Table 3 PCORI Rare Disease Portfolio: Study Designs and Analytic Techniques
From: An overview of the impact of rare disease characteristics on research methodology
Project Title (Condition in Bold) | Study Design | Analytic Technique |
|---|---|---|
Home or Away from Home: Comparing Clinician and Patient/Family-Centered Outcomes Relevant to the Care of Pediatric Acute Myeloid Leukemia during Periods of Neutropenia | Retrospective and prospective observational cohort (Also has a qualitative focus group component) | Propensity score analysis; regression analysis (linear mixed effect models); thematic qualitative analysis |
Intervention and Outcomes in Duarte Galactosemia | Case-control observational | Standard Multivariate analysis; generalized estimating equations |
Treatment Alternatives in Adult Rare Disease; Assessment of Options in Idiopathic Subglottic Stenosis | Prospective observational cohort | Standard multivariate analysis; survival or Kaplan Meier Analysis |
Collaborative Assessment of Pediatric Transverse Myelitis: Understand, Reveal, Educate (CAPTURE) Study | Prospective observational cohort | Propensity scores; sensitivity analysis; mixed effects linear models |
The Impact of Self-Management with Probiotics on Urinary Symptoms and the Urine Microbiome in Individuals with Spinal Cord Injury (SCI) and Spina Bifida (SB) | Prospective observational cohort | Linear mixed-effects modeling |
Anti-TNF Monotherapy versus Combination Therapy with Low Dose Methotrexate in Pediatric Crohn’s Disease | Randomized, double-blind, multicenter pragmatic clinical trial | Standard multivariate analysis; Survival or Kaplan Meier Analysis |
Comparative Effectiveness of CARRA Treatment Strategies for Polyarticular Juvenile Idiopathic Arthritis | prospective observational cohort | Bayesian Analytic Approach, including logistic regression model, sensitivity analysis, linear mixed effects model |
Comparative Effectiveness of a Decision Aid for Therapeutic Options in Sickle Cell Disease | RCT; Also descriptive observation study | Specifics not discussed in app. Endpoints for RCT include decisional process and decisional bias |
Patient Centered Comprehensive Medication Adherence Management System to Improve Effectiveness of Disease Modifying Therapy with Hydroxyurea in Patients with Sickle Cell Disease | RCT | Linear mixed effects regression models |
Comparing patient centered outcomes in the management of pain between emergency departments and dedicated acute care facilities for adults with sickle cell disease | prospective observational cohort | Multilevel regression modelling - Propensity scores |
Posterior fossa decompression with or without duraplasty for Chiari type I malformation with syringomyelia. | Cluster-RCT | Plan to use weighted analyses if there is a balance in prognostic factors; Heterogeneity of Treatment Effect (exploratory analysis) |
Relapsed childhood neuroblastoma as a model for parental end-of-life decision-making | Prospective longitudinal cohort study (multicenter)/nested case-control study | Standard multivariate analysis; nested case control analysis; |
Taking Charge of Systemic Sclerosis: Improving Patient Outcomes Through Self-Management | RCT | Standard univariate and multivariate analysis |
Comparative Efficacy of Therapies for Eosinophilic Esophagitis | RCT | Sensitivity analysis; heterogeneity of treatment effect analyses; standard multivariate techniques |
Decision Support for Parents Receiving Genetic Information about Child’s Rare Disease | Prospective observational cohort | Thematic Analysis (of interviews, focus groups, surveys) |
Individualized Patient Decision Making for Treatment Choices among Minorities with Lupus | RCT | Regression Analysis |
Tools and Information to Guide Choice of Therapies in Older & Medically Infirm Patients with Acute Myeloid Leukemia | Prospective observational cohort | Sensitivity Analysis; Propensity Scores; survival-Kaplan modeling; heterogeneity of Treatment Effect |
Comparative effectiveness of therapy in rare diseases: Liver transplantation vs. conservative management of urea cycle disorders. | Prospective observational cohort with retrospective components | Propensity scores, survival or Kaplan Meier Analysis |
A randomized controlled trial of anterior versus posterior entry site for cerebrospinal fluid shunt insertion (hydrocephalus) | RCT | Survival-Kaplan Model; Regression Analysis |
Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients (Genetic Diseases) | Randomized, single-blinded pre-post intervention trial with crossover | Regression Analysis |
Comparative effectiveness and safety of inhaled corticosteroids and antimicrobial compounds for non-CF bronchiectasis | Retrospective observational cohort | Propensity scores; survival or Kaplan Meier Analysis |
A Comparison: High Intense periodic vs. Every week therapy in children with cerebral palsy | RCT | Linear mixed modeling; multivariate linear regression; sensitivity analysis |
Developmental Trajectories of Impairments, Health, and Participation of Children with Cerebral Palsy | Prospective longitudinal cohort | Cluster analysis; linear and non-linear mixed effects modelling; |
A stakeholder-driven comparative effectiveness study of treatments to prevent coronary artery damage in patients with resistant Kawasaki disease. | RCT | Fisher’s exact test; sensitivity analysis; mixed model repeated measures |