Australia’s health ministers have agreed to add x-linked adrenoleukodystrophy (X-ALD) to Australia’s screening programs for male newborns and commissioned further work in relation to screening female newborns.
A communique from The Health Ministers Meeting in Hobart on 6 December 2024 said X-ALD had never been screened before in Australia’s newborn screening programs. States and territories would now take steps to ready their programs for implementation, the communique said.
Hearing loss can be a symptom of X-ALD, which is a genetic disorder that affects the brain and adrenal glands.
Other symptoms include difficulty understanding speech, vision loss, and behavioural changes. As the disease progresses, hearing loss can become more severe, and patients may develop auditory impairment or “word deafness” reflecting impairment in acoustic analysis of word sounds.
ALD is probably best known for the 1992 movie Lorenzo’s Oil, based on the true story of the Odone family and their quest to find a cure for their son, Lorenzo, who was diagnosed with ALD at age six.
The National Organisation for Rare Diseases (NORD) in the US said ALD was an X-linked recessive disorder caused by variations (mutations) in the ABCD1 gene. Because it is an X-linked disorder, males develop more serious complications than females, while some females have no symptoms.
“The signs and symptoms can vary widely, even among members of the same family,” NORD’s website states. “Some individuals have serious complications in infancy or childhood while others develop symptoms as adults. Some individuals do not develop symptoms until adulthood. The progression of the disorder can also vary.”
NORD said there were different forms of ALD. About 35% of affected males had childhood cerebral ALD and developed neurological symptoms between three and 10 years of age.
“Later on, they will develop additional symptoms including diminished clarity of vision (diminished visual acuity), hearing loss, gait difficulty, and eventually weakness and stiffness of limbs, convulsions or seizures,” it said,
“Eventually, affected children lose most neurological function and become totally disabled with blindness, deafness and inability to move voluntarily. The disorder will further progress to result in a vegetative state and death typically within two to three years from onset of neurological symptoms.”
NORD said some infants may be diagnosed through newborn screening, primarily through the examination of dried blood spots. If positive, a genetic test may identify the specific gene change mutation that causes the ALD.
In 2016, ALD was added to the Recommended Uniform Newborn Screening Panel (RUSP) in the United States, it said. But each state determines what specific disorders are included in its newborn screening program.
America’s ALD Alliance said 46 states and Washington D.C. were testing their babies for ALD.
The alliance said that “although there is currently no cure for ALD, it is treatable” and it was crucial that boys underwent bone marrow transplantation at the earliest signs of the disease.
“Through ALD newborn screening, affected children have the opportunity to benefit from lifesaving treatment. While treatment through a cord blood/stem cell transplant can slow the progression of the disease, it is not considered a cure,” the ALD Alliance said on its website.
Additionally, 90% of boys with ALD also have adrenal insufficiency which can be treated with medication.
The alliance said that in 2022, the FDA approved Bluebird Bio’s gene therapy treatment Skysona for childhood cerebral ALD. This offers an alternative to allogenic hematopoietic stem cell transplant, eliminating the need for a bone marrow match.
The Australian Department of Health and Aged Care said 300,000 newborns underwent bloodspot screening a year and about one in every 1,000 has a condition that would have otherwise gone undetected.
