National Institutes of Health Resources
The National Institutes of Health and National Center for Advancing Translational Sciences offer a wide range of information, resources, and services for patients and families. Many of these are dedicated to engaging the patient community throughout the translational science process:
The Genetic and Rare Diseases Information Center (GARD) from NIH’s National Center for Advancing Translational Sciences has easy-to-understand information about rare or genetic diseases. You may also call 1-888-205-2311 (toll-free) to talk to a GARD information specialist.
The NCATS Toolkit for Patient-Focused Therapy Development has a collection of online resources that can help patient groups advance medical research for rare diseases.
The Rare Diseases Registry Program from NIH’s National Center for Advancing Translational Sciences offers online resources for patient groups on setting up and managing a successful registry.
The Undiagnosed Diseases Network (UDN) is a research study funded by NIH that aims to improve the diagnosis and care of patients with undiagnosed diseases. You can contact the UDN Coordinating Center at UDN@hms.harvard.edu or 1-844-746-4836 (toll-free).
ClinicalTrials.gov has information about clinical studies at NIH and other institutions that are currently enrolling patients. For more information on studies conducted at NIH, contact the Patient Recruitment and Public Liaison Office at prpl@mail.cc.nih.gov or 1-800-411-1222 (toll-free).
Rare Diseases Community Resources: NCATS offers free materials and resources to help patients, caregivers, patient support organizations, healthcare providers, and scientists learn about rare diseases and help advance research.
The Rare Diseases Registry (RaDaR) Program defines best practices for developing patient registries.
Learn about FDA Patient Engagement: Understand the different opportunities in which patients and caregivers can get involved.
COVID-19 Resources
Brain Vascular Malformation Consortium (BVMC)
- Ongoing: Cure HHT shares a continuously updated COVID-19 resources webpage for people with Hereditary Hemorrhagic Telangiectasia (HHT), their families and loved ones, and healthcare professionals.
Brittle Bone Disorders Consortium (BBD)
- 3/26/2020: The Osteogenesis Imperfecta Foundation hosted a COVID-19 Q&A: Orthopedic Perspectives on OI during the COVID-19 Pandemic with OI experts featuring Dr. Jill Flanagan of Children’s Healthcare of Atlanta; Dr. Jeanne Franzone of Nemours/Alfred I. duPont Hospital for Children; and Dr. Maegen Wallace of Children’s Hospital & Medical Center, Omaha. Download the full transcription of this recording.
- 3/26/2020: The Osteogenesis Imperfecta Foundation hosted COVID-19 Q&A: Mental Health and Self-care with Dr. Kara Ayers of the University of Cincinnati and Dr. Michelle Fynan of the LA Film School. The Q&A focuses on mental health and self-care considerations for the OI community during the COVID-19 pandemic. Download the full transcription of this recording.
- 3/19/2020: The Osteogenesis Imperfecta Foundation hosted a COVID-19 Q&A with Dr. Robert Sandhaus of National Jewish Health and Dr. Francis Glorieux of the OIF’s Medical Advisory Council. The Q&A provides information specific to the OI community about COVID-19 and how to keep safe and well. Download the full transcription of this recording.
Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)
- 3/30/2020: CEGIR shared a video message on COVID-19 from Dr. Marc Rothenberg of Cincinnati Children’s and Dr. Glenn Furuta of Children’s Hospital Colorado.
- 3/25/2020: Campaign Urging Research for Eosinophilic Diseases (CURED) shared an infographic with CEGIR telemedicine recommendations, guidance for patients with asthma, and patient support contacts.
- 3/24/2020: The Cincinnati Center for Eosinophilic Disorders at Cincinnati Children’s provided information for patients about COVID-19, including appointment changes, information on eosinophilic diseases and COVID-19, and guidance for research participation.
Developmental Synaptopathies Consortium (DSC)
- Ongoing: The Tuberous Sclerosis Alliance shares a continuously updated COVID-19 and tuberous sclerosis complex resources webpage for people with TSC, their families and loved ones, and healthcare professionals.
- Ongoing: The Tuberous Sclerosis Alliance and its Science and Medical Committee, drawing on opinions from key leaders in TSC clinical care, is sharing resources for medical professionals including considerations for how to answer questions from TSC patients about COVID-19 (3/17/20) and a prescription letter template (3/25/20).
- Ongoing: The PTEN Hamartoma Tumor Syndrome Foundation shares a continuously updated COVID-19 Resources and Information webpage for people with PTEN, their families and loved ones, and healthcare professionals.
- Ongoing: The Phelan-McDermid Syndrome Foundation shares a continuously updated COVID-19 Resources webpage to help the PMS community navigate this uncertain time. Resources focus on health, safety, and wellbeing, including official COVID-19 information links, distance learning materials, family activities, stress relief, and virtual connections.
Dystonia Coalition (DC)
- 4/1/2020: The Dystonia Medical Research Foundation (DMRF) and Dystonia Medical Research Foundation Canada (DMRFC) hosted a webinar, “Dystonia and the COVID-19 Virus — Your Questions Answered” on April 1, 2020.
Frontiers in Congenital Disorders of Glycosylation (FCDGC)
- 4/1/2020: CDG Care shared a COVID-19 Communication Rights Toolkit for patients with coronavirus who may need communications tools and supports due to speech-related disabilities.
- 3/13/2020: World CDG Organization shared a global statement on COVID-19 and Congenital Disorders of Glycosylation. The statement includes facts, symptoms, and frequently asked questions.
