Newly Diagnosed

Newly Diagnosed

If your child has been recently diagnosed with adrenoleukodystrophy (ALD), don’t worry – you are not alone and we are here to help. Click on the following questions to expand the sections to learn more. If you have any questions, please feel free to contact us.

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, click here.

Our newborn was just 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 very 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?

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

The above information was provided by the Aidan Jack Seeger Foundation.

Leukodystrophy Specialists


United States


CALIFORNIA

Dr. Yvette Bordelon
Department of Neurology (AMN)
Ronald Reagan UCLA Medical Center
310-794-1195

Dr. Raman Sankar
Rubin Brown Professor and Chief 
Division of Pediatric Neurology
David Geffen School of Medicine at UCLA
RSankar@ucla.edu
(310) 825-6196

Dr. Keith Van Haren
Department of Neurology (ALD & AMN)
Stanford School of Medicine
kpv@stanford.edu
Click here for more information.


CONNECTICUT

Dr. Jeff Kocsis
Director Yale Center for Neuroscience and Regeneration Research
jeffery.kocsis@yale.edu


MARYLAND

Kim Hollandsworth
ALD Genetic-testing
Kennedy Krieger Institute
hollandsworth@kennedykrieger.org

Ann Moser, Ph.D. (Co-Director)
Richard Jones, Ph.D. (Co-Director)
ALD Newborn Screening and the “Lorenzo’s Oil Clinical Study”
Kennedy Krieger Institute, Baltimore, MD, USA
Moser, A: mosera@kennedykrieger.org
Jones, R: jonesri@kennedykrieger.org


MASSACHUSETTS

Dr. Florian Eichler
Director of Leukodystrophy Service
(Adult and pediatric neurologist and researcher, speaks English, German and Spanish) 
feichler@partners.org 617-726-6093 



MINNESOTA

Dr. Gerald Reimer
Department of Neurology
University of Minnesota
gvraymon@umn.edu

Dr. Paul Orchard
(Hematopoietic cell transplantation and researcher)
University of Minnesota, Minneapolis, USA.
orcha001@umn.edu 612-626-2961  

Dr. Weston Miller
University of Minnesota, Minneapolis, USA.
(Stem cell transplantation for metabolic disorders, including ALD-AMN.)
mill4991@umn.edu

Dr. Troy Lund
(Hematopoietic cell transplantation and researcher)
University of Minnesota, Minneapolis, USA Missouri

Mark Sands, Ph.D.
Department of Medicine, Oncology Division, Washington University | St. Louis, MO | USA
Lysosomal storage disease (LSD) specialist.
Contact details: msands@dom.wustl.edu



NEW YORK

Mitchell Cairo, M.D.
Columbia University, New York, USA.
Specialised research includes Human Placental-Derived Stem Cell Transplantation (clinical trial director, New York Medical College)
Contact details: mc1310@columbia.edu



NORTH CAROLINA

Joanne Kurtzberg, M.D.
Duke University, Durham, USA.
Specialist research includes transplantation therapy for inborn errors of metabolism | kurtz001@mc.duke.edu


OREGON

Dr. David M. Koeller
Oregon Health & Science University of Portland 
3303 SW Bond Ave, Portland, OR 97239
(503) 418-9888


PENNSYLVANIA

Dr. Paul Szabolcs
Children’s Hospital of Pittsburgh
Bone Marrow Transplant (ALD)
4401 Penn Ave, Pittsburgh, PA 15224
(412) 692-5260


WASHINGTON D.C.

Dr. Adeline Vanderver
(Undiagnosed and unspecified leukodystrophies)
Children’s National Medical Center, Center for Genetic Medicine Research, 111 Michigan Ave, NW, Washington DC 20010-2970; Assistant Professor Neurology & Pediatrics, George Washington University | 202-476-6230 avanderv@childrensnational.org


WISCONSIN

Ian Duncan, Ph.D.
University of Wisconsin, Madison, USA.
“Roles of Microgliamacrophages and their therapeutic use in combination with lentiviral gene transfer in Krabbe’s Disease”
duncani@svm.vetmed.wisc.edu


Asia


INDIA

Dr. R K Sabharwal
Pediatric Neurologist | Sir Gangaram Hospital of Delhi
352, SFS Appartment, Aurobindo Marg, Hauz Khas, Delhi 
110016 | (011) 23519667

Dr. S P Yadav
Pediatric Hematologist | Sir Gangaram Hospital of Delhi
352, SFS Appartment, Aurobindo Marg, Hauz Khas, Delhi 
110016 | (011) 23519667


TAIWAN

Jao Shwann Liang, M.D.
Far Eastern Memorial Hospital, New TaiPei City, 220, Taiwan 
Research orientated around Paediatric Neurology, including X-ALD.
Contact details: Liang@imcir.twmu.ac.jp


Canada


QUEBEC

Michel Sylvain, M.D.
Chul Hospital, Quebec, Canada.
Specialist in Paediatric Neurology.
Tel: (418) 654-2708.

