PCORI Resources on Rare Disease
Advisory Panel on Rare Disease
Listings of PCORI-funded clinical effectiveness research projects, projects on coordination and engagement with the rare disease research community, and related resources.
Advisory Panel on Rare Disease
Journal Article Highlight
An overview of the impact of rare disease characteristics on research methodology
Whicher D, Philbin S, Aronson N. An overview of the impact of rare disease characteristics on research methodology. Orphanet J Rare Dis. 2018 Jan 19;13(1):14. doi: 10.1186/s13023-017-0755-5. Review. PubMed PMID: 29351763.
View more articles on rare disease here.
PCORI on Rare Disease: Watch all four videos
Research Projects
- A Comparison: High Intense Periodic vs. Every Week Therapy in Children with Cerebral Palsy (ACHIEVE)
- A Personalized Decision Aid to Help Women with Lupus Nephritis from Racially and Ethnically Diverse Backgrounds Make Decisions about Taking Immune-Blocking Medicines
- A Randomized Controlled Trial of Anterior Versus Posterior Entry Site for Cerebrospinal Fluid Shunt Insertion
- A Stakeholder-Driven Comparative Effectiveness Study of Treatments to Prevent Coronary Artery Damage in Patients with Resistant Kawasaki Disease
- Collaborative Assessment of Pediatric Transverse Myelitis: Understand, Reveal, Educate (CAPTURE) Study
- Community Health Workers and Mobile Health for Emerging Adults Transitioning Sickle Cell Disease Care (COMETS Trial)
- Comparative Effectiveness and Safety of Inhaled Corticosteroids and Antimicrobial Compounds for Non-CF Bronchiectasis
- Comparative Effectiveness of a Decision Aid for Therapeutic Options in Sickle Cell Disease
- Comparative Effectiveness of Peer Mentoring versus Structured Education-Based Transition Programming for the Management of Care Transitions in Emerging Adults with Sickle Cell Disease
- Comparative Effectiveness of Therapy in Rare Diseases: Liver Transplantation vs. Conservative Management of Urea Cycle Disorders
- Comparative Efficacy of Therapies for Eosinophilic Esophagitis
- Comparing Patient Centered Outcomes in the Management of Pain between Emergency Departments and Dedicated Acute Care Facilities for Adults with Sickle Cell Disease
- Comparing Strategies for Treating Juvenile Idiopathic Arthritis
- Comparing Treatments for Children with Crohn's Disease
- Decision Support for Parents Receiving Genetic Information about Child's Rare Disease
- Developmental Trajectories of Impairments, Health, and Participation of Children with Cerebral Palsy
- Engaging Parents of Children with Sickle Cell Anemia and their Providers in Shared-Decision Making for Hydroxyurea
- Engaging Patients and Caregivers Managing Rare Diseases to Improve the Methods of Clinical Guideline Development
- Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
- Evaluating Whether Oxygen Treatment Helps People with Pulmonary Fibrosis Breathe Easier
- 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
- Improving Trial Design and Analysis for Studying Treatments for Rare Diseases
- Intervention and Outcomes in Duarte Galactosemia
- Patient-Centered Comprehensive Medication Adherence Management System to Improve Effectiveness of Disease Modifying Therapy with Hydroxyurea in Patients with Sickle Cell Disease
- Posterior Fossa Decompression with or without Duraplasty for Chiari Type I Malformation with Syringomyelia
- Prospective Multicenter Observational Cohort Study Of Comparative Effectiveness of Disease-Modifying Treatments for Myasthenia Gravis (MG)
- Realization of a Standard of Care for Rare Diseases Using Patient-Engaged Phenotyping
- Relapsed Childhood Neuroblastoma as a Model for Parental End-of-Life Decision-Making
- Taking Charge of Systemic Sclerosis: Improving Patient Outcomes Through Self-Management
- The Impact of Self-Management with Probiotics on Urinary Symptoms and the Urine Microbiome in Individuals with Spinal Cord Injury and Spina Bifida
- Tools and Information to Guide Choice of Therapies in Older & Medically Infirm Patients with AML
- Treatment Alternatives in Adult Rare Disease; Assessment of Options in Idiopathic Subglottic Stenosis
Engagement in Research Projects
Awarded through the Engagement Awards Program
- 3q29 deletion families conference
- 2019 NEC Symposium
- Adult Experiences in Glut1 Deficiency
- ALGSA 2019 Symposium and Scientific Meeting
- Annual Cholangiocarcinoma Foundation Conference
- Arterial Turtuosity Syndrome PCOR/CER Summit Series
- ATS Patient Empowerment and Knowledge Symposium
- Building Capacity for PCOR/CER in the Neonatal NEC Community
- Building Momentum Through Congenital Muscular Dystrophy Stakeholder Participation
- Building Research Partnerships to Improve Sexual and Reproductive Health for Women with CF
