Patient Worthy partner Alex TLC has announced that, in a large-scale newborn screening study supported by the UK’s NHS and Genomics England, adrenoleukodystrophy (ALD) and metachromatic leukodystrophy (MLD) will be screened in 100,000 newborns. This study, part of Genomics England’s Newborn Genomes Program, is known as the Generation Study.
The Generation Study will screen babies for a range of rare genetic conditions. The research aims to evaluate the challenges, benefits, and logistical aspects of large-scale newborn screening in the UK under the NHS. This newborn screening will involve whole-genome sequencing, which is much more extensive than typical screening methods. The study also aims to enable further research into therapies and other areas of study in rare diseases. This research may also offer an opportunity to expand the scope of newborn screening in the country, which currently includes only nine conditions.
The research period will commence in October this year and conclude in April 2025. 30 NHS trusts across the country will participate, and parents will be offered the opportunity to join when their pregnancy reaches 20 weeks.
While this news doesn’t guarantee the addition of these conditions to the NHS newborn screening panel, the inclusion of these disorders in the study still provides hope for a future with more effective and comprehensive screening.
About Adrenoleukodystrophy (ALD)
ALD is a genetic disease which is linked to the X chromosome. It is most characterized by the accumulation of fatty acids because the enzymes that process them are not functioning normally. This leads to damage of the myelin sheath, an insulating, fatty layer that coats nerve cells and is essential to their function. ALD is caused by mutations that affect the ABCD1 gene. The presentation of this disease varies significantly. This makes the process of diagnosis very difficult in many cases. Some patients have no symptoms, but when they do appear, they often include neurodegeneration, paraparesis, neuropathy, behavioral abnormalities, adrenal insufficiency, and dementia. Symptoms often progress in severity without treatment. Treatment of adrenoleukodystrophy may include gene therapy, stem cell transplant, and changes in diet. These treatments are often only effective in the early stages of the disease. To learn more about ALD, click here.
About Metachromatic Leukodystrophy (MLD)
MLD is a group of genetic disorders which are most characterized by the degeneration of the brain’s white matter. The disorder is linked to a mutation causing a deficiency of the ARSA enzyme, which prevents the normal generation and development of the myelin sheath in the central nervous system, an insulating, protective cover that protects nerve cells and are critical for their regular functioning. While the disease most frequently appears in the first year or two of life, signs can appear as late as adulthood. Symptoms and signs include problems walking, developmental delays, muscle stiffness and spasticity, convulsions, difficulty swallowing, hearing loss, paralysis, and loss of mental function. Treatment often focuses on relieving symptoms, which can improve lifespan and quality of life; however, the disease is ultimately fatal. There is no known cure for MLD. To learn more about MLD, click here.