Physician Support

4th Annual ALD Identifying Standards of Care Meeting

Wythe Hotel
80 Wythe Ave
Brooklyn, NY 11249

January 16-17, 2020

Thursday January 16th

9:00-9:30    ALD NBS Roundtable Update
                       Michele Caggana, ScD, FACMG      NYS Department of Health

9:30-10:00      Texas NBS Experience
                        Rachel Lee, Phd                                TX Department of Health

10:00-10:30    Outcomes of Newborn Screening for ALD in NY
                         Beth Vogel, MS, CGC             NYS Department of Health

10:30-11:00    A Parent’s Experience – Jennifer Mahoney

11:15-11:35    ALD Parent’s Guide             Miranda McAuliffe

11:35-12:00    ALD Family Education        Kris Rothleutner
                                                                        bluebird bio

12:00-12:30    Minimizing Neurocognitive Effects of X-ALD in Newborn Screening Era
                        Rene Pierpont, PhD. Univ. of Minnesota


1:30-2:00       Novel Cellular Therapies Derived from Cord Blood Monocytes for Children with Leukodystrophies
                        Joanne Kurtzberg, MD Duke University

2:00-2:30       Systematic Review and Meta Analysis for the MRI Surveillance Guidelines
                       Eric Mallack, MD Weill- Cornell Medicine-NYP

2:30-3:15       Multidisciplinary Approach
                     Mabel Yau, MD; Hillary Raynes, MD; Lissette Estrella, NP            Mount Sinai

3:15-3:45       Transplant for ALD                    Paul Orchard, MD
                                                                              University of Minnesota

4:00-4:30        Human Endocannabinoid System Rita Hedrick

4:30-5:00        Medical Marijuana: A Personal Experience           Jesse Torrey

5:00-5:30        A Parent’s Perspective                      Katie Mullen

Friday January 17th


9:00-9:30    Newborn Screening and Functional Testing
                        Stephan Kemp, PhD Amsterdam Univ. Medical Center

9:30-10:00      Endocrinology Practices in ALD
                       Molly Regelmann, MD                                             Montefiore

10:00-10:30    A Parent’s Experience                     Kerri Denies

10:30-11:00    Activity and Rehabilitation in Early Stage ALD
                        Brian Wishart, DO             Massachusetts General Hospital

11:00-12:00    ALD Database/Registry Discussion   Paul Orchard, MD
                                                                                          Adeline Vanderveer, MD                                                                                                                                      Elisa Seeger


1:00-1:15        NBS for ALD Toolkit                             Sara Castegini bluebird bio
                                                                                          Emily Fields bluebird bio

1:15-1:45      Early Signs and Symptoms of Cerebral ALD
                        Florian Eichler, MD                               Massachusetts General Hospital

1:45-2:00        Min 102 for CCALD
                        Uwe Meya                  Minoryx Therapeutics

2:00-2:30        Dutch Experience
                        Rinse Barendsen                               Amsterdam Univ. Medical Center

2nd Annual
ALD: Identifying Standards of Care Conference

January 17-19, 2018

Wythe Hotel
80 Wythe Ave
Brooklyn, NY 11249
www.wythehotel.com

January 2018 Agenda:

Thursday January 18th 2018
8:00-9:00
Registration/Breakfast

9:00-9:30
New York ALD NBS Update
NBS Roundtable
Michele Caggana Sc.D., FACMG Joseph Orsini Ph.D.
NY State Department of Health

9:30-10:00
Minnesota ALD NBS Update
Elise Holmes MPP
Minnesota Department of Health

10:00-11:00
Endocrinology in ALD
Molly Regelmann, MD
Assistant Professor Children’s Hospital Montefiore

11:00-11:45
Nanotherapy Research
Ali Fatemi, MD, MBA
Director of the Moser center for Leukodystrophies

11:45-12:30
California ALD NBS Update
Lisa Feuchtbaum, Dr. P.H., M.P.H.
Chief, Program and Policy California Department of Public Health

12:30-1:30
LUNCH

1:30-2:30
CFF Patient Registry
Paula Lomas MAS, RN, CCRP Cystic Fibrosis Foundation

2:30-3:00
Natural History Outcomes for ALD
Florian Eichler, MD
Massachusetts General Hospital

3:00-3:30
Lorenzo’s Oil: Update
Gerald Raymond, MD
Penn State Children’s Hospital

3:30-3:45
BREAK

3:45-4:15
Imaging in ALD
Eric Mallack, MD
Neurology Cornell Medical Center

4:15-5:00
Early Diagnosis and Improved Outcomes Using Automated Neuroimaging Software Reduced
Toxicity Conditioning Regimens for the Treatment of Leukodystrophies
Maria Escolar, MD
Children’s Hospital of Pittsburgh