- Cholangiocarcinoma Foundation 6th Annual Conference
- Cholangiocarcinoma Foundation: 2018 Annual Conference
- Cholangiocarcinoma Foundation Annual Conference
- Conference Wilms Tumor in WAGR Syndrome
- Clinical Effectiveness Research Prioritization for Children and Their Families Affected by Hepatoblastoma
- Deciphering Beckwith-Wiedemann Spectrum Conference
- Developing and Testing "Best Practices" in Training for Academic/Community Research Partnerships
- Discovering What Matters Most
- Disseminating Results: Missed SCD clinic appointments and the health belief model
- Engaging Virtually in the Age of COVID-19: Sharing Lessons and Creating Pathways for Transdisciplinary Research
- Engaging Patients in Outcomes Research in TANGO2-related disorder
- Expanding Engagement in Dravet Syndrome and Developing a Best Practice Paradigm for Other Rare Disease Communities
- Expanding Access to the Infusion Center Model for People Living with SCD
- FIRST (Females In Research Sharing and Translation)
- Functional Impacts of Resective and Disconnective Pediatric Epilepsy Surgery: Identifying Gaps & Setting PCOR Priorities
- Family & Science: Bidirectional Translation of Knowledge and Need in Sex Chromosome Aneuploidy
- Health and Research Ambassador (HARA) PCOR/CER Training Program
- IBEMC Stakeholder Network
- Improving Patient-Centered Outcomes: Expanding Engagement of the Osteogenesis Imperfecta Community
- Inborn Errors Of Metabolism Of Uncertain Clinical Consequence -- What Patients Really Want To Know
- It's Time to Talk! It's Time to Listen!
- KAND Scientific and Family Engagement Conference
- National Alopecia Areata Foundation Patient Support Conference
- Necrotizing Enterocolitis Symposium: A Transdisciplinary Approach to Improved NEC Outcomes
- Non-Cystic Fibrosis (CF) Bronchiectasis Patient Network and Research Roadmap
- Nontuberculous Mycobacteria Research Consortium Stakeholder Engagement and Planning Meeting
- Novel Stakeholder Engagement for Nemaline Myopathy, Patient Centered Research
- Pain in Cerebral Palsy
- Patient-Centered CMT/HNPP Pain Summit
- Patient-Empowering Outreach Seminar Series
- Patients Engagement to Reduce Zika Disease and Improve Maternal Child Health Blueprint for Research
- Patient and Stakeholder Alliance for SATB2-Associated Syndrome
- Patient Advisory Committee for Clinical Trials (PACCT+)
- PCOR Conferences: Charcot-Marie-Tooth (CMT) & Inherited Peripheral Neuropathies (IPN)
- PCOR Training: A Program for Rare Disease Patient Advocates
- Pediatric Renovascular Hypertension: A pRVH PCOR Collaborative
- PDSA ITP Patient Conference: Developing Patient-Centered Outcomes Research Framework and Priorities
- Phelan-McDermid Syndrome Patient-Centered Outcomes Workshop
- Rare Disease and Research Engagement (RaRE)
- Real World Data Research Readiness: Engaging the Prader-Willi Syndrome Community
- RUNX1-FPD Research Guided by Patients Initiative
- Stakeholder Alliance for Children with Robin Sequence (StARS): Building Capacity for PCOR
- Stakeholder Engagement in the Communication of Genetic Information in Phelan-McDermid Syndrome
- Stronger Together: Nonprofit Groups Propelling Patient-Driven Research of Rare Neuromuscular Diseases
- Tennessee Sickle Cell Disease Network
- The National Sickle Cell Advocate Network (NSCAN)
- The STRETCH Project: To Build Capacity Advancing Patient-centered Research in Ehlers-Danlos Syndrome
- The SWF Patient Engagement Conference
- Translation to Transform
- Turner Resource Network Symposium: Turner Science in the 21st Century
- Vascular Ehlers-Danlos Syndrome Patient-Centered Research Conference
- Women In Research Engaged while Distancing (WIRED)
Awarded through the Pipeline to Proposal Program
- Advancing Reproductive Health Wellness Between Patients with Cystic Fibrosis, Their Caregivers, Healthcare Providers, and Researchers
- Bridging Rare Disease Patients and Data through Novel Research Partnerships
- Building a Patient-Centered Care Network for MRKH
- COMPASS: COMmunity Participation to Advance the Sickle cell Story
- Community Engagement to Address Tuberculosis Infection in Persons Experiencing Homelessness
- Community Engagement to Improve Prevention and Treatment of Congenital Cytomegalovirus Infection
- Developing Comparative Effectiveness Research in Dravet Syndrome
- Establishing a Patient-Centered Research Community for Cystic Fibrosis
- Optimizing Palliative Care for Patients with Brain Cancer & Their Families
- Establishing the Ehlers-Danlos Co-morbidity Coalition
- MoPAC - Moving from Pediatric to Adult Care
- Vascular Ehlers-Danlos Syndrome Collaborative
- We'll Take the Village: Engaging the Community to Better Health
Posted: April 27, 2017; Updated: April 21, 2021
