Parental perspective on the risk of infertility and fertility preservation options for children and adolescents with sickle cell disease considering hematopoietic stem cell transplantation

Objective Sickle cell disease (SCD) is associated with significant morbidity and mortality. Hematopoietic stem cell transplantation (HCT) can improve health-related quality of life (HRQOL) but may be physically and emotionally challenging. Thus, the aim of this study was to understand the experience of HCT from the perspective of youth and young adults (YYAs) post-HCT for SCD and their parents. Methods YYAs were recruited from an urban hospital. Sociodemographic and HCT-specific information was analyzed for all enrolled. YYAs and/or their primary caregivers during HCT, participated in semi-structured interviews (e.g., pre-HCT knowledge, challenges, advice for families/health care providers). Interviews were audio-recorded, transcribed, and analyzed using content analysis. Results There were 19 YYAs enrolled (63.2% male; 68.4% Black or African American; 47.4% Hispanic or Latino; M days post-HCT = 1946.53 ± 1329.13; M age at HCT = 10.95 ± 6.10 years old; M current age 15.74 ± 5.78 years old). Interviews were done with six YYAs alone, five YYA-caregiver dyads, and eight caregivers alone. The caregivers were all mothers. Participants reported underestimating the emotional impact HCT would have on themselves and their family members. They experienced challenges related to isolation, academics, finances, and post-HCT medical needs. In contrast, they felt well prepared for physiological aspects of HCT. They sought HCT to improve YYAs’ HRQOL and encouraged others to consider it, but to be cognizant of the potential psychosocial impact. Conclusions This study highlights the importance of preparing families for the psychosocial effects of HCT. Incorporating psychosocial assessment, education, and intervention throughout HCT has the potential to promote HRQOL for YYAs and their families.

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Machine-Learning Predictive Tool for the Individualized Prediction of Outcomes of Hematopoietic Cell Transplantation for Sickle Cell Disease: A Registry Based Study (Preprint)

Chandrashekar,

Kane,

Krishnamurti

2024

Preprint

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BACKGROUND Disease-modifying therapies ameliorate disease severity of sickle cell disease (SCD), but hematopoietic cell transplantation (HCT) and more recently autologous gene therapy are the only treatments that have curative potential for sickle cell disease (SCD). While registry-based studies provide population-level estimates they do not address the uncertainty regarding individual outcomes of HCT. Computational machine learning (ML) has the potential to identify generalizable predictive patterns and quantify uncertainty in estimates thereby improving clinical decision-making. There is no existing ML Model for SCD and ML models for HCT for other diseases focus on single outcomes rather than all relevant outcomes. OBJECTIVE Address the existing knowledge gap by developing, and validating an individualized ML-prediction model, sickle cell predicting outcomes of hematopoietic cell transplantation (SPRIGHT), incorporating multiple relevant pre-HCT features to make predictions of key post-HCT clinical outcomes. METHODS We applied a supervised random forest ML model to clinical parameters in a de-identified CIBMTR dataset of 1641 patients who underwent HCT 1991-2021 and followed for a median of 47.8 months (0.3-312.9). We applied forward and reverse feature selection methods to optimize a set of predictive variables. To counter the imbalance bias towards predicting positive outcomes due to the small number of negative outcomes we constructed a training dataset taking each outcome variable of interest, and performed a two-times repeated 10-fold Cross-Validation. SPRIGHT a web-based individualized prediction tool accessible by smartphone, tablet, or personal computer. It incorporates predictive variables of age, age group, Karnofsky/Lansky score, co-morbidity index, recipient CMV seropositivity, history of ACS, need for exchange transfusion, occurrence and frequency of vasocclusive crisis (VOC) before HCT, and either a published or custom chemotherapy/radiation conditioning, serotherapy, and GVHD prophylaxis. SPRIGHT makes individualized predictions of overall survival (OS), Event Free Survival (EFS), Graft Failure (GF), acute graft versus host disease (AGVHD), chronic graft versus host disease (CGVHD), occurrence of VOC or stroke post-HCT. RESULTS A web-based ML- prediction tool predicts key outcomes of HCT for SCD based on multiple clinically relevant predictors and has potential use in shared decision-making. CONCLUSIONS A web-based ML- -prediction tool predicts key outcomes of HCT for SCD based on multiple clinically relevant predictors and has potential use in shared decision-making. CLINICALTRIAL Not Applicable. This is not a clinical trial

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Parental perspective on the risk of infertility and fertility preservation options for children and adolescents with sickle cell disease considering hematopoietic stem cell transplantation

Cited by 4 publications

References 36 publications

Fertility, family building, and contraception in adolescents and young adults with sickle cell disease: a scoping review

Fertility, family building, and contraception in adolescents and young adults with sickle cell disease: a scoping review

“Being alone for a whole year [is hard]” Families reflect on the emotional toll of stem cell transplantation for sickle cell disease

Machine-Learning Predictive Tool for the Individualized Prediction of Outcomes of Hematopoietic Cell Transplantation for Sickle Cell Disease: A Registry Based Study (Preprint)

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