5:00-5:30
Genetics of ALD
Beth Vogel, MS CGC
NY State Department of Health

Friday January 19th 2018

8:00-9:00
BREAKFAST

9:00-10:00
ALD Database Update
Stephan Kemp, MD AMC

10:00-10:30
A Parent’s Perspective
Nic Adler

10:30-11:00
A Parent’s Perspective
Kelly Waterman

11:00-11:30
Cost Analysis for ALD
Karen Harrison ALD Life

11:30-12:30
BMT Update
Paul Orchard, MD
University of Minnesota

12:30-1:30
LUNCH

1:30-2:30
Industry Panel Updates
bluebird bio - Joe Biedenkapp, Ph.D.
Neurovia – Giovanni Ferrara CEO
Minoryx – Uwe Meya, Chief Medical Officer

2:30-3:00
Nutrition in ALD
Hong Brereton, MS, RD

3:00-3:30
Questions/Comments

Thank you to our sponsors for making this possible:

bluebird bio, inc

Hunter's Hope

VERTEX

Retrophin

January 2017 Agenda:

ALD Newborn Screening: Diagnosis is the Beginning
Identifying ALD Standards of Care

McCarren Hotel
160 North 12th St
Brooklyn, NY 11249


Thursday January 19th 2017

8:30-9:30
BREAKFAST

9:30-10:30
ALD NBS – History & Test Development
Ann Moser

10:30-11:30
ALD NBS- Update 3 Years of Testing in NY
Updated numbers, testing experience, incidence rate
Michele Caggana ScD, FACMG and Joseph Orsini PhD
NYS Dept. Health

11:30-12:00
After the Diagnosis: What happens after a baby is identified?
Meeting with the family, what information is shared? Center, neurologist,
endocrinologist, etc
Is the family given any published information?
Beth Vogel MS, CGCNYS Dept. of Health

12:00-12:30
Reproductive Options
Alejandro Iglesisas, MD
Columbia Univ. Medical Center.

12:30-1:30
   LUNCH

1:30-2:30
Endocrinologist: Discuss their experience with ALD, share with the group when testing for
adrenal insufficiency should start, stress dosing
Rose Marino, MD
Mass General

2:30-3:00
Nutritionist: Discussion diet for newborns and modifying diet after 18 months
Hong Brereton, MS
Johns Hopkins University

3:00-3:30
Lorenzo’s Oil: Update/Availability
Gerald Raymond, MD
University of Minnesota

3:30-3:45
BREAK/SNACK

3:45-4:15
Neurologist: How often will MRI’s be administered?
Recognizing changes in an ALD MRI
Gerald Raymond, MD
University of Minnesota

4:15-5:00
Address: AMN Men CAN develop cerebral form of the disease,
age presentation in ALD boys, importance of a 2nd opinion
Jennifer Kwon, MD
University of Rochester

5:00-5:45
BMT: Take us through the experience, any updates on method, Chemotherapy, drugs administered,
time spent in the hospital, challenges, etc.
Address “There is No Cure” Statement.
Paul Orchard MD
University of Minnesota

Friday January 20th 2017

8:30-9:30
BREAKFAST

9:30-10:00
A Mother’s Perspective
Suzanne Flynn

10:00-11:00
Tailoring Treatments to Phenotype: What are the Gaps?
Orpeheris – Drug Development
Florian Eichler, MD
Mass General

11:00-11:30
Can Sports/Activities be a trigger for ALD?
Dutch Standard of Care
Marc Engelen, MD
AMC   Netherlands

11:30-12:30
ALD Database
Phenotype/Genotype Discussion
Stephan Kemp, MD
UVA

12:30-1:30
LUNCH

1:30-2:00
Gene Therapy
Gary Fortin
Bluebird Bio

2:00-2:30
Retrophin
William Soliman

2:30-2:45
Rare Bear Program
Janis Sherwood
Fight ALD

2:45-3:30
Questions/Comments

Thank you to our sponsors for making this possible:

bluebird bio, inc

Hunter's Hope

Retrophin

Getting Tested for ALD or AMN
A minimum of 3 ml whole blood should be collected in a lavender (EDTA) tube. Results are most reliable when a fasting sample is tested. Ideally, the patient should not eat or drink 8 hours prior to blood collection. Note that drinking water is fine and will not interfere with results. The sample should be maintained at room temperature and not subjected to extremes of either heat or cold. Sample should be shipped via overnight mail, such as FedEx, and insulated as necessary. The requisition form may be downloaded at: http://genetics.kennedykrieger.org/forms/pero1.pdf Results are available within 7 to 10 days, unless there are special circumstances.

