Pain in the hands, feet and abdomen, little or no sweating and skin lesions
before the age of 10
are some of the symptoms that outline a strange condition that is part of the group of Rare Diseases (EPOF) and that
one of each suffers.
40 thousand people
.
This is Fabry Disease, whose
early
diagnosis and treatment is key.
The drama of the patients, in addition to suffering from the disease, is the difficulty in
accessing the medication
that prevents the disorder from progressing.
But these are
drugs that cost millions
, which patients cannot buy nor do pharmacies sell.
They must be guaranteed by social works, prepaid or the State, and in a context of growing crisis in the health system the obstacles increase.
Clarín
spoke with patients whose access to these remedies suffers
intermittency
due to interruptions in coverage, which increases anguish.
The
consequences of this deficiency for health and life
are high.
According to Paula Rozenfeld, a biochemist at the Faculty of Exact Sciences of the University of La Plata, “around 20 years of age, angiokeratomas
grouped in specific areas
(navel, “swimsuit,” mucous membranes), proteinuria, and fever attacks are observed.
, edema, heat and exercise intolerance, auditory and vestibular manifestations.”
The expert adds, in a Conicet publication, that “with the
progression of the disease
, around the fourth decade of life, the target organs that
can cause death
are affected , thus reducing life expectancy: kidney failure, hypertrophy cardiac ventricular and cerebrovascular accidents.
The disease is
of genetic origin
characterized by the absence of the enzyme Alpha galactosidase, which helps the digestion of certain fatty substances, whose accumulation in cells
causes damage to different organs
.
Medication replaces that function that the body lacks.
If this does not occur,
signs and symptoms
can be observed at the cardiovascular, kidney, nervous system and skin levels, progressively.
A mural by Martín Ron inspired by rare diseases, in Parque Patricios.
Diagnosis requires
multidisciplinary collaboration
between geneticists, nephrologists, neurologists, pediatricians, dermatologists and cardiologists.
“Early detection is essential to begin treatment as soon as possible, whether
intravenous enzyme replacement
or
oral therapy
in patients with susceptible mutations,” explains Juan Manuel Politei, neurologist at the Spine Foundation, dedicated to the treatment and research of EPOF.
Medication up to 30% cheaper
In this difficult context, the novelty is that the first Fabry Disease
drug
manufactured in Argentina has just been put on the market , the cost of which is - reportedly
- 30 percent cheaper
than the available imported and most used option.
“The medication is
administered orally
every other day.
The latter differentiates it from enzyme replacement treatments, which involve invasive
intravenous
procedures with a biweekly frequency and reduces the cost for the health system.
In turn, it prevents the formation of antibodies that limit long-term effectiveness,” adds Politei.
Scientists during research into one of the national drugs being launched.
Photo: Pablo Añeli
According to a study published in the New England Journal of Medicine, the drug showed the effectiveness of the treatment by confirming that an early start is associated with
stability of heart and kidney function
.
Other studies showed a good response on
gastrointestinal
and
peripheral nervous system
manifestations .
The drug, called
migalastat
, had already been launched internationally and now the Gador laboratory will produce it in the country.
This medication marks a before and after due to the fact that it is the first to be manufactured in the country, but
it will not be the only one
.
Another treatment developed by the Biosidus laboratory is expected to hit the market in 2025, after completing the clinical trial that went through phase 3 last year and will be developed in the mAbxience laboratory.
Thus, Argentina will become the second country, after Japan, to design and produce
agalsidase beta
, a biosimilar drug - biologically based and at a lower cost - for this pathology.
Now we will have to see what the doctors' position is regarding the
reception
of these new national alternatives, based on the fact that all patients in treatment have been receiving
imported drugs
until now .
Those who will surely not hesitate to assume these launches as good news are the financiers.
P.S.