Research Study Opportunities

As part of our mission to foster research about LDS, the LDSF is pleased to offer the opportunity to participate in and help fund research initiatives that can range from basic science and the natural history of LDS to psychosocial and emotional issues. Your experiences, thoughts and feedback help researchers, physicians and families learn more about the history and treatment of LDS. As well, research results help the LDSF to develop educational resources to meet the needs of those impacted by LDS.

Research that is advertised and/or promoted through the LDSF has been reviewed by the LDSF Board of Directors and Medical Advisory Council and has approval through Institutional Review Boards of the primary investigator's affiliation. We invite you to take a look at opportunities available through the LDSF.

 

NIH Study on Loeys-Dietz

Dr. Pamela Guerrerio at the National Institutes of Health (NIH) is conducting a research study to learn more about Loeys-Dietz Syndrome and other related genetic syndromes, including Shprintzen-Goldberg syndrome.

Evaluations may involve consultations with specialists (from Allergy, Immunology, Endocrine and Bone Health, Dentistry, Craniofacial Team, Occupational and Physical Therapy, Adult Gastroenterology, and/or Pain and Alternative Medicine) and may include a blood draw, answering questionnaires, and radiology studies.

Patients will not be charged for any service offered, and medical insurance is not required. The NIH will pay for travel and accommodations for any necessary follow-up evaluations. Interested patients should contact Caeden Dempsey by This email address is being protected from spambots. You need JavaScript enabled to view it. to learn more about the study.

 

Pregnancy Study

Are you a woman with LDS who has been pregnant or given birth? Did you have a female family member with LDS who passed away and had children? Whether successful or complicated pregnancies, Dr. Melissa Russo, Dr. Jennifer Pardo Habashi and their research team at Johns Hopkins University would like to hear from you. Your experience and that of loved ones will help inform guidance for women with LDS who may want to have children.

The study will ask about genetic diagnosis, aortic dimensions pre- and post- pregnancy, management of pregnancies, complications and breast feeding history. For those reporting on a family member, the survey requests just basic information about timing and type of complications. Even if the family member passed away years after pregnancy and of unrelated reasons, this information is still important.

To participate, fill out the online survey at http://www.surveymonkey.com/s/CTDpregnancy.  Please note, the online survey cannot be saved midway, so please allow 30 to 60 minutes to complete it, depending on number and complications of pregnancies to report. If you’d prefer a hard copy by mail, please contact Dr. Melissa Russo at This email address is being protected from spambots. You need JavaScript enabled to view it..

 

Foot Research

The Orthopedic department at the Johns Hopkins Hospital is looking to learn more about foot/ankle problems in individuals with Loeys-Dietz syndrome. The Orthopedic department is conducting a brief survey, with possible review of medical records. The opinions of LDS patients, both with and without foot problems, are valuable. The study, a brief questionnaire and release of medical records, can be found by clicking here**.  

Questions can be directed to Lara Atwater and the questionnaire can be returned via email (This email address is being protected from spambots. You need JavaScript enabled to view it.This email address is being protected from spambots. You need JavaScript enabled to view it." shape="rect" target="_blank">) or by mail to:

Department of Orthopaedic Surgery - Johns Hopkins Hospital
Attn: Lara Atwater/ Dr. Paul Sponseller
601 N. Caroline Street, Room 5161
Baltimore, MD  21287

**please note, the consent form has Thomas Kim contact information. He is no longer working on this study. Please send to Lara Atwater instead.

 

Spondylolysis and Spondylolisthesis (lumbar spine disease) in Loeys-Dietz syndrome:

The Orthopedic department at the Johns Hopkins Hospital is conducting a study of lumbar spine disease in individuals with Loeys-Dietz syndrome. They have previously established a link of cervical spine disease which had significant impact on current medical standard of care.  We hope to further identify lumbosacral spine issues to improve screening and treatment. They are looking for individuals who have ever had spinal x-rays or CT. Contact David Kirby (This email address is being protected from spambots. You need JavaScript enabled to view it. or 410-502-6442) for participation.

 

Thank you for your consideration and support in trying to make further inroads into our understanding of Loeys-Dietz syndrome and related diseases.