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

NCT06289348 | Not Yet Recruiting

• 2 other identifiers: APHP2302402023-A00970-45
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

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.

Conditions

Phenylketonuria

Keywords

presymptomatic announcement; systematic neonatal screening; rare diseases; genetic disease; phenylketonuria; care relationship; psychological trauma; psychological impact; parent-child bonding; parenthood

Outcome Measures

Primary Outcomes (3)

• Psychological process linked to the announcement of inherited metabolic disease for the parents

  Identifying the psychological processes at work during and following the announcement of a child's illness (interview).

  4 and a half months

• Psychological impact of the announcement of an inherited metabolic disease on the doctors' experience

  interview.

  2 hours

• Measuring awareness of inherited metabolic diseases detected by midwives

  interview.

  1 hour

Secondary Outcomes (1)

• Measure of the impact of the announcement on parents

  4 and a half months

Study Arms (4)

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).

Behavioral: socio-psychological questionnaire; Behavioral: revised event impact scale (IER-S)

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).

Behavioral: socio-psychological questionnaire; Behavioral: revised event impact scale (IER-S); Other: Non directive interview; Other: Stern interview

groupe 3

15 doctors : interview

Other: semi-directive interview

groupe 4

5 midwifes : short interview

Other: semi-directive interview

Interventions

socio-psychological questionnaire BEHAVIORAL

ton collecte socio-demographic variable

groupe 1; groupe 2

revised event impact scale (IER-S) BEHAVIORAL

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

groupe 1; groupe 2

Non directive interview OTHER

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

groupe 2

Stern interview OTHER

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

groupe 2

semi-directive interview OTHER

to propose ideas for improving and harmonizing practices

groupe 3; groupe 4

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Parent(s) of children screened for PKU, doctors in charge of the announcement and midwives in charge of the NBS.

You may qualify if:

• 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

You may not qualify if:

• 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 …).

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hôpital Necker Enfants Malades

Paris, 75015, France

Location

MeSH Terms

Conditions

Phenylketonurias; Rare Diseases; Genetic Diseases, Inborn; Psychological Trauma

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Stress Disorders, Traumatic; Trauma and Stressor Related Disorders; Mental Disorders

Study Officials

• Céline BENSIMON

  Assistance Publique - Hôpitaux de Paris

  STUDY CHAIR

Central Study Contacts

Pascale DELONLAY, MD, PhD

CONTACT

+33 1 44 49 48 52; pascale.delonlya@aphp.fr

Aminata TRAORE

CONTACT

+33 1 42 19 27 34; aminata.traore6@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 26, 2024
• First Posted: March 1, 2024
• Study Start: April 1, 2024
• Primary Completion (Estimated): April 1, 2027
• Study Completion (Estimated): April 1, 2027
• Last Updated: March 1, 2024

Record last verified: 2024-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)