Contact information related to testing:
Kennedy Krieger Institute Genetics Laboratory – Peroxisomal Diseases Section
707 North Broadway 
Baltimore, MD 21205 USA
Phone: 1.443.923.2760
Fax: 1.443.923.2755

A child in our family was just diagnosed with ALD, what are the first things we should do?

Get a magnetic resonance imaging (MRI) scan of the child’s brain. This will tell you the extent of the progression of the disease, and determine next steps. It will also provide a baseline for you and physicians to use to compare with future MRI scans, which are generally performed at 6 month intervals.
Have your child tested for adrenal insufficiency (Addison’s disease). The test for adrenal insufficiency is done by a pediatric endocrinologist. Addison’s disease is generally associated with ALD. The adrenal glands produce a variety of hormones that control levels of sugar, sodium, and potassium in the body, and help it respond to stress. In Addison’s disease, the body produces insufficient levels of the adrenal hormone, which can be life-threatening. Fortunately, this aspect of ALD is easily treated, simply by taking a steroid pill daily (and adjusting the dose in times of stress or illness).
Consider limiting your child’s fat intake to no more than 30% of his daily diet. This is easily done by limiting red meats and using low-fat substitutes for things like milk and butter.
If your child already has symptoms, the approved treatment for ALD is a stem cell transplant, using either stem cells derived from bone marrow or from umbilical cord blood (UCB). If done early enough, this treatment has been found to stop the neural degeneration. However, both types of transplantation are risky procedures that can also be life-threatening. Research shows that this treatment has its best chance of success when the child has no more than one diagnosed neurological deficits, and a Loes score of 9 or lower.
A clinical trial for Gene Therapy is currently being administered through Bluebird Bio. Though currently under the early stages, Gene Therapy is thought to be a safer method of treatment, as the child’s own cells are being used, so no need to find a match in the bone marrow registry and no chance of rejection or the use of anti-rejection medications. For more information please go to: http://clinicaltrials.gov/ct2/show/NCT01896102?term=ALD&rank=15

Our newborn son has just been diagnosed with ALD, what do we do and what should my pediatrician know?

Your baby should start getting his MRI, by the age of 1, to establish a baseline. MRI’s should continue to be taken every 6 months.
It is EXTREMELY important to have these MRI’s reviewed by an ALD specialist. Unfortunately, because ALD is a rare disease, the local neurologist may not have enough experience to notice the slight changes to an ALD patient’s MRI and ALD patients do not have the time for misdiagnosis. Six months can be the difference between life or death.

Please contact Dr. Gerald Raymond Pediatric Neurologist, Specializing in ALD for a 2nd opinion on your MRI. Click here to contact Dr. Raymond.
Babies should have ACTH and Cortisol checked every 3 months from 3 months of age on. If adrenal insufficiency is diagnosed, it should be managed with a daily steroid and a stress dose whenever needed.
Starting at 2 years of age the baby should have an annual workup; including, ophthalmologic exam and visual fields.

What is a Loes score?
The Loes score is a rating of the severity of abnormalities in the brain found on MRI. It ranges from 0 to 34, based on a point system derived from the location and extent of disease and the presence of atrophy in the brain, either localized to specific points or generally throughout the brain. A Loes score of 0.5 or less is classified as normal, while a Loes score of 14 or greater is considered severe.

It was developed by neuroradiologist Daniel J. Loes of the University of Minnesota, and is an important tool in assessing disease progression and the effectiveness of therapy. For example, even if your child shows no noticeable symptoms, if the Loes score deteriorates by more than one scale point with each six-month MRI exam, some specialists will recommend that you consider a stem cell transplant or gene therapy.

Please see a physician with extensive ALD experience who will be the best qualified healthcare provider to determine the Loes scale.

Suggestions:
Joanne Kurtzberg, MD,

Chief Scientific Officer, Robertson Clinical and Translational Cell Therapy Program, Duke University Medical Center Co-Director, Stem Cell Laboratory Director, Carolinas Cord Blood Bank
Click here to contact Dr. Kurtzberg

Paul Orchard, MD

Associate Professor, Division of Blood and Bone Marrow Transplantation,
University of Minnesota
Click here to contact Dr. Orchard

Gerald Raymond, MD

Pediatric Neurologist, Specializing in ALD
University of Minnesota
Click here to contact Dr. Raymond

Maria Luisa Escolar, MD, MS

Director, Program for the Study of Neurodevelopment in Rare Disorders Associate Professor, Pediatrics, University of Pittsburgh School of Medicine
Click here to contact Dr. Escolar

Florian Eichler, MD

Director of Leukodystrophy Service at Massachusetts General Hospital
Click here to contact Dr. Eichler

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