(by Nina Horn)

The blood-brain barrier is an important consideration when creating drugs that must act against brain cells. The barrier functions to regulate the delicate balance of the brain. The barrier is differently permeable to different compounds and has presented a challenge in treating Wilson’s disease, but from this we know that there are some drugs that could potentially deliver copper. These avenues are being explored to develop new drug delivery methods in Menkes patients.

(by Francesc Palau)

In a disorder that has an early onset in the first month of life, such as Menkes disease, early diagnosis is critical to start copper histidinate treatment as soon as possible. Currently, Menkes disease is identified in one of two ways :

• Clinical anticipation: increasing clinical awareness in primary care neonatologists and pediatricians, thorough knowledge of the classic forms of onset including loss of developmental milestones with hypotonia, seizures and growth retardation, temperature instability and hypoglycemia may also be present. But often Menkes is not suspected until infants present with neurological changes and the concomitant characteristic hair changes (short, sparse, rough, twisted, and often slightly pigmented). But while increasing awareness of Menkes in pediatric providers would be helpful, the rarity of Menkes means many clinicians will dismiss it until other, more probable, diagnosis have been ruled out.
• Incorporate Menkes disease into neonatal screening: There is currently no biochemical marker that allows a definitive diagnosis, so screening is dependent on genetic analysis of the ATP7A gene. Screening for Menkes with a neonatal genetic screen using NGS technology (next generation sequencing) would provide earlier, lifesaving diagnoses.

(by Francesc Palau)

Menkes is an ultra-rare disease. The occurrence is less than 1 in 50,000 people, which makes it difficult to gain information about it. Most carriers of Menkes are unaware and thus wont be referred to a specialist or genetic counselor. The low prevalence and geographic dispersion also means that there is little or no clinical experience among health care workers.

(by Francesc Palau)

Rising awareness of the existence of such a rare and lethal disease like Menkes is difficult and requires extensive effort. Parents and families play a fundamental role in this. A first step is for parents to work as a team with the medical providers treating their children. They can participate in research studies and communities to share information that will contribute to improve early diagnosis, better clinical management, improve research aimed at understanding the mechanisms of the disease and create therapeutic options and participate in clinical trials.

(By Francesc Palau)

This is a very difficult question to answer because I don’t want to take hope away from parents. The neurodegenerative picture with the appearance of seizures marks an important point in natural history. Possible respiratory complications, such as pneumonia, or cerebrovascular problems (due to the tortuosity of the cerebral arteries) must also be taken into account. Although it is variable, children die between 7 months and 3.5 years of age. Early copper histidinate improves prognosis, although not in all children.