NIH Research & Myhre Syndrome

A common question is whether people with Myhre syndrome have an associated immunity problem. 

We know many get colds or ear infections, but at present, a consistent immune defect has not been discovered. The NIH is conducting a study to understand how the immune system is affected in patients with Myhre syndrome.

Participation in the study involves a visit to the NIH campus in Bethesda, MD, where researchers will review your past medical history and perform a detailed history focusing on the immune system (e.g., allergies, infections, etc).

In addition, you will have a blood drawn to evaluate how the different parts of your immune system are functioning, including how well you respond to vaccines, including the COVID-19 vaccine.

All the testing is done free of charge as part of the study and the information obtained is not released to other providers without your consent. THe NIH will provide travel assistance based on your financial situation.

If you are interested in enrolling in the study but unable to travel, they can do telehealth visit and work with your local physician to get some of the testing needed (this might have to go through insurance). For more information, please contact Dr. Stella Hartono (contact information below).

Who is directing this research? Where? 

Pamela A. Guerrerio, M.D. Ph.D.
Interim Chief, Laboratory of Allergic Diseases, Chief, Food Allergy Research Unit (FARU)
Laboratory of Allergic Diseases, NIAID, NIH
10 Clinical Center Drive, Building 10, Room 11N240B, MSC 1889
Bethesda, Maryland 20892

pamela.guerrerio@nih.gov
Ph: 301-402-9782

Stella Hartono, MD PhD
Clinical Fellow – Allergy and Immunology
National Institute of Allergy and Infectious Diseases
National Institute of Health
stella.hartono@nih.gov
Ph: 240-381-4789

If I’m interested, who do I contact?

Research Nurse Specialist
Food Allergy Research Unit, Laboratory of Allergic Diseases | NIAID
National Institutes of Health
10 Center Drive, Room 11N244 | Bethesda, MD 20892
office: 301.761.7887 | fax: 301.451.5670

What is this research about?
The visit involves a detailed history focusing on issues that might indicate involvement of the immune system (e.g., allergies, infections, etc) in Myhre syndrome. As well as a review of their past medical history.  

How long?
This usually takes one to two hours. 

Do they you take blood?
Yes, there is a blood draw. We will perform a basic clinical immunology evaluation and genetic testing in addition to other research-based tests to evaluate the function of various immune cells. We are also evaluating response to COVID vaccination in Myhre patients that are eligible for the vaccine.

Is transportation covered? 
No. The patients must pay for transportation for their first visit unless they have financial need.  We can provide more details about what that involves.  

Follow-up visits? 
Any subsequent visits are paid for by the NIH.  If they need to stay overnight, the NIH provides a place to stay.

Is a hotel provided?
This is covered by the NIH. We have on campus housing, but if that’s not available, NIH provides reimbursement for hotel.

Any compensation?
Not directly to patient for the visit.

Duration of visit? 
A half day is usually sufficient.

Is there a minimum age?
Two years.