In a recent press release, biopharmaceutical company Fortress Biotech announced that their study regarding ATP7A targeted next generation DNA sequencing for Menkes disease was published in Molecular Genetics and Metabolism Reports. The copper metabolism disorder is frequently fatal before the age of 3 if untreated. However, the study suggests that using this new technique could aid in early detection and thus more effective treatment.
Menkes Disease
Menkes disease, or Menkes syndrome, is a X-linked recessive (inherited) disorder that affects how the body processes and manages copper levels. Caused by ATP7A gene mutations, Menkes disease (MD) mostly affects the nervous system. Because the body has difficulty transferring copper throughout the body, some organs don’t receive enough, while it accumulates in other areas. Males are affected at a much higher rate than females.
Symptoms of Menkes disease usually appear within a few months of birth and may include:
- Failure to thrive
- Seizures
- Dry skin
- Poor developmental growth
- Sparse, brittle, or kinky hair that is often gray or white
- Twisted blood vessels
- Low muscle tone
- Palate abnormalities
- Fatigue
- Difficulty feeding
- Jaundice
- Skin hyper-elasticity
Treatment
Currently, there are no FDA-approved treatments. However, some studies suggest that treating infants with copper may improve their survival rates. In these cases, early detection is imperative.
Cyprium Therapeutics, founded by Fortress Biotech, is one organization looking to develop new treatments for Menkes disease and related disorders. Their drug candidate CUTX-101 is currently in development. The drug replenishes copper histidinate in the body, assisting with copper level management. In a Phase 1/2 clinical trial, CUTX-101 showed promise in treating patients; it not only improved survival rates, but also benefited neurodevelopment. CUTX-101 received Fast Track, Rare Pediatric Disease, and Orphan Drug designations.
Learn more about Menkes disease here.
Study Findings
Newborn Screening for Genetic Disorders
Newborn screening plays an important role in the early detection and treatment of various diseases and disorders. According to the NIH:
Newborn screening is the practice of testing all babies in their first days of life for certain disorders and conditions that can hinder their normal development. This testing is required in every state and is typically performed before the baby leaves the hospital.
During newborn screening, doctors test for conditions such as:
- Phenylketonuria (PKU)
- Sickle cell disease
- Cystic fibrosis
- Hearing loss
However, testing for Menkes disease is currently not available. But the study, headed by Fortress Biotech in conjunction with The Menkes Foundation, suggests a potential new diagnostic test: ATP7A targeted next generation DNA sequencing.
Developing a Diagnostic Solution for Menkes Disease
To come up with this solution, researchers analyzed dried blood from either healthy controls or patients with Menkes disease. During this time, researchers were not aware of which blood samples were from which group. While examining these samples, researchers looked for ATP7A mutations. Ultimately, their algorithm correctly found mutations in 21 out of the 22 patients with Menkes disease.
This process of targeted next generation sequencing is more efficient, more accurate, and more cost-effective than other methods. As a result, implementing it alongside current newborn screening methods could potentially increase early detection.
