Introduction to the ALD Newborn Screening Study to be performed at Frederick Memorial Hospital and three other Maryland Hospitals PART 1: LOGISTICS – STUDY DETAILS Christiane Theda MD PhD (Melbourne, Australia) Presenters: Pam Bell RNC, Clinical Educator, FMH NICU and Janice Lane RN, Clinical Educator, FMH FC/Peds TO RETURN TO WEB PAGE – click here TO RETURN TO WEB PAGE – click here

Newborn Screening testing through the Maryland State Laboratory is done at FMH. Testing for Adrenoleukodystrophy (ALD) and other peroxisomal disorders (PD) will be offered as a additional test to parents who consent to the routine screening test while at FMH. TO RETURN TO WEB PAGE – click here TO RETURN TO WEB PAGE – click here

Step 1 - Consent: Babies in Well Baby Nursery and NICU are included. Consent is obtained by the nursing staff at the time information and the consent form for the routine newborn screen are given to parents. TO RETURN TO WEB PAGE – click here TO RETURN TO WEB PAGE – click here

Step 1 - Consent: Give three copy consent form to parents to review. If parents consent: Original: to be forwarded to study team – place in envelope/box in WBN or NICU. Second copy: to be filed with the baby’s FMH chart. Third copy: to be given to parents. TO RETURN TO WEB PAGE – click here TO RETURN TO WEB PAGE – click here

If parents have questions: Try to answer their questions. Give parents the option not to participate. Please emphasize that it is “no problem” and will in no way affect their baby’s care at FMH. If parents state that they would like to participate but not without their questions answered in more detail, there are several choices… TO RETURN TO WEB PAGE – click here TO RETURN TO WEB PAGE – click here

If parents have questions – choices are: Provide printed material from web-site (at Consent drop-off boxes) Refer patients to web-site: Offer that a research coordinators will be able to contact them within the next few hours. - contact Pam or Janice during daytime - contact Dr. Theda on evenings and nights (due to time difference to Australia, Dr. Theda can call mom in her room after 5 PM or 6 PM) – call and leave message with mother’s name and room number – number also accepts faxes. Dr. Theda’s is: TO RETURN TO WEB PAGE – click here TO RETURN TO WEB PAGE – click here

Step 2 – Sample Collection: Newborn screening sample to be collected as usual: no extra blood needed, no difference in technique. Mark on top of specimen card used for metabolic screening: “ALD Study” This marking will help to identify the sample in the State Laboratory - although samples can also be identified through the filing of a consent form. TO RETURN TO WEB PAGE – click here TO RETURN TO WEB PAGE – click here

Step 3 – Analysis and Results: The samples will be processed by the State Laboratory and be forwarded to the Peroxismal Disease Laboratory at Kennedy Krieger Institute in Baltimore for analysis. Negative = normal results will not be reported back to the parents (as explained on the consent form). TO RETURN TO WEB PAGE – click here TO RETURN TO WEB PAGE – click here

Step 3 – Analysis and Results: Positive results will be rare (estimated at around 1 in 17,000). In case a specimen from FMH is positive: The research team will contact the family and arrange for additional testing – testing at no cost; efforts will be made to avoid costs to families (travel reimbursements or consultation close to home etc. TO RETURN TO WEB PAGE – click here TO RETURN TO WEB PAGE – click here

Overall study goal: Analyze 5,000 samples and verify the method; …then, through publication and presentation of results, establish testing for ALD and peroxisomal disorders as part of the routine screening program in Maryland and beyond… TO RETURN TO WEB PAGE – click here TO RETURN TO WEB PAGE – click here

Overall study goal: …and of course, ultimately, improve the outcomes for affected patients and families… … your help to reach our goal would be very much appreciated! TO RETURN TO WEB PAGE – click here TO RETURN TO WEB PAGE – click here