Natural History Studies
Help us bring patients, families and researchers together to gain a
better understanding of Malan syndrome.
What is a natural history study?
A natural history study is a type of research study that collects detailed information from patients to characterize the signs and symptoms of a disease and how the disease evolves over time.
Why is it important?
The data can help to:
create a strong patient and research community
allow healthcare/researchers to learn more about the syndrome
develop standards of care
inform drug development
enable better data to use in clinical trials
The Malan Syndrome Foundation has partnered with several organizations with the goal to collect natural history information for individuals affected by Malan syndrome (NFIX gene variants).
Below is a table indicating the natural history studies for Malan syndrome. All three of these natural history studies complement each other to provide a more comprehensive and robust understanding of the disorder.
How can I participate?
The Malan Syndrome Foundation is partnering with RARE-X, a 501(c)(3) nonprofit, to build a Data Collection Program for Malan families. When you participate in the Malan Syndrome Data Collection Program, you’ll help accelerate research and the development of new drugs, devices, and other therapies.
The data collection program powered by RARE-X involves completing validated, standardized surveys that ask questions on ALL systems of the body, from "head to toe". Both international and US-based families can enroll; surveys will be available in multiple languages starting early 2023.
The Malan Syndrome Rare Patient Network powered by Ciitizen is a secure digital platform that organizes, summarizes and stores patient medical record information obtained from multiple hospitals and providers.
The information collected from the health records can help to inform a better understanding of Malan syndrome and further research toward potential treatments. All participants have access to their health records in Ciitizen and control who sees the information. Only US-based families can enroll at this time.
The Malan Syndrome Foundation partnered with Sanford CoRDS in 2019 to create a Malan syndrome registry. Participants will complete a questionnaire that has been developed specifically for Malan syndrome (disease-specific questionnaire). Both international and US-based families can enroll; surveys are available in English.
If you experience any issues with registering, please email firstname.lastname@example.org.