Studies

Development of a Self-Help Program for Children with Barth Syndrome

We are a research team at Binghamton University conducting survey research to develop a self-help
program to promote participation in everyday activities for children with Barth syndrome at home,
at school, and in community settings. We are inviting up to 25 parents of children with Barth
syndrome to participate in this study. Parents will receive a $50 gift card as compensation for
completing the study surveys.

Who can participate?
Parents of children with Barth syndrome:

1. Their child’s age is between 7 and 17
2. Speak English

What will you be asked to do?
Parents will complete three online questionnaires about their child’s ability to take care of
themselves and their child’s level of fatigue in daily life. Their child’s participation is optional. If
their child chooses to participate, they will complete two questionnaires with the researcher via
Zoom, asking about their daily activities and what matters most to them. An additional $30 gift card
will be provided for the child’s participation.

Should you choose to participate in this study, please contact:
Principal Investigator: Yoonjeong Lim, PhD, OTR/L
Email: ylim3@binghamton.edu
Phone: 607-777-4861

Please review the link here for more details about the research and your rights as a participant.

This study has been reviewed and approved by Binghamton University’s IRB.

Clinical Trial for People with Chronic Neutropenia

A global clinical research study called the 4WARD Study is now enrolling people living with chronic neutropenia (CN). 

The 4WARD Study is a Phase 3 study, or clinical trial. The goal of the 4WARD Study is to learn more about the oral investigative study medicine, mavorixafor. The study will evaluate if mavorixafor may increase neutrophil cell counts, may decrease the chance of getting infections and is safe and well tolerated.   

You may be eligible to join the study if you: 

• Are age 12 and over
• Are diagnosed with chronic neutropenia (including congenital, acquired primary autoimmune, and idiopathic chronic neutropenia)
• Are taking or not taking any treatment for your chronic neutropenia, including granulocyte colony-stimulating factor (G-CSF)
• Meet other study requirements. Talk to your doctor to find out if this study is an option for you.
• Chronic neutropenia is a disease with few treatment options. More treatment options are needed. By volunteering to join a study, you can help researchers learn more about chronic neutropenia.  

Chronic neutropenia is a disease with few treatment options. More treatment options are needed. By volunteering to join a study, you can help researchers learn more about chronic neutropenia.  

Visit 4WARDStudy.com to learn more. 

Experiences of females with X-linked conditions on in vitro fertilization for preimplantation genetic testing for monogenic conditions

Are you a female with an X-linked condition? Have you talked to a healthcare provider about in-vitro fertilization (IVF)? If so, we invite you to participate in our study! We want to understand the goals of females with X-linked conditions exploring IVF with preimplantation genetic testing

Investigators
Rachel Denham and Olivia Maher Trocki

Background
This is a study being conducted at the MGH Institute of Health Professions. This study explores the experiences and perspectives of females with an X-linked condition on in vitro fertilization (IVF) for preimplantation genetic testing (PGT).

What will you be asked to do
Participants will be asked to fill out a survey of basic questions about their experience with an X-linked condition, and their experience with exploring the option of IVF with a healthcare provider. The survey will take about 15-20 minutes to complete.

Who can participate
If you meet all the criteria below, you are eligible!

• Been diagnosed with or identified to be a carrier of an X-linked genetic Condition
• Discussed the option of IVF with a healthcare provider in the past
• Assigned female at birth
• Are 18 years of age or older
• Live in the United States

Contact the study team at Rachel Denham, Genetic Counseling Student, rdenham@mghihp.edu.

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

Barth Syndrome Collaborative Registry

Investigators
Drs. Reina Tan and Colin Phoon

Participants Needed!
Have you or your loved one recently been diagnosed with Barth syndrome? NYU Langone Medical Center in NYC is recruiting participants for an ongoing registry to investigate the effects of Barth syndrome on heart arrhythmias. As it is a living registry, it will be running for 10 years unless you decide to opt out.

What will you be asked to do
Volunteers will be asked to wear a Holter monitor for 14 days, and will be asked lifestyle questionnaires yearly.

Who can join?
We are looking for English speaking volunteers of all age groups who were or have newly been diagnosed with Barth syndrome. 

Contact the study team at: 
PI: Reina Tan, M.D.
Reina.Tan@nyulangone.org
646-988-8603

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