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Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions

NCT07208903 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 36

Last updated 2025-10-06

No results posted yet for this study

Summary

The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health. While this screening enables early detection and therapeutic intervention before symptom onset, it also raises psychological and ethical challenges that remain underexplored-particularly during the highly sensitive postpartum period.

Currently, data on parental experiences following a positive SMA NGS result are scarce, fragmented, and largely derived from North American studies or from metabolic screening contexts. Early publications highlight high levels of parental anxiety, dissatisfaction with the quality of result disclosure, and difficulties in processing complex medical information in a short, emotionally charged timeframe. These findings underscore the need for a deeper understanding of the subjective processes at play in this situation.

The PSYSMA project is designed as an ancillary study to the DEPISMA trial. Its aim is to retrospectively explore parents' lived experiences, their psychosocial support needs, and the impact of NGS on family dynamics and the parent-child relationship. Special attention is given to cases with uncertain results (e.g., ≥4 SMN2 copies without treatment) and false negatives, which remain poorly documented but may trigger unique forms of parental anxiety or adaptation.

This research is justified by two main needs:

* to guide public health policy toward integrating psychological support from the earliest stages of screening, in line with French National Health Authority (HAS) recommendations;
* to generate new knowledge transferable to other genetic diseases that may be included in future neonatal screening programs.

The overarching goal is to retrospectively investigate the psychological experience of parents confronted with a positive or false-negative SMA NGS result, in order to analyze its subjective, emotional, and relational effects, as well as related needs for psychological support.

Study objectives :

* Compare parental experiences according to the nature of the result (with or without treatment indication).
* Identify psychosocial support needs, including for siblings.
* Assess anxiety, depression, and post-traumatic symptoms associated with NGS.
* Explore the broader impact on family functioning, particularly in relation to genetic counseling and communication within the extended family.

Conditions

  • Spinal Muscular Atrophy (SMA)
  • Spinal Muscular Atrophy Type I

Interventions

BEHAVIORAL

focus group discussions

These sessions will address: * emotional reactions to the disclosure of the result * perceptions and representations of the disease and its treatment * the impact on the parent-child relationship * the lived experience of neonatal screening and the perception of the support provided

BEHAVIORAL

Interview with the psychologist

These sessions will address: * emotional reactions to the disclosure of the result * perceptions and representations of the disease and its treatment * the impact on the parent-child relationship * the lived experience of neonatal screening and the perception of the support provided

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-10-20
Primary Completion
2026-10-20
Completion
2026-10-20

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07208903 on ClinicalTrials.gov