Kennedy Krieger Institute statement on recommendation to add X-linked Adrenoleukodystrophy (ALD) to the United States newborn Recommended Uniform Screening Panel (RUSP)
In response to August 27, 2015, recommendation by the U.S. Department of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)
“We celebrate the Advisory Committee on Heritable Disorders in Newborns and Children’s vote to add X-linked Adrenoleukodystrophy (ALD), a devastating genetic disorder affecting children, to the recommended list of disorders on the newborn screening panel. This is a decision that, if approved by the Department of Health and Human Services (HHS), has the potential to save countless lives and halt the genetic threat we face from ALD.
Dr. Hugo Moser and his wife, Ann Moser, began their ALD research here at the Kennedy Krieger Institute in the late 1970s. It was their dream to identify boys with ALD early through universal newborn screening. Since then, their work has established a standard of care for treating ALD and in 2006 they and their colleagues discovered a newborn screening test that was effectively implemented in the State of New York in December 2013.
It is our hope that HHS will add ALD to the U.S. Recommended Uniform Screening Panel (RUSP) so that we can identify children with ALD before symptoms begin and provide their parents with the information necessary to move forward with lifesaving treatments.”
Background information on ALD:
ALD is a devastating genetic disease affecting young boys resulting in the breakdown of the myelin sheath surrounding nerve cells in the brain and impaired function of the adrenal gland. It is diagnosed in about one out of every 17,000 births and if untreated, or diagnosed after the brain disease occurs, it is fatal. The affected boys look perfectly normal in the first few years of life and then can develop a fatal brain disease that leads to death rapidly between 4-8 years of age. This disease was made famous by the movie “Lorenzo’s Oil,” which offers a glimpse inside the world of a family stricken with ALD.
The standard of care is well established for ALD. One of the most important, and available life-saving therapies for ALD is hormone replacement for those patients with adrenal impairment. Since the early 1990’s, bone marrow transplantation has been shown to be effective in halting the brain disease in the affected boys but only when done before the neurologic symptoms become evident. Therefore, identifying the disease at birth can save the lives of the affected children. By 2010, several hundred ALD boys who were identified early by family screening have benefited from bone marrow transplantation as well as treatment for their adrenal impairment.
We can best treat and cure a disease like ALD by taking action as early as possible in a child’s life. Diagnosing ALD in newborns enables treatment for the life-threatening condition and informs women that they could pass the genetic disease on to their future unborn children.
Additional acknowledgements:
This work could have not been possible without the researchers seeking new therapies for ALD, the physicians caring for individuals with ALD, the families who adamantly fought for the screening test to be performed on all newborns, and the groups who have donated funds to advance our research. In particular we would like to thank these supporters:
ALD Newborn screening Development
Gerald Raymond , Minnesota Children’s Hospital; Silvia Tortorelli and Coleman Turgeon, Mayo Biomedical Genetics Laboratory; Walter Hubbard, Johns Hopkins Department of Medical Pharmacology; Fizza Majid and Susan Panney, the Maryland State Newborn Screening Program; Sarah Bradley, Michele Caggana, Joseph Orsini, and Beth Vogel, The New York State Newborn Screening Program
Funding
United Leukodystrophy Foundation, European Leukodystrophy Association, Myelin Project, Run 4 ALD, Brian’s Hope, Stop ALD Foundation, NIH: Newborn Screening Grant : HD057136 (Gerald Raymond, )NIH: Instrumentation API4000 1-S10 RR16798 (Walter Hubbard)
ALD families and ALD organizations
Elisa DeBellis Seeger – Aidan’s Law, Janice Sherwood – Fight ALD, Amber Salzman, PhD – Stop ALD, Jean and Kathleen Kelley – Brian’s Hope, Diane and Taylor Kane – Run4ALD, Florian Eichler – ALD Connect
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