Q04.3
Conditions
Interventions
Group 1: 1st month 0-6:
Information of affected families
nomination of 5 interested families for cognitive interviews (target: 2 families with new diagnosis within the previous year, 2 families with diagnosis longer ago, 1 family with child already deceased
for this purpose, the questionnaire will be gone through and completed together by telephone with the caregiver completing the questionnaire using a prepared list of questions.
5. Month 4-12:
For fam
Sponsors
Universitätsklinikum Freiburg, Kinder- und Jugendklinik Klinik für Neuropädiatrie und Muskelerkrankungen
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) Custodial parent of a child with genetically secured PCH2 2) Written consent of the parents with custody
Exclusion criteria
Exclusion criteria: above criteria not met
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The aim of this study is to conduct a parent survey on the natural course of the disease by means of a detailed parent questionnaire. Through the very extensive collection of clinical course data, a solid data basis for the later establishment of a registry and possible therapy studies should be created. | — |
Secondary
| Measure | Time frame |
|---|---|
| Nutritional protocol, recording of medication history and care situation, recording of hospital stays and interventions, recording of prenatal and neonatal findings, recording of diagnostic measures and findings | — |
Countries
Germany
Contacts
Public ContactWibke Janzarik
Kinder- und Jugendklinik, Klinik für Neuropädiatrie und Muskelerkrankungen
Outcome results
None listed