We have some exciting news! We have told you all about the next steps for awhile - creating a registry to gather names of individuals who have this disorder. We found out this week that the registry has been created! Such exciting news for Dr. Huang's team and this foundation!!

Below is a link to the registry.

https://register.clinicaltrials.gov

ClinicalTrials.gov Identifier: NCT04594590

Below is a medical history questionnaire that will need to be completed and mailed to Dr. Huang’s attention at the address below or can be emailed.

 Medical History Questionnaire for “Natural History Study of SLC25A46 Mutation-related Mitochondriopathy”

The following is a sample of the medical history that will be requested should you agree to participate. Please do not forward any information until you have contacted the study officials and provided formal consent to participate in this study. For more information, please contact the primary study official using the contact information below:

 Study Contact: Taosheng Huang, MD, Ph.D.       

Address: 1001 Main Street, Room 5116

                 Buffalo, NY 14203

Email: thuang29@buffalo.edu

Phone: 716-323-0041                     

Fax: 716-323-0292

I. PATIENT INFORMATION

Date of visit: ___________________________

Patient Name:______________________________                         

Gender: _______________________________

Age: _________________

Date of birth: _______________

Mother’s Name (if patient is under 18): ____________________________

Father’s Name (if patient is under 18): _____________________________

II. STUDY-RELATED MEDICAL HISTORY

III. GENERAL MEDICAL HISTORY