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Saving lives through education, advances in treatment and finding a cure for Barth syndrome

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Frequently asked questions

What is a patient registry?

A patient registry is a list of individuals with a specific medical condition and their associated medical data. Having a registry helps build a fuller picture of the medical condition and stimulates research and clinical advances.


What is a repository and why is it important?

A repository is a carefully maintained, secure collection of bio specimens (blood, DNA, skin, cell lines and relevant tissue) to be used in research. These samples can be linked with information such as demographic or medical data from the individual in the registry and from whom the bio specimen was collected.


How does a patient-entered registry work?

Individuals and families enter much of their own data on-line (through a special, highly secure portal) so that the medical data are kept up-to-date. Also, patients and families will receive regular reports showing how their data compares to other data in the registry.


Who or what is the National Institutes of Health (NIH)?

NIH, based in the USA, is the largest source of funding for medical research in the world. NIH is made up of 27 Institutes and Centres, each with a specific research agenda, often focusing on particular diseases or body systems.


For over a century, NIH scientists have paved the way for important discoveries that improve health and save lives. In fact, more than 130 Nobel Prize winners have received support from NIH. Their studies have led to the development of MRI, understanding of how viruses can cause cancer, insights into cholesterol control, and knowledge of how our brain processes visual information, among dozens of other advances.


What is the Global Rare Diseases Patient Registry and Data Repository (GRDR)?

GRDR provides the rare disease community (patients, researchers, clinicians) with a resource by collecting the pan-disorder information needed to accelerate research and therapeutic advances.


The goal of GRDR is to enable analyses of data across many rare diseases and to facilitate clinical trials and other studies.


What is a PI? What is his/her role?

The Principal Investigator (PI) holds ultimate responsibility for the design, conduct, and management of the Barth Syndrome Registry and Repository (BRR). Our BSF Science Director, Matt Toth, PhD is the PI for the BRR.


What is an IRB?

An Institutional Review Board (IRB) is charged with protecting the rights and welfare of people participating in research.


What is a Western IRB (WIRB)? What are the advantages?

It is an alternative to obtaining an IRB through an academic institution. WIRB is well-regarded and provides in-depth regulatory expertise to support the development of research protocols and documentation. Choosing WIRB over an outside PI’s own institution’s IRB provides our families with security, is more flexible and saves time, resources and money.


What can we expect from the new Barth Syndrome Registry (BRR)?

  • More knowledge about Barth syndrome
  • More research studies into Barth syndrome, with more published papers
  • A faster, streamlined system which accelerates the pace of research
  • Greater statistical power and validity in research findings from our large, representative sample
  • Improved treatments and clinical care guidelines
  • Greater awareness with a resultant increase in fast and accurate diagnosis
  • Cross pollination with other forms of cardiomyopathy, skeletal myopathy, and neutropenia. The BRR will be of great value to researchers who are studying not only Barth syndrome, but the common molecular pathways in cardiomyopathy and other cardiovascular disorders.
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