April 07, 2020

Connecting Rare Disease Patients and Families with Informational Resources on COVID-19

The patient advocacy groups that partner with the Rare Diseases Clinical Research Network are working to support rare disease patients and families during the COVID-19 pandemic. Collected here are several resources they have developed to support their patient and family communities. This post will be updated as new resources are added. To see which consortia study particular rare diseases, please visit our search tool.

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)

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)

Frontiers in Congenital Disorders of Glycosylation (FCDGC)

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)

Myasthenia Gravis Rare Disease Network (MGNet)

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)

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)

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)