Bernard Brais, M.D.
Montreal Neurological Institute and Hospital, Quebec  
Co-directs the neuromuscular group within the hospital.
Contact details: Bernard.brais@umontreal.ca


The European Union


AUSTRIA

Johannes Berger, Ph.D.
Medical University of Austria
Co-ordinator of the Community Research and Development Information Service’s (CORDIS’s) Integrated project to decipher the biological function of peroxisomes in health and disease. Contact details: johannes.berger@meduniwien.ac.uk



BELGIUM

Myriam Baes, Ph.D.
Laboratory for Cell Metabolism
Katholieve Univeristy, Leuven, Belgium
Active in the CORDIS integrated project to decipher the biological function of peroxisomes in health and disease. Contact details: myriam.baes@pharm.ku;euven.be



FRANCE

Patrick Aubourg, M.D.
Saint-Vincent de Paul Hospital, Paris
Specialist research includes X-linked Adrenoleukodystrophy (ALD), metachromatic Leukodystrophy Disease (MLD), & Neurofibromatosis. patrick.aubourg@inserm.fr

Dr. Annick Baron
Director; Unit on Disorders of Myelin and Muscle ion channels, 
L’hopital de la Salpetriere, FRANCE

Nathalie Cartier, Ph.D.
INSERM, Department of pediatric Endocrinology and Neurology, Hospital Bicentre, Paris, France. Research includes haemopoietic cell gene therapy for ALD. nathalie.cartier@inserm.fr


GERMANY

Celia Kassmann, Ph.D.
kassmann@em.mpg.de
Max-Planck Institute of Experimental Medicine, Gottingen 
The Myelin Project Research entitled “Peroxisomal purification and degeneration – A therapeutic approach in AMN mice”.

Klaus-Armin Nave, Ph.D.
nave@em.mpg.de
Max-Planck Institute of Experimental Medicine, Gottingen
The Myelin Project Research entitled “Peroxisomal purification and degeneration – A therapeutic approach in AMN mice”.



Dr. Wolfgang Bruck
Professor of Neuropathology
University of Göttingen, GERMANY

Dr. Brück has been studying the immunopathology of MS lesions in attempts to unravel the mechanisms behind endogenous remyelination.  It appears that in MS lesions, sufficient myelin-forming precursor cells are present but they do not differentiate into mature cells.

wbrueck@med.uni-goettingen.de


ITALY

Anna Maria Cimini, Ph.D
Department of Basic and Applied Biology, University of L’Aquila
Research includes Neurobiology and gene and cell therapy.
Contact details: cimini@univaq.it

Dr. Gianvito Martino
Director; Division of Neuroscience
San Raffaele Hospital, ITALY

Antonio Federico, Ph.D.
Department Director of Neurology and Behaviour, University of Siena
Research interests include a variety of inborn neurological diseases.
Contact details: federico@unisi.it


NETHERLANDS

M.S. van der Knapp
Undiagnosed and Unspecified Leukodystrophies
MD PhD Professor of Child Neurology – VU University Medical Center De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands +31 20 4444856, Fax: +31 20 4440849 ms.vanderknaap@vumc.nl

Stephan Kemp, Ph.D.
Laboratory Genetic Metabolic Diseases, Academic Medical Center, Univeristy of Amsterdam Specialist research in the clinical, biochemical, genetic, and pathology of X-ALD, including novel therapies s.kemp@amc.uva.nl

Bwee Tien Poll, Ph.D.
Univeristy of Amsterdam
Specialist research includes the biology of peroxisomes.
b.t.pollthe@amc.nl 


SPAIN

Aurora Pujol, M.D.
Neurometabolic Diseases Lab, IDIBELL, Barcelona
Interested in the genetic analysis of neurometabolic diseases.
Contact details: apujol@idibell.cat


UNITED KINGDOM

Dr. Ashok Vellodi
Great Ormond Street Hospital

Great Ormond Street

London WC1N 3JH

Dr. Robin Franklin
(Researcher)
Dr. Franklin is director of the neural stem cell theme in the Cambridge Stem Cell Institute and is Director of the MS Society Cambridge Centre for Myelin Repair. rjf1000@cam.ac.uk

Dr. Charles french-Constant
Director; Professor of Multiple Sclerosis Research
Center for Regenerative Medicine
University of Edinburgh, Scotland

Dr. Robin Lachmann
National Hospital for Neurosurgery and Neurology
Queen Square, London WC1N 3BG

Dr. Colin Steward
Bristol Royal Hospital for Children, Department of Haematology, Oncology and BMT Level 6, Upper Maudlin Street Bristol BS2 8BJ

BMT Unit, Bristol Royal Hospital for Children, Bristol, UK.

Specialist research includes the identification of novel genetic diseases and areas of under-diagnosis, e.g. the link between Addison’s Disease and ALD.
Contact: colin.steward@nildram.co.uk