- 3/9/2020: FCDGC shared a statement regarding coronavirus and patients with CDG. The statement includes the FCDGC official recommendations to CDG families in response to COVID-19.
Genetic Disorders of Mucociliary Clearance (GDMCC)
- 3/30/2020: The PCD Foundation hosted a PCD Townhall on COVID-19 with Dr. Adam Shapiro (Montreal Children’s Hospital), Dr. Pamela McShane ( University of Texas Health Science Center at Tyler), Dr. Amjad Horani (St. Louis Children’s Hospital), and Dr. Anne Griffiths (Children’s Minnesota).
- 3/28/2020: The Primary Ciliary Dyskinesia (PCD) Foundation shared a COVID-19 newsletter with resources, answers to questions, and research updates.
Lysosomal Disease Network (LDN)
- Ongoing: The National MPS Society USA shares a continuously updated COVID-19 Information and Support webpage for the mucopolysaccharidoses (MPS) and mucolipidosis (ML) communities.
- 7/30/2020: LDN shared recent research from Spain suggesting that home-based infusion may be necessary to minimize patient exposure to COVID-19 in the clinic.
- 6/2/2020: The National Gaucher Foundation shared resources including COVID-19 tips, precautions, and a COVID-19 glossary for Gaucher patients and families.
- 5/13/2020: LDN shared research reviewing the impact of COVID-19 on patients with lysosomal disease, “Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience.”
- 5/12/2020: The Fabry Support & Information Group (FSIG) shared an Appointment Companion portal to help patients remotely inform Fabry care teams during the COVID-19 crisis about their treatment goals and challenges, browse clinical trials, and compare treatment centers.
- 4/23/2020: The National Tay-Sachs and Allied Diseases (NTSAD) Association released a statement on their website discussing their ongoing operations and available patient resources during the COVID-19 pandemic.
Myasthenia Gravis Rare Disease Network (MGNet)
- 3/23/2020: The International MG/COVID Working Group shared guidance for the management of Myasthenia Gravis (MG) and Lambert-Eaton Myasthenic Syndrome (LEMS) during the COVID-19 pandemic, including guidance on the use of therapies, participation in ongoing clinical trials, and considerations for patients who have contracted COVID-19.
- 3/19/2020: Dr. Hana Axelrod, Dr. Henry J. Kaminski, and Helen Girma of George Washington University hosted a webinar, Myasthenia Gravis and the COVID-19 Epidemic: Things for you to know.
NEPTUNE: Nephrotic Syndrome Rare Disease Clinical Research Network
- 3/16/2020: NephCure Kidney International shared a video of a COVID-19 germs experiment for kids. The video teaches kids about germs and why handwashing is especially important during the coronavirus pandemic.
Phenylalanine Families and Researchers Exploring Evidence (PHEFREE)
- 3/16/2020: The National PKU Alliance shares information for Phenylketonuria (PKU) patients and families concerning COVID-19, including a message from Dr. Cary O. Harding of Oregon Health and Science University, CDC guidance, and the status of medications and medical foods to treat PKU.
Porphyrias Consortium (PC)
- Ongoing: The American Porphyria Foundation shares a continuously updated COVID-19 and porphyria resources webpage in collaboration with the expert physicians of the Porphyrias Consortium and pharmaceutical partners.
- 3/24/2020: The American Porphyria Foundation shared a video message for the porphyria community regarding COVID-19. The video features Porphyrias Consortium expert Dr. Bruce Wang of the University of California San Francisco (UCSF). Dr. Wang reviews the effects of the virus on patients with porphyria and advises on preventative care measures.
Primary Immune Deficiency Treatment Consortium (PIDTC)
- Ongoing: The Immune Deficiency Foundation shares a continuously updated COVID-19 and primary immunodeficiency resources webpage with information that relates to the PI community.
Rett Syndrome, MECP2 Duplications, and Rett-related Disorders Consortium (RTT)
- Ongoing: Rettsyndrome.org shares a continuously updated COVID-19 resources and activities webpage to support families in the Rett syndrome community. These resources include at-home training sessions, enrichment activities, and webinars.
- Ongoing: Rettsyndrome.org shares blog updates from medical advisors for the Rett community. These updates include messages on medical care, clinic visits, clinical trials, and research-based resources.
Urea Cycle Disorders Consortium (UCDC)
- Ongoing: The National Urea Cycle Disorders Foundation (NUCDF) shares a continuously updated COVID-19 Resources for UCD Patients and Families webpage to provide credible resources and scientifically-based information.
- 4/14/2020: The National Urea Cycle Disorders Foundation (NUCDF) hosted a webcast, Living with UCD in a COVID-19 World, with Urea Cycle Disorders Consortium co-principal investigators Dr. Andrea Gropman (Children’s National Medical Center) and Dr. Sandesh Nagamani (Baylor College of Medicine), along with Cynthia Le Mons (NUCDF), to answer questions from UCD patients and families about COVID-19.
- 3/16/2020: The National Urea Cycle Disorders Foundation (NUCDF) has developed recommendations for patients titled COVID-19 Information for Patients with Urea Cycle Disorders and their Families.
Coalition of Patient Advocacy Groups Webinar Series
From July 2020 through January 2021, the RDCRN-CPAG will host a five-part, bi-monthly webinar series entitled, “Navigating the World of Rare Disease Clinical Trials from the Patient Perspective.” Please check back periodically for new postings.