christiane theda md phd (melbourne, australia)

Introduction to the Introduction to the ALD Newborn ALD Newborn Screening StudyScreening Study to be performed at to be performed at Frederick Memorial HospitalFrederick Memorial Hospital and and three other Maryland Hospitalsthree other Maryland Hospitals

PART 1: LOGISTICS – STUDY DETAILSPART 1: LOGISTICS – STUDY DETAILS

Christiane Theda MD PhD (Melbourne, Australia)Christiane Theda MD PhD (Melbourne, Australia)Presenters: Presenters: Pam Bell RNC, Clinical Educator, FMH Pam Bell RNC, Clinical Educator, FMH NICU and Janice Lane RN, Clinical Educator, FMH NICU and Janice Lane RN, Clinical Educator, FMH FC/PedsFC/Peds

TO RETURN TO WEB PAGE – TO RETURN TO WEB PAGE – click hereclick here

Newborn Screening testingNewborn Screening testing through the Maryland State through the Maryland State Laboratory is done at FMH.Laboratory is done at FMH.

Testing for Testing for Adrenoleukodystrophy (ALD) and Adrenoleukodystrophy (ALD) and other peroxisomal disorders (PD) other peroxisomal disorders (PD) will be offered as a will be offered as a additional additional testtest to parents who consent to to parents who consent to the routine screening test while the routine screening test while at FMH.at FMH.


Step 1 - Consent:Step 1 - Consent:

Babies in Babies in Well Baby Nursery Well Baby Nursery and NICUand NICU are included. are included.

Consent is obtained by the Consent is obtained by the nursing staffnursing staff at the time at the time information and the consent information and the consent form for the routine newborn form for the routine newborn screen are given to parents. screen are given to parents.


Step 1 - Consent:Step 1 - Consent:

Give three copy Give three copy consent formconsent form to to parents to review.parents to review.

If parents consent:If parents consent:Original:Original: to be forwarded to study to be forwarded to study team – place in envelope/box in WBN team – place in envelope/box in WBN or NICU.or NICU.

Second copy:Second copy: to be filed with the to be filed with the baby’s FMH chart.baby’s FMH chart.

Third copy:Third copy: to be given to parents. to be given to parents.


If parents have questions:If parents have questions:

Try to answerTry to answer their questions. their questions.

Give parents the Give parents the option not to option not to participateparticipate. Please emphasize that it is . Please emphasize that it is “no problem” and will in no way affect “no problem” and will in no way affect their baby’s care at FMH.their baby’s care at FMH.

If parents state that they would like to If parents state that they would like to participate but not without their participate but not without their questions answered in more detail, questions answered in more detail, there are several choices…there are several choices…


If parents have questions – choices are:If parents have questions – choices are: Provide Provide printed materialprinted material from web-site (at from web-site (at Consent drop-off boxes)Consent drop-off boxes)

Refer patients to Refer patients to web-siteweb-site: www.ctheda.org: www.ctheda.org

Offer that a Offer that a research coordinatorsresearch coordinators will be able will be able to contact them within the next few hours.to contact them within the next few hours.- contact - contact Pam or JanicePam or Janice during daytime during daytime- contact - contact Dr. ThedaDr. Theda on evenings and nights on evenings and nights (due to time difference to Australia, Dr. Theda (due to time difference to Australia, Dr. Theda can call mom in her room after 5 PM or 6 PM) can call mom in her room after 5 PM or 6 PM) – call 301-360-9676 and leave message with – call 301-360-9676 and leave message with mother’s name and room number – number mother’s name and room number – number also accepts faxes.also accepts faxes.Dr. Theda’s e-mail is: [email protected]. Theda’s e-mail is: [email protected]


Step 2 – Sample Collection:Step 2 – Sample Collection:

Newborn screening sample to be Newborn screening sample to be collected as usualcollected as usual::no extra blood needed,no extra blood needed,no difference in technique.no difference in technique.

Mark on top of specimen cardMark on top of specimen card used for metabolic screening: used for metabolic screening: ““ALD StudyALD Study””This marking will help to identify the sample This marking will help to identify the sample in the State Laboratory - although samples in the State Laboratory - although samples can also be identified through the filing of a can also be identified through the filing of a consent form.consent form.TO RETURN TO WEB PAGE – TO RETURN TO WEB PAGE – click hereclick here

Step 3 – Analysis and Results:Step 3 – Analysis and Results:

The samples will be processed by The samples will be processed by the the State LaboratoryState Laboratory and be and be forwarded to the forwarded to the Peroxismal Peroxismal Disease Laboratory at Kennedy Disease Laboratory at Kennedy Krieger Institute Krieger Institute in Baltimore for in Baltimore for analysis.analysis.

Negative = normal results will not Negative = normal results will not be reported back to the parentsbe reported back to the parents (as explained on the consent (as explained on the consent form).form).TO RETURN TO WEB PAGE – TO RETURN TO WEB PAGE – click hereclick here

Step 3 – Analysis and Results:Step 3 – Analysis and Results:

Positive resultsPositive results will be will be rarerare (estimated (estimated at around 1 in 17,000). at around 1 in 17,000).

In case a specimen from FMH is In case a specimen from FMH is positive:positive:

The research team will contact the The research team will contact the familyfamily and arrange for additional and arrange for additional testing – testing at no cost; efforts testing – testing at no cost; efforts will be made to avoid costs to will be made to avoid costs to families (travel reimbursements or families (travel reimbursements or consultation close to home etc.consultation close to home etc.


Overall study goal:Overall study goal:

Analyze 5,000 samples and verify the Analyze 5,000 samples and verify the method;method;

……then, through publication and then, through publication and presentation of results, establish presentation of results, establish testing for ALD and peroxisomal testing for ALD and peroxisomal disorders as part of the routine disorders as part of the routine screening program in Maryland and screening program in Maryland and beyond…beyond…


Overall study goal:Overall study goal:

……and of course, ultimately, and of course, ultimately, improve the outcomesimprove the outcomes for for affected patients and families… affected patients and families…

… … your help to reach our your help to reach our goal would be very much goal would be very much appreciated!appreciated!


christiane theda md phd (melbourne, australia)

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