Ignite Creation Date:
2024-05-06 @ 8:11 PM
Last Modification Date:
2024-10-26 @ 3:22 PM
Study NCT ID:
NCT06289348
Status:
NOT_YET_RECRUITING
Last Update Posted:
2024-03-01
First Post:
2024-02-26
Brief Title:
Announcement of Rare Metabolic Diseases in Systematic Newborn Screening the Phenylketonuria Experience
Sponsor:
Assistance Publique - Hôpitaux de Paris
Organization:
Assistance Publique - Hôpitaux de Paris
Study Overview
Official Title:
Announcement of Rare Metabolic Diseases as Part of Systematic New-born Screening the Experience of Phenylketonuria
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
ANNPHE
Brief Summary:
The aims of this collaborative interdisciplinary research project are to understand and describe the psychological impact of the announcement of a rare serious disease present since birth and detected in the context of the systematic neonatal screening DNS in terms of the parents experience but also on the part of the medical team in order to improve its process and the support it provides for the announcement of the diagnosis
Detailed Description:
In France newborn screening for phenylketonuria PKU has been offered systematically but not compulsorily since 1970 This enables the disease to be treated at an early stage with presymptomatic treatment While treatment can significantly improve the prognosis of affected children ensuring normal cognitive development without neurological sequelae the announcement of the suspicion of the disease and confirmation of the diagnosis can be painful even traumatic for parents due in particular to the very specific context of the DNS The screening results are not available until 10 days after the babys birth and given the urgency of the treatment the announcement is made by a telephone call to the families when they have already returned home with their asymptomatic newborn This call was made by an unknown doctor from a center of reference or competence for rare diseases in this case hereditary metabolic diseases HMD whom the parents did not know and who asked them to come to his department as a matter of urgency This disease is not visible at the time of diagnosis although intoxication is already present This research follows on from a pilot study2 which showed the traumatic nature of this call which for the families means that in an instant they are thrust into the field of a rare genetic and chronic disease for the teams means that the care relationship will continue until the end of the patients adolescence The aims of this collaborative interdisciplinary research project are to understand and describe the psychological impact of the announcement of a rare serious disease present since birth and detected in the context of the DNS in terms of the parents experience but also on the part of the medical team in order to improve its process and the support it provides for the announcement of the diagnosis
The analysis will be carried out under the responsibility of the researcher her thesis supervisor Dr Marco Araneda MCU Université Paris-Cité and her thesis co-supervisor Pr Pascale de Lonlay PU-PH APHP and Université Paris-Cité
1 Analysis of qualitative data
The interviews with the parents doctors and midwives will be transcribed and then analysed using NVivo software based on grounded theory methodology
2 Analysis of quantitative data
The data from the socio-psychological questionnaire will be analysed using simple multidimensional descriptive statistics
We will carry out an analysis of variance with repeated measures IES-R time 1 time 2 to estimate the impact of time and care on the level of anxiety A probability level of 5 p 005 will be considered significant for the results of the statistical tests Statistical calculations will be performed using SPSS v24 software R y Mplus v 83 statistical software
The analysis will be carried out under the responsibility of the researcher her thesis supervisor Dr Marco Araneda MCU Université Paris-Cité and her thesis co-supervisor Pr Pascale de Lonlay PU-PH APHP and Université Paris-Cité
1 Analysis of qualitative data
The interviews with the parents doctors and midwives will be transcribed and then analysed using NVivo software based on grounded theory methodology
2 Analysis of quantitative data
The data from the socio-psychological questionnaire will be analysed using simple multidimensional descriptive statistics
We will carry out an analysis of variance with repeated measures IES-R time 1 time 2 to estimate the impact of time and care on the level of anxiety A probability level of 5 p 005 will be considered significant for the results of the statistical tests Statistical calculations will be performed using SPSS v24 software R y Mplus v 83 statistical software
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 2023-A00970-45 | REGISTRY | ID-RCB | None |