Primary ImmunodeficienciesPSY-DIPNCT07766304
Long-term Psychological and Cognitive Evaluation of Children Treated With Allogeneic Hematopoietic Stem Cell Transplantation for Immunodeficiency
An observational study of Primary Immunodeficiencies and ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 to 8 years
- Conditions the study is for
- Primary Immunodeficiencies, ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION
- What is being tested?
- Neurocognitive, psychological, and psychosocial assessement
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- 19 Sep 2026to Sep 2028
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 to 8 years
- All sexes
- No healthy volunteers
- Child
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).
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Hélène Morel contact
France1 site, 1 recruiting
- Recruiting
Hôpital Necker-Enfants Malades
Paris, 75015
Agathe Escudier, M.D., 0171196346, agathe.escudier@aphp.fr
About this study
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.
Read the detailed description
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.
The study will take place within the pediatric immuno-hematology department of Necker-Enfants Malades Hospital (Assistance Publique-Hôpitaux de Paris) during a day hospital visit as part of routine follow-up.
- Being tested
- Neurocognitive, psychological, and psychosocial assessement
- Keywords
- Primary immunodeficiencies, Allogeneic hematopoietic stem cell transplantation, Neurocognitive functioning, Psychological functioning, Psychosocial functioning
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Neurocognitive, psychological, and psychosocial assessementOther
- 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.
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Other: Neurocognitive, psychological, and psychosocial assessement |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: Time 0
Secondary outcomes (10)
Assessment of attention and executive functions
Assessment of sustained attention, selective attention and executive attention using the Test of Everyday Attention for Children (TEA-Ch).
The assessment includes the following subtests:
- Sky Search
- Score!
- Creature Counting
- Dual Task ("Score Dual Task") Raw performances are converted into age-adjusted percentile ranks. Higher percentile scores indicate better attentional performance.
Interpretation:
- ≤5th percentile: Impaired
- 6th-10th percentile: Very low
- 11th-25th percentile: Borderline
- 26th-50th percentile: Low average
- 51st-75th percentile: High average
- >75th percentile: Superior
Measured: Time 0
Visual memory assessment and spatial organization
Assessment of visuospatial construction and visual memory using the Rey-Osterrieth Complex Figure Test.
The following measures are analyzed:
- Copy condition (visuoconstructive abilities)
- Delayed recall after 20 minutes (visual memory) Results are expressed as age-adjusted Z-scores. Higher scores indicate better performance. A Z-score ≤ -1.645 is considered clinically impaired.
Measured: Time 0
Assessment of reading abilities
Reading abilities are assessed using the Alouette-R Reading Test.
Outcome measures include:
Alouette-R
- Number of correctly read words
- Reading speed Results are expressed as age-adjusted Z-scores. Higher scores indicate better performance. A Z-score ≤ -1.645 is considered clinically impaired.
Measured: Time 0
Anxiety assessment
Assessment of anxiety using the Revised Children's Manifest Anxiety Scale (R-CMAS).
The questionnaire evaluates:
- Physiological Anxiety
- Worry/Oversensitivity
- Social Concerns/Concentration Results include subscale scores and an overall standardized T-score. Higher scores indicate greater anxiety symptoms.
Interpretation:
- Raw subscale score >13: Clinically significant
- Overall T-score ≥70: Clinical range
Measured: Time 0
Evaluation of behavioral functioning
Assessment of behavioral functioning using the Conners 3rd Edition (Conners-3).
The questionnaire evaluates:
- Inattention
- Hyperactivity/Impulsivity
- Learning Problems
- Executive Functioning
- Aggression
- Peer Relations
- Conduct Disorder
- Oppositional Defiant Disorder Results are expressed as standardized T-scores. Higher scores indicate greater symptom severity.
Interpretation:
- T-score <65: Within normal limits
- T-score 65-69: Borderline
- T-score ≥70: Clinically significant
Measured: Time 0
Assessment of autonomy and adaptability
Assessment of adaptive functioning using the Vineland Adaptive Behavior Scales, Second Edition (Vineland-II).
The assessment evaluates adaptive functioning across three domains:
- Communication (Receptive, Expressive, Written)
- Daily Living Skills (Personal, Domestic, Community)
- Socialization (Interpersonal Relationships, Play and Leisure, Coping Skills) Domain scores are derived from subdomain v-scale scores.
Interpretation of v-scale scores:
- 1-9: Low
- 10-12: Moderately low
- 13-17: Adequate
- 18-20: Moderately high
- 21-24: High Higher scores indicate better adaptive functioning.
Measured: Time 0
Assessment of socio-emotional skills
Assessment of socio-emotional competencies using the Social Skills Improvement System, Social-Emotional Learning Edition (SSIS-SEL).
The assessment evaluates five core domains:
- Self-awareness
- Self-management
- Social awareness
- Relationship skills
Measured: Time 0
Description of the experience of the illness and the transplant, and of the current psychological state
Qualitative analysis of the semi-structured interview with the child and then with the family, focused on the experience of the illness and the transplant and on the current psychological state.
Measured: Time 0
Assessment of emotional and behavioral disorders
Assessment of emotional and behavioral functioning using the Child Behavior Checklist (CBCL).
The following syndrome scales and composite scores are evaluated:
- Anxiety/Depression
- Withdrawn/Depressed
- Somatic Complaints
- Social Problems
- Thought Problems
- Attention Problems
- Rule-Breaking Behavior
- Aggressive Behavior
- Internalizing Problems
- Externalizing Problems
- Total Problems Score
Results are expressed as standardized T-scores. Higher T-scores indicate greater emotional or behavioral difficulties.
Interpretation:
- T-score <65: Normal
- T-score 65-69: Borderline clinical range
- T-score ≥70: Clinical range
Measured: Time 0
Assessment of handwriting abilities
Handwriting abilities are assessed using the BHK Handwriting Test.
Outcome measures include:
- Handwriting speed Results are expressed as age-adjusted Z-scores. Higher scores indicate better performance. A Z-score ≤ -1.645 is considered clinically impaired.
Measured: Time 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Aug 2026
- Study start19 Sep 2026
- Primary completionSep 2028 (estimated)
- Study completionSep 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Primary ImmunodeficienciesStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Agathe Escudier, MD, Principal investigator, Assistance Publique - Hôpitaux de ParisBénédicte Neven, M.D., PhD, Study director, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07766304
- Sponsor's protocol ID
- APHP260155
- Other IDs
- ID-RCB Number : 2026-A00300-51
- Acronym
- PSY-DIP
- Status last verified
- Sep 2026
- First submitted
- 4 Jun 2026
- Last updated
- 16 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 35723794Johnson 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.
PubMed 11180575Cole 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.
PubMed 23397467Neven 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.
PubMed 19168787Day 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.
PubMed 35579633Andrykowski 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.
PubMed 10578162