Rare Daily Staff

RARE-X, a non-profit organization dedicated to enabling patient communities to easily manage, aggregate, and share their de-identified data securely, began onboarding patient organizations representing eleven rare diseases.

RARE-X’s goal is to provide a platform for patient organizations to share patient registries, natural history studies, genomic information, electronic health records, and other data with researchers, clinicians, and drug developers broadly and with appropriate governance. The platform is expected to speed the pace of medical discoveries and ease the burden on patients while enabling an ecosystem of discovery that will transform rare disease research.

Patients using RARE-X own their de-identified data and have complete control over who has access to it and how it is used. This approach reflects RARE-X’s core belief that it benefits everyone in the rare disease community when patients are empowered as data owners.

Patient organizations benefit from a common data collection platform accessible to researchers and drug developers anywhere in the world. These first group of patient organizations and affiliated rare diseases on the RARE-X platform include:

  • The Yaya Foundation for 4H Leukodystrophy – 4H Leukodystrophy
  • Hope for Annabel, Cure AHC, and AHC Foundation – AHC (Alternating Hemiplegia of Childhood)
  • BPAN Warriors, NBIA Disorders Association, Autour du BPAN, Stichting IJzersterk (Dutch NBIA Organization), Association BPAN France, Hoffnungsbaum e.V. – BPAN/WDR45 (Beta-Propeller Protein Associated Neurodegeneration)
  • CACNA1A Foundation – CACNA1A
  • CHAMP1 Foundation – CHAMP1 (Chromosome Alignment-Maintaining Phosphoprotein 1)
  • Coalition to Cure CHD2 – CHD2 (Chromodomain Helicase DNA Binding Protein 2)
  • DYRK1A Syndrome international Association – DYRK1A Syndrome (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A)
  • IDefine – Kleefstra
  • NAA10 Families Together – Ogden Syndrome (NAA10 -N-Alpha-Acetyltransferase 10 )
  • PKS Kids – PKS (Pallister-Killian mosaic syndrome)
  • Vici Syndrome Foundation – Vici Syndrome

“The ultimate hope is that there are commonalities and patterns in the aggregate datasets that go beyond the 4H community. It’s important to us that we, as a rare community, don’t sit in silos,” said Christina Butterworth, executive director of the rare disease patient advocacy organization Yaya Foundation for 4H Leukodystrophy, a rare neurodevelopmental disease. “What’s really compelling about RARE-X is that we get to combine, standardize, and make 4H data accessible on a platform for rare disease data sharing in the hopes of advancing, and even accelerating, discovery, diagnosis and treatments for the 4H community and beyond.”

Over the next six months, RARE-X will be preparing to launch its second group of patient data collection programs with patient community partners and is continuing to line up additional patient communities for the third group in Q1 2022.

“The RARE-X technology platform and other support services are free of charge to patient organizations,” said Megan O’Boyle, RARE-X patient engagement lead. “This removes the burden for patient groups to become data governance experts and raise additional funding for data collection tools. RARE-X’s patient engagement team members serve as allies, educators and partners as patients begin collecting data on the platform.”

Photo: Megan O’Boyle, RARE-X patient engagement lead

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