The LDSF is very proud to support clincial and basic science research into Loeys-Dietz syndrome. It is a huge part of our mission and we thank all our community who give financially and also participate in research to futher our knowledge about LDS.
Research and Updates
Information about the natural history and management of individuals with LDS continues to evolve.
Advances in medical and surgical care are continually being made to help decrease complications for those impacted by LDS. Initial studies reporting past medical histories of individuals with LDS revealed early ages for first cardiac surgery and for the average age of death. While these seem like frightening statistics, the cases presented in this study were representative of retrospective medical information.
In the recognition of a new syndrome, it is often the most severe cases that first come to medical attention. The first cases do not reflect the current rise in success in the treatment of individuals with LDS, including aggressive surgical intervention and comprehensive imaging. As more individuals are being diagnosed with LDS, we are seeing an incredible spectrum of clinical severity, and we are learning more about the natural history of LDS.
In families with more than one member having the same gene mutation responsible for LDS we see a variety of physical symptoms and vascular involvement. Although LDS is diagnosed most often in children, there has been a growing number of diagnoses in adults who are 50 and older.
Internationally, various institutions are developing methods to improve management and care of individuals diagnosed with LDS. As we increase awareness and education in the medical community regarding the physical findings associated with LDS, we hope diagnoses will be made earlier to continue to improve medical outcome.
It is expected that the outlook for individuals with LDS will continue to improve as more is learned about the disorder. We remain optimistic and enthusiastic about the development of effective therapies for Loeys-Dietz syndrome.
Because of the rarity and the newness of the disorder, there may be research opportunities available to help physicians and researchers learn more about the various complications. Continue to check the Research Recruitment page of our site for any available research updates.
Current Research Studies
NIH STUDY ON LOEYS-DIETZ Syndrome
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, Audiology, ENT, 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 email or phone (301) 761-7887 to learn more about the study.
Thank you for your consideration and support in trying to make further inroads into our understanding of Loeys-Dietz syndrome and related diseases.