadC-242, Piscataway NJ 08854, USAThe samples are only accessible after unanimous approval by the Foundation for USP7-Related Diseases and the CombinedBrain consortium.
Trial sites
Countries
(Data source: WHO)
Switzerland might not appear as site of trial if it has not yet been entered as such in the WHO primary registry.
Germany
Further trial identification numbers
Secondary ID (Data source: WHO)
S-499/2021
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