The APS Type 1 (APECED) community is very fortunate to collaborate with the National Institutes of Health (NIH) in Bethesda, Maryland. Since 2012, Dr. Lionakis and his dedicated team of clinicians and researchers have seen more 170 APS Type 1 patients from more than 11 states and 22 countries.
This natural history study, which has enrolled the largest cohort of APS Type 1 patients in the world, has been invaluable to our community in countless ways:
- Further characterizing disease progression
- Shortening time to diagnosis
- Developing new therapeutic approaches
- Collaborating with patients’ local doctors and caregivers
PUBLICATIONS FROM THE STUDY
Because of the incredible participation from our patients and families and the commitment and dedication of Dr. Lionakis and his team, the NIH Natural History Study has resulted in several important publications and developments in the diagnosis and treatment of APS Type 1.
Name of Protocol
The Natural History, Immunologic Correlates and Genetic Defects in Patients With Mucocutaneous and Invasive Fungal Infections
Sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
Primary Investigator
Michail S. Lionakis, M.D.
Protocol Details
Clinical Trials Number
NCT01386437
Enrollment & Eligibility
For enrollment and eligibility information, please contact:
Heather Moorman, MSPH, BSN, RN, CCRP
Nurse (Research Specialist) NIH/NIAID/LCIM
10 Center Drive, Room 11C120
Bethesda, MD 20892
E-mail: heather.moorman@nih.gov
Phone: 301-443-8341
Fax: 301-480-3759
Joseph Pechacek, MD MS
Email: joseph.pechacek@nih.gov
Phone: (240) 236-9624
Taura Webb, CRNP
Email: taura.webb@nih.gov
Phone: (301) 496-8985
Michail S Lionakis, M.D.
Email: lionakism@mail.nih.gov
Phone: (301) 443-5089
Patients & Caregivers
For questions about the patient and caregiver experience, please contact us.
Other NIH Studies
For information about other NIH studies, please visit clinicaltrials.gov.
