Long-term Psychological and Cognitive Evaluation of Children Treated With Allogeneic Hematopoietic Stem Cell Transplantation for Immunodeficiency

NCT07766304 | Not Yet Recruiting

• 2 other identifiers: APHP260155ID-RCB Number : 2026-A00300-51
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

Primary immunodeficiencies (PIDs) are a large group of genetic diseases of the immune system with highly variable clinical presentations. Allogeneic hematopoietic stem cell transplantation (HSCT) is one of the treatments offered to some patients with PIDs. It is a curative but particularly demanding treatment, potentially life-threatening, requiring several months of hospitalization, prolonged limitations in social interactions for the patient, and impacting the entire family unit. The short-term complications of HSCT are numerous and well-known. However, few studies describe the long-term psychological and cognitive complications of HSCT, particularly in the context of PIDs. The few published studies in children concern patients transplanted for hematological malignancies, a context very different from that of primary immunodeficiencies. This study is a pilot research project focusing on the multidimensional assessment of the neurocognitive, psychological, and psychosocial functioning of children between 6 and 8 years old who have received allogeneic hematopoietic stem cell transplantation for primary immunodeficiency for at least 2 years. These stringent criteria aim to limit biases related to the diversity of ages at which care is provided.

Conditions

Primary Immunodeficiencies; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION

Keywords

Primary immunodeficiencies; Allogeneic hematopoietic stem cell transplantation; Neurocognitive functioning; Psychological functioning; Psychosocial functioning

Outcome Measures

Primary Outcomes (1)

• Standardized measure of intelligence quotient

  Assessment of global intellectual functioning using the Wechsler Preschool and Primary Scale of Intelligence, Fourth Edition (WPPSI-IV) or the Wechsler Intelligence Scale for Children, Fifth Edition (WISC-V), according to the participant's age. The Full-Scale IQ is derived from five cognitive indices: * Verbal Comprehension Index (VCI) * Visual Spatial Index (VSI) * Fluid Reasoning Index (FRI) * Working Memory Index (WMI) * Processing Speed Index (PSI) Each index is standardized with a mean of 100 and a standard deviation (SD) of 15. Individual subtests have a mean score of 10 (SD 3). Higher scores indicate better cognitive performance. Interpretation of IQ scores: * \<70: Extremely low (clinically impaired) * 70-79: Borderline * 80-89: Low average * 90-109: Average * 110-119: High average * 120-129: Superior * ≥130: Very superior For subtest scaled scores: * 15-19: Very high * 12-14: High average * 9-11: Average * 7-8: Low average * 6: Borderline * 1-5: Impaired

  Time 0

Secondary Outcomes (10)

• Assessment of attention and executive functions

  Time 0

• Visual memory assessment and spatial organization

  Time 0

• Assessment of reading abilities

  Time 0

• Anxiety assessment

  Time 0

• Evaluation of behavioral functioning

  Time 0

Study Arms (1)

Patients

Children between 6 and 8 years old who have received allogeneic hematopoietic stem cell transplantation for primary immunodeficiency for at least 2 years followed in the pediatric Immunohematology department of Necker Hospital (Assistance Publique-Hôpitaux de Paris).

Other: Neurocognitive, psychological, and psychosocial assessement

Interventions

Neurocognitive, psychological, and psychosocial assessement OTHER

* A neuropsychological assessment including: * Administration of standardized psychometric tests. * Administration of parental and self-report questionnaires. * A semi-structured neuropsychological interview about academic and developmental history, and current difficulties. * A psychological assessment including two clinical interviews: * The first with the child alone. * The second with at least one parent (ideally both) and the child.

Patients

Eligibility Criteria

• Age: 6 Years - 8 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Children between 6 and 8 years old who have received allogeneic hematopoietic stem cell transplantation for primary immunodeficiency for at least 2 years followed in the pediatric Immunohematology department of Necker Hospital (Assistance Publique-Hôpitaux de Paris).

