Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.

NCT ID: NCT06289348

Last Updated: 2024-03-01

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 80 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-04-30
• Study Completion Date: 2027-04-30

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 baby's 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 patient's 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 anxietý. A probabilitý level of 5% (p ≤ 0.05) will be considered́ significant for the results of the statistical tests. Statistical calculations will be performed using SPSS v.24 software, R y Mplus v. 8.3 statistical software.

Conditions

Phenylketonuria

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

groupe 1

60 parents of children screened for PKU. Each of them will be assessed using a socio-psychological questionnaire (7 days after the announcement) and the revised event impact scale (7 days, 4 and a half months).

socio-psychological questionnaire

Intervention Type: BEHAVIORAL

ton collecte socio-demographic variable

revised event impact scale (IER-S)

Intervention Type: BEHAVIORAL

22 items assessed on a scale of frequency from 0 (not at all) to 4 (extremely)

groupe 2

25 parents from group 1. This smaller sample of 25 parents will be subjected to non-directive interviews (1 month after the announcement) and to the Stern interview (4 and a half months after the announcement).

socio-psychological questionnaire

Intervention Type: BEHAVIORAL

ton collecte socio-demographic variable

revised event impact scale (IER-S)

Intervention Type: BEHAVIORAL

22 items assessed on a scale of frequency from 0 (not at all) to 4 (extremely)

Non directive interview

Intervention Type: OTHER

composed of a very broad opening sentence to encourage the parents' discourse

Stern interview

Intervention Type: OTHER

54 questions to investigate the impact of the announcement and the parenthood construction

groupe 3

15 doctors : interview

semi-directive interview

Intervention Type: OTHER

to propose ideas for improving and harmonizing practices

groupe 4

5 midwifes : short interview

semi-directive interview

Intervention Type: OTHER

to propose ideas for improving and harmonizing practices

Interventions

socio-psychological questionnaire

ton collecte socio-demographic variable

Intervention Type: BEHAVIORAL

revised event impact scale (IER-S)

22 items assessed on a scale of frequency from 0 (not at all) to 4 (extremely)

Intervention Type: BEHAVIORAL

Non directive interview

composed of a very broad opening sentence to encourage the parents' discourse

Intervention Type: OTHER

Stern interview

54 questions to investigate the impact of the announcement and the parenthood construction

Intervention Type: OTHER

semi-directive interview

to propose ideas for improving and harmonizing practices

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Parent or doctor of a child screened for PKU, born during the inclusion phase of the study
• Family's first exposure to PKU: the PKU child must be either the eldest or the first sibling to be diagnosed with PKU following neonatal screening

Exclusion Criteria

• Failure to master the French language.
• Child screened is neither the eldest nor the first sibling to be screened.
• Refusal by the parents.
• Any other reason which, in the investigator's judgement, would impair the participants' ability to follow the study protocol, or the interpretation of interview data (e.g. the participating parent has a history of serious psychiatric pathology, one of the parents died at the child's birth, Couples in which one of the members suffers from a known decompensated psychiatric pathology at the time of recruitment. Couples where one of the members is under legal protection or a security measure, etc …).

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Céline BENSIMON

Role: STUDY_CHAIR

Assistance Publique - Hôpitaux de Paris

Locations

Hôpital Necker Enfants Malades

Paris, , France

Countries

France

Central Contacts

Pascale DELONLAY, MD, PhD

Role: CONTACT

pascale.delonlya@aphp.fr

+33 1 44 49 48 52

Aminata TRAORE

Role: CONTACT

aminata.traore6@aphp.fr

+33 1 42 19 27 34

Facility Contacts

Pascale DELONLAY, MD, PhD

Role: primary

pascale.delonlay@aphp.fr

+33 1 44 49 48 52

Other Identifiers

2023-A00970-45

Identifier Type: REGISTRY

Identifier Source: secondary_id

APHP230240

Identifier Type: -

Identifier Source: org_study_id