Our mission at BSF is to save lives through education, advances in treatments, and finding a cure for Barth syndrome.
A fundamental step towards accomplishing this goal is the participation of our community and affected individuals in clinical trials and human subjects research. Although we encourage participation in research, we stress that it is always the individual's choice to engage and participate in research.
On this page, we will provide relevant information about clinical trials and human subjects research related to Barth syndrome that is open to recruitment, alongside the contact information and recruitment flyers provided by researchers and their institutions.
If you have question about specific studies below, please reach out to the study investigator or coordinator. For general questions and comments about research, please reach out to lindsay.marjoram@barthsyndrome.org or melissa.huang@barthsyndrome.org
DEVELOPMENT OF A SELF-HELP PROGRAM FOR CHILDREN WITH BARTH SYNDROME
Investigators: Dr. Yoonjeong Lim
Background: We are a research team at Binghamton University conducting a study on the development of a self-help program to promote participation in everyday activities for children with Barth syndrome across home, school, and community settings.
What will participants be asked to do: You will be asked to complete online questionnaires about your child’s self-help abilities, movement and coordination abilities, as well as participate in an interview to share your child’s experiences in daily activities.
Who may qualify for participation:
• Have a child with Barth syndrome with no severe physical disabilities
• Speak English
Contact Information:
Yoonjeong Lim, PhD, OTR/L
Email: ylim3@binghamton.edu Phone: 607-777-4861
SEVERE CHRONIC NEUTROPENIA INTERNATIONAL REGISTRY
Investigators: Drs. Akiko Shimamura and Peter Newburger
The Severe Chronic Neutropenia International Registry (SCNIR) at Boston Children’s Hospital is recruiting children and adults with severe chronic neutropenia or a related condition (like Barth syndrome) and reconsenting participants previously enrolled at the University of Washington.
Background: Severe chronic neutropenia (SCN) is a rare condition, so information about SCN is scarce. More information is needed to improve the diagnosis and treatment of children and adults with SCN. The SCNIR provides a way for any patient with SCN or a related condition to share their information, experiences, and samples with researchers working to find the best treatment for SCN.
Who may qualify for participation:
• Those who previously were enrolled in the SCNIR at the University of Washington
• Children and adults with severe chronic neutropenia or a related condition
Participation involves:
• Providing medical and demographic information via medical records
• Filling out surveys about physical and emotional wellbeing, self-image, and healthcare
• Providing samples of blood, bone marrow, tissue samples when they are being drawn as part of clinical care
• Optional: Those >18 years of age may be asked to provide blood samples or skin samples for research purposes outside of clinical care
Contact Information:
Karyn Brundige at SCNIR-dl@childrens.harvard.edu
Phone: 617-919-1574
On-site Research at the Barth Syndrome International Conference
The Barth Syndrome International Conference, is the largest in-person gathering of affected individuals worldwide. There are many benefits to this gathering including community building and the sharing of scientific data. One additional benefit is that scientists passionate about Barth syndrome research can conduct on-site studies. On-site research provides an opportunity for affected individuals and their families to participate in clinical studies and human subjects research, which enable the scientific community to collect data, further our understanding of the disorder and potentially contribute to new clinical or therapeutic findings.
If you are a Barth syndrome affected individual or a family member, you may qualify to participate in studies taking place at future Barth Syndrome International Conferences.
For 2026, applications for onsite research are being accepted on a ROLLING basis until room availability is filled, rooms are extremely limited and PIs are encouraged to apply ASAP. Please fill out an application here.
Last updated: May 2024
