Rare Daily Staff

Invitae said it is expanding its network of rare and ultra-rare patient registries to include five additional collaborations with leading advocacy groups across a variety of genetic conditions.

The genetic information company said its Patient Insights Networks program is designed to empower patients to be active participants in their networks and further expand Invitae’s work to connect patients with rare genetic disorders to research, clinical trials, and information on managing their condition.

The networks are intended to provide patients with greater ability to contribute and control their own data than traditional registries and amplify the impact that data can have for other patients, clinicians, and researchers. Patient Insights Networks build data sets of symptoms, history, diagnostic journey, quality of life, and cost of living with serious health conditions.

Patients, advocates, clinicians, and researchers have access to the de-identified data and research-ready patient communities to drive insights that can improve care, increase access to clinical trials, and accelerate treatment development. Invitae’s program currently covers more than 400 different health conditions.

“Having access to information on clinical experience and outcomes continues to help improve care for patients and accelerates access to clinical trials for both patients and researchers. These networks are making a powerful contribution to advancing our understanding of diseases, particularly in rare disorders.” said Robert Nussbaum, chief medical officer of Invitae. “We’re proud of our collaborations with these organizations and their membership to empower patients and help advance research and improve support for people living with these rare conditions.”

No Stomach For Cancer, a leading research and advocacy organization focused on stomach cancer, is leading the lauch of the first of these Invitae networks. Known as the Global Gastric Cancer Registry, the program enables patients, advocates, clinicians and researchers to share and access deidentified data on a number of different stomach cancers, including Diffuse Gastric Cancer, Proximal Stomach Cancer and Noncardia (Distal) Stomach Cancer.

The other advocacy groups expected to be launching registries in collaboration with Invitae include:

  • The Bow Foundation will be launching a registry for patients with GNAO1 disorders, an ultra-rare pediatric genetic condition that causes developmental delays and neurological symptoms impacting fewer than 100 people worldwide.
  • The National Tay Sachs & Allied Diseases Association will create a registry aimed at gathering data on the GM2 Gangliosidoses, rare neurodegenerative lysosomal storage disorders such as Tay Sachs disease and Sandhoff disease.
  • The RASopathies Network will launch a network aimed at gathering information across a number of rare genetic conditions associated with genetic variants in the Ras-MAPK pathway, that cause developmental delays, heart defects and neurologic problems.
  • The Spastic Paraplegia Foundation is creating a network for families impacted by Hereditary Spastic Paraplegia or Primary Lateral Sclerosis, a group of rare primary upper motor neuron disorders that cause progressive spasticity (stiffness) and weakness of the leg and hip muscles.

“Two of the many important ways we can help patients and families facing stomach cancer are to connect them with research opportunities and to help them better understand their condition,” said Jon Florin, executive director at No Stomach For Cancer. “Our registry program will help the global gastric cancer community by better characterizing how stomach cancer is currently treated through patient provided outcomes, as well as by connecting researchers with patients who may benefit from new therapies.”

March 22, 2018
Photo, Robert Nussbaum, chief medical officer of Invitae