Curative Versus Disease-Modifying Therapies in Children With Severe Sickle Cell Disease
Condition: Sickle Cell Disease
MeSH terms: Anemia, Sickle Cell
Study type: Observational

Summary: 
      The research proposed is a pilot study of pediatric and adolescent/young adult patients who
      have received the curative intervention (MSD-SCT), disease-modifying interventions (HU or CT)
      or SCC (control), with respect to three clinically important outcomes: quality-of-life (QOL),
      neurocognitive function, and reproductive potential. Comparable cohorts will be identified
      for each of the groups, drawing from patients treated by the SCD program of Children's
      Healthcare of Atlanta (CHOA). QOL measures and neuropsychiatric testing and will be
      administered. Reproductive endocrine function markers (laboratory studies and pubertal
      staging), will be collected and analyzed. A tracking system of such patients will also be
      developed, gathering available retrospective data and setting up a mechanism for collection
      of new data.
    

Detailed description: 
      sickle cell disease (SCD), but a significant proportion experience clinically severe disease
      requiring more aggressive intervention. Widely applicable curative therapy with a favorable
      toxicity profile remains elusive for such patients.

      Three distinct intervention strategies are currently available for children with severe
      sickle cell disease (SCD): oral hydroxyurea (HU), chronic blood transfusions (CT), and
      allogeneic hematopoietic stem cell transplantation (SCT) from an HLA-matched sibling donor
      (MSD). Each intervention has distinct advantages and disadvantages. Many patients do not
      receive specific intervention, and continue standard comprehensive care (SCC).

      Though indications for these therapies overlap, to date there are no comparative outcomes
      data, leaving families and physicians without adequate information upon which to base
      therapeutic decisions. The gold standard for obtaining such data would be a randomized,
      prospective study comparing each intervention, though this may or may not be feasible to
      conduct. Before such a trial is considered, a large cross-sectional trial should be conducted
      to establish comparisons among the four therapeutic groups (HU, SCT, CT, SCC) with respect to
      the outcomes that clinicians and families deem most important.

      The research proposed is a pilot study of pediatric and adolescent/young adult patients who
      have received the curative intervention (MSD-SCT), disease-modifying interventions (HU or CT)
      or SCC (control), with respect to three clinically important outcomes: quality-of-life (QOL),
      neurocognitive function, and reproductive potential. Comparable cohorts will be identified
      for each of the groups, drawing from patients treated by the SCD program of Children's
      Healthcare of Atlanta (CHOA). QOL measures and neuropsychiatric testing and will be
      administered. Reproductive endocrine function markers (laboratory studies and pubertal
      staging), will be collected and analyzed. A tracking system of such patients will also be
      developed, gathering available retrospective data and setting up a mechanism for collection
      of new data.
    

Intervention name(s): Quality of Life measures
Intervention type(s): Behavioral
Intervention description(s): measuring QOL with different therapies