Health 21 patients with Wolfram syndrome undergo the first global trial

A total of 21 patients with Wolfram syndrome are already undergoing the world’s first trial of the efficacy of a drug to treat this weird illness. With the Almeria doctor Gema Esteban Bueno at the forefront of the international initiative, the object of the initiative is none other than to find drugs that can treat the disease, one of these being valproic acid, which reduces cell death in Wolfram syndrome.

A randomized, controlled trial of Wolfram syndrome that seeks to demonstrate valproic acid’s safety and effectiveness in people with Wolfram syndrome, which began last October and will last for 36 months. A comprehensive monitoring of any adverse effect, through meticulous measurements of vision, brain volume and other aspects, and consists of a sample of 70 children and adults with Wolfram syndrome from 5 centers located in different European cities: Birmingham (United Kingdom), Almería ( Spain), Paris and Montpellier (France) and Lodz (Poland).

The clinical trial, led by Dr. Timothy Barrett, of the University of Birmingham, “is based on developing a treatment that prevents or delays the progression of Wolfram syndrome since, currently, there is no Pharmacotherapy curative ”, Dr. Esteban pointed out, who has detailed that so far the trial has started in Almería and the United Kingdom. France will start with the first patient shortly and Poland will do so later. “From the United Kingdom they recommended that we see a patient every 25 days approximately, so at this time in Almería we have 6 people from different parts of Spain”.

The initiative of Dr. Gema Esteban Bueno (Almería Health District), coordinator of the multidisciplinary team for Wolfram syndrome in Spain; President of the Spanish Association for Research and Assistance to Wolfram syndrome which he founded in 1999, has the involvement of highly motivated professionals to improve the quality of life of patients with Wolfram Syndrome and who belong to the Almería District, Hospital La Inmaculada de Huércal-Overa, Hospital Torrecárdenas, University of Almería and even, professionals from other regions such as those belonging to the CIB-CSIC (Madrid), Murcian Health Service and Basque Health Service.

Since 2011, this team has evaluated patients from all over Spain and Portugal in Almería. Currently there is no approved drug treatment for Wolfram Syndrome. In the absence of it, the clinical approach of the Signs and symptoms of the individual components (diabetes mellitus, optic atrophy, diabetes insipidus and deafness).

Sodium Valproate (VPA) is classified as a anticonvulsant. It is widely used throughout the world to treat epilepsy, migraine, chronic headache, bipolar disorder, and as adjunctive chemotherapy. Specifically for Wolfram Syndrome, sodium valproate is expected to influence the clinical manifestations derived from the genetic alterations that these patients carry. It is expected that the clinical involvement will slow or even stop, mainly reducing the progression of neurodegeneration of the disease, which in addition to being the main cause of death is the one that most limits them due to the instability it produces, the loss of vision, hearing and catheterization requirements due to her neurogenic bladder.

The Medical Technological Clinic (CTM) also collaborates in this initiative and thus becomes the only clinic for radiodiagnosis from Spain that participates in this study, a fact worth mentioning because “research is what moves us, it is an important part of medical practice because with this we try to contribute our grain of sand so that scientific advances serve to bring light in the diagnosis and treatment of diseases and thus improve the lives of patients ”, acknowledged Martín García, radiologist and medical director of the Clinic.

He diagnosis of this syndrome has an important impact on the psychosocial sphere of the affected person (they have a cognitive level without affectation) and their family, since its progressive nature carries a poor prognosis and reduces life expectancy. The age of death described is around 35 years, however Dr. Gema Esteban tells us that “thanks to the adequate control that is currently carried out on those affected with this syndrome, life expectancy is increasing”.

A progressive neurodegenerative disease

Wolfram syndrome is a progressive neurodegenerative disease that begins in childhood. The presence in children and adolescents of vision problems derived from the degeneration of the optic nerve (optic atrophy) that associated with insulin-dependent diabetes mellitus is a clinical criterion for the diagnosis of this syndrome. The first manifestation is usually diabetes mellitus that usually occurs before the end of the first decade of life (at a mean age of 6 years), it is usually followed by optic nerve atrophy that occurs in the second decade (around 11 years) and that initially, it manifests as a decrease in visual acuity and difficulty in seeing colors and will progress to blindness. In the second decade, sensorineural hearing loss also begins to appear (around 16 years) initially, only the high frequencies will be affected and will evolve, and central diabetes insipidus (around 14 years). Other disorders to be highlighted are urinary tract abnormalities that appear in the third decade (around 20 years), neurological complications around the fourth decade of life (around 35 years), hypogonadism in men and throughout the evolution of the Syndrome presents different mental health problems (adjustment disorders, severe depression, psychosis and aggressiveness, especially in patients homozygous for the disease).

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