You may qualify if:

• Patients who underwent allogeneic transplantation for a primary immunodeficiency at Necker Hospital, regardless of the genetic diagnosis, and at least 2 years post Allogeneic hematopoietic stem cell transplantation.
• Chronological age at the time of evaluation between 6 years and 8 years 11 months.
• Holders of parental authority and children or adolescents or adults' patients informed and consenting to participate in the study

You may not qualify if:

• Child transplanted for a condition other than the primary immunodeficiency or at a different center.
• Presence of an associated acquired or genetic neurological condition, independent of the PID, likely to significantly impair cognitive development.
• Severe uncorrected sensory impairment (auditory or visual) rendering the cognitive assessment uninterpretable.
• Refusal to participate by the child or those with parental authority.
• Child not fluent in French or not proficient enough in French to complete the cognitive tests and questionnaires.
• Profound intellectual disability.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hôpital Necker-Enfants Malades

Paris, 75015, France

Location

Related Publications (6)

• Nicholson B, Goodman R, Day J, Worth A, Carpenter B, Sandford K, Morris EC, Burns SO, Ridout D, Titman P, Campbell M. Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity. J Clin Immunol. 2022 Oct;42(7):1451-1460. doi: 10.1007/s10875-022-01286-6. Epub 2022 Jun 20.

  PMID: 35723794 BACKGROUND

• Johnson Vickberg SM, Duhamel KN, Smith MY, Manne SL, Winkel G, Papadopoulos EB, Redd WH. Global meaning and psychological adjustment among survivors of bone marrow transplant. Psychooncology. 2001 Jan-Feb;10(1):29-39. doi: 10.1002/1099-1611(200101/02)10:13.0.co;2-y.

  PMID: 11180575 BACKGROUND

• Cole TS, McKendrick F, Cant AJ, Pearce MS, Cale CM, Goldblatt DR, Gennery AR, Titman P. Cognitive ability in children with chronic granulomatous disease: a comparison of those managed conservatively with those who have undergone hematopoietic stem cell transplant. Neuropediatrics. 2013 Aug;44(4):230-2. doi: 10.1055/s-0033-1333875. Epub 2013 Feb 8.

  PMID: 23397467 BACKGROUND

• Neven B, Leroy S, Decaluwe H, Le Deist F, Picard C, Moshous D, Mahlaoui N, Debre M, Casanova JL, Dal Cortivo L, Madec Y, Hacein-Bey-Abina S, de Saint Basile G, de Villartay JP, Blanche S, Cavazzana-Calvo M, Fischer A. Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood. 2009 Apr 23;113(17):4114-24. doi: 10.1182/blood-2008-09-177923. Epub 2009 Jan 23.

  PMID: 19168787 BACKGROUND

• Day JW, Elfeky R, Nicholson B, Goodman R, Pearce R, Fox TA, Worth A, Booth C, Veys P, Carpenter B, Hough R, Gaspar HB, Titman P, Ridout D, Workman S, Hernandes F, Sandford K, Laurence A, Campbell M, Burns SO, Morris EC. Retrospective, Landmark Analysis of Long-term Adult Morbidity Following Allogeneic HSCT for Inborn Errors of Immunity in Infancy and Childhood. J Clin Immunol. 2022 Aug;42(6):1230-1243. doi: 10.1007/s10875-022-01278-6. Epub 2022 May 17.

  PMID: 35579633 BACKGROUND

• Andrykowski MA, Cordova MJ, Hann DM, Jacobsen PB, Fields KK, Phillips G. Patients' psychosocial concerns following stem cell transplantation. Bone Marrow Transplant. 1999 Nov;24(10):1121-9. doi: 10.1038/sj.bmt.1702022.

  PMID: 10578162 BACKGROUND

Study Officials

• Agathe Escudier, MD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

• Bénédicte Neven, M.D., PhD

  Assistance Publique - Hôpitaux de Paris

  STUDY DIRECTOR

Central Study Contacts

Agathe Escudier, M.D.

CONTACT

0144498222; agathe.escudier@aphp.fr

Hélène Morel

CONTACT

helene.morel@aphp.fr

Study Design

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

Study Record Dates

• First Submitted: June 4, 2026
• First Posted: August 14, 2026
• Study Start: August 1, 2026
• Primary Completion (Estimated): August 1, 2028
• Study Completion (Estimated): August 1, 2028
• Last Updated: August 14, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)