PCORI on Rare Disease: Watch all four videos
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
Blogs, Feature Stories, Videos & Other Resources
Blogs
- Changing the Landscape of Rare Disease Research (February 2018)
- Informing Patients with a Rare Disease About Their Treatment Options (February 2017)
- Big Data versus a Rare Disease (November 2016)
- Patient-Centered Approaches to Sickle Cell Disease (September 2016)
- How Patient-Centered Outcomes Research Helps Families with Rare Diseases (February 2016)
- PCORI's Focus on Rare Diseases: Progress over the Past Year (February 2015)
- Making Small Numbers Add Up: The Challenge of Studying Rare Diseases (February 2014)
PCORI Stories
Videos (PCORI on Rare Disease)
- PCORI Advisory Panel on Rare Disease
- How I Became Involved in Research
- Creating Collaboration for Rare Disease Research
- What Can Big Data Do for Rare Disease Research?
PCORI Research Topic & Spotlight
Research Projects
Studies with a rare disease condition focus
- 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
Explore other research projects in PCORI's portfolio
Engagement in Research Projects
Awarded through the Engagement Awards Program
- 2019 NEC Symposium
- Adult Experiences in Glut1 Deficiency
- Annual Cholangiocarcinoma Foundation Conference
- Arterial Turtuosity Syndrome PCOR/CER Summit Series
- 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
- Developing and Testing "Best Practices" in Training for Academic/Community Research Partnerships
- Discovering What Matters Most
- 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
- Family & Science: Bidirectional Translation of Knowledge and Need in Sex Chromosome Aneuploidy
- Health and Research Ambassador (HARA) PCOR/CER Training Program
- IBEMC Stakeholder Network
- 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
- PDSA ITP Patient Conference: Developing Patient-Centered Outcomes Research Framework and Priorities
- Phelan-McDermid Syndrome Patient-Centered Outcomes Workshop
- Real World Data Research Readiness: Engaging the Prader-Willi Syndrome Community
- 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
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
Explore other engagement in research projects in PCORI's portfolio.
Posted: April 27, 2017; Updated: April 2, 2019