ALD Newborn Screening
RECOMMENDED
SPECIALISTS
There are specialists with experience caring for patients with ALD at Mass General, The University of Minnesota, New York Presbyterian, the Children’s Hospital of Philadelphia, Stanford Children’s Hospital, and Kennedy Krieger. The University of Minnesota has specific expertise with bone marrow transplants for ALD and other leukodystrophy patients.
My child tested positive for ALD, what should I do now?
The good news is that newborn screening is a "game-changer" for children with leukodystrophy, it will save lives. Once a diagnosis is confirmed you need to find a medical team who specializes in treating ALD. The first thing you should do is work with genetic counselor to find out if other family members are affected. Next, you should set up an appointment for a regular schedule of monitoring. Children with the ALD mutation do need to be monitored for adrenal insufficiency and with regular MRIs around the age of 18 months (some medical teams will start testing earlier or later) to see if the child is developing cerebral adrenoleukodystrophy or CALD. About 1 in 3 children develop CALD, and it is critical to treat patients before the disease progresses to halt damage to the brain and central nervous system.
Learn more about the work of patient advocates who have championed newborn screening.
Why do we have to keep going to the doctor if my child might not get sick?
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A new generation of families who learn their children have ALD at birth as a result of newborn screening now have a hope that was unimaginable a few years ago. However, living with leukodystrophy requires a great deal of diligence and support. While some children who possess the mutation will not develop the most aggressive form of the disease, doctors cannot tell which children will develop the disease. This is why medical care from specialists is essential.
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Time is crucial if and when the disease develops because doctors cannot treat every child with the mutation. However, if the disease starts to progress, the doctors must treat the child immediately to protect the brain and central nervous system from irreparable damage.
Image: Courtesy Sarah Coakley
What is “Lorenzo’s Oil”?
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In the 1992 film “Lorenzo’s Oil” starring Nick Nolte and Susan Sarandon, Augosto Odone, played by Nolte, invents an oil to treat adrenoleukodystrophy. The Odones were remarkable parent advocates and the legacy of that work lives on today through the efforts of their foundation: The Myelin Project. However, Lorenzo’s Oil is not a cure for leukodystrophy. The oil is still considered an experimental treatment that might have some benefit in preventing the childhood cerebral form of adrenoleukodystrophy by normalizing the levels of certain chemicals called very long-chain fatty acids. Lorenzo’s Oil is specific to ALD, does not repair myelin, and does not have any known effect on other demyelinating disorders, such as multiple sclerosis or any other forms of leukodystrophy. You should consult your child’s medical team to learn more about this treatment option.
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Watch this video to learn from genetic counselor Katie Wiens about what being identified through ALD newborn screening means for the entire family.
What is gene therapy? Will it benefit my loved one?
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At present, there are three forms of gene therapy to treat leukodystrophies
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Bluebird Bio’s gene therapy treatment for adrenoleukodydstrophy (ALD)
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Dr. Guangping Gao and Dr. Dominic Gessler’s Canavan disease study
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GSK/TIGET’s treatment for late infantile metachromatic leukodystrophy (MLD)
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All these treatments are most effective in presymptomatic patients.
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The ALD gene therapy trial with bluebird bio has been reopened.
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The MLD gene therapy trial has opened a Phase III clinical trial to test the effectiveness of cryopreservation technology (to freeze the repaired cells).
To learn more about the trial, please contact:
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Dr. Francesca Fumagalli via email at Fumagalli.Francesca@hsr.it.
Finally, patients interested in the gene therapy for Canavan disease should
contact:
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Dr. Dominic Gessler at Dominic.Gessler@umassmed.edu.
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In May 2019, the NIH launched a gene therapy trial for GM1, click here to learn more about the trial. You can contact:
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The Cure GM1 Foundation for more information.
We will be updating you all on new developments we learn about them
At present, there are three forms of gene therapy to treat leukodystrophies
Bluebird Bio’s gene therapy treatment for adrenoleukodydstrophy (ALD)
Clinical Trials at the U.S. National Library of Medicine
NIH launched a gene therapy trial for GM1
Click here to learn more about the trial
Bluebirdbio launches website to assist US families navigate life with ALD. Please visit here
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Gene therapy is a promising new treatment for ALD. The major advantage of the treatment is that patients serve as their own donors. A bone marrow transplant requires a donor’s bone marrow and it can be difficult to find a donor match and using a donor can add to the complications of the procedure. However, in gene replacement therapy, since the patient’s stem cells are “infected” with the corrected version of the missing gene using a vector (constructed from a harmless virus), there is no need for a donor. Autologous transplants avoid the complications of graft vs. host disease.
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However, at this time, gene therapy treatments for ALD are still in clinical trials. And while the results have been promising, we are still learning about the long-term effects and efficacy of these treatments.
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Learn more about the clinical trial here.
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Watch this video about gene therapy for ALD featuring bluebird bio CEO Nick Leschly.
