Screening for Jervell and Lange-Nielsen Syndrome is a research project funded by the National Institutes of Health as a part of the American Recovery and Reinvestment Act (ARRA).  This 2-year study will be conducted in California in collaboration with the California Newborn Hearing Screening Program.  The project’s Southern California Center is at the Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center in Torrance, and the Northern California Center is at the Santa Clara Valley Medical Center in San Jose.  

Who is eligible to participate in this study?

Infants and children who were born in California after September 2005, and have been diagnosed with severe to profound hearing loss, are eligible.  We encourage you to call us to find out if your child can take part in this study.  If you have any questions, please do not hesitate to call: 1 (877) 221-8210 .

What happens if I participate in the study?

You and your child will come to one of our test sites near you.  Our study coordinator will meet you in a quiet, private room and go over the details of the study and the consent form with you.  After this,we will ask you questions regarding your child's medical health, illnesses, and sudden deaths in your family. After this, an ECG will be taken of your child, which lasts about 20 minutes.

How much does it cost to participate in the study?

It is free to participate in the study.  As mentioned above, this project is funded by the National Institutes of Health as a part of the American Recovery and Reinvestment Act (ARRA).  Neither you nor your insurance will be charged for being part of this study.  We will provide you with a modest compensation for your time.  If you have a problem with transportation, we can help you in making travel arrangements.

What happens if my child is suspected of having JLNS?

If the symptoms or ECG findings suggest that your child might have JLNS, we will arrange a special genetic test for him/her at no cost to you or your insurance.  For the genetic test, your child will have a small amount of blood taken and sent to a special laboratory at PGx Health.  Once we have the results, we will arrange for genetic counseling for your family with one of our genetic specialists.  The genetic counseling will help you understand the results of the genetic test and what this means to your family.

What happens if the genetic test is positive?

If the genetic test is positive, it is very likely that your child has JLNS.  Once we know about the positive test result and with your consent, we will inform your child’s pediatrician and help arrange for a referral to a pediatric cardiologist.  A pediatric cardiologist is a heart specialist for children who will take care of your child for issues related to JLNS.  If you do not have insurance, we will help you apply for the California Children Services (CCS).  CCS is a state program that provides insurance coverage for children who have special health conditions such as JLNS.

Are there any risks for participating in the study?

There is a very small risk of skin infection or rash related to the procedures involved in ECG testing.  Your child may feel some discomfort from the sticky patches that will be placed on and be removed from his/her chest, although this is very unlikely. The study staff will follow proper procedures to prevent infection before the ECG test.    Drawing blood may cause some pain, bleeding and/or a bruise where the needle is inserted. Occasionally the area around the vein may swell. Serious complications such as a blood clot or infection may occur, but these are rare.

The study doctors will protect your child’s confidentiality as much as possible.  For example, the research laboratory that tests your child’s blood will not be given his/her name.  Information gained from this research will only be available to your doctors or other researchers that you consented to view the information. 

Why should my child take part in the study?

If your child is found not to have JLNS, it would be reassuring to know that he or she does not have a potentially life-threatening disease.  If your child has JLNS, early detection of JLNS can lead to timely treatment to prevent sudden death due to irregular heart beats.  The genetic testing for LQTS may also help to understand if other members in your family might be at risk for LQTS, in this manner appropriate medical referrals can be made. 

This study may lead to a better understanding of JLNS and provide important insight for future treatments and research.  Fortunately, effective treatments are available, and early diagnosis and treatment of JLNS can prevent sudden death and reduce the chance of brain damage related to cardiac events.  Study participation will help the researchers to gain important knowledge about how state hearing screening programs should be structured so that in the future we can help more infants with hearing problems.