A patient of Vall d'Hebron becomes the first in the world to start treatment with MIN-102 for the adrenomyeloneuropathy (AMN) within the ADVANCE study. The biopharmaceutical company Minoryx Therapeutics - specializing in the development of new drugs for orphan diseases - carries out this clinical trial in phase II/III, double-blind and placebo-controlled to confirm the efficacy and safety of this drug against the AMN. The final results of the study are expected by the end of the 2020.The forecast is to recruit more than 100 patients from eight countries of the European Union and the United States. The profile that was selected for this study corresponds to the adult males affected by AMN, which is the most common phenotype X-linked adrenoleukodystrophy (X-ALD) and for which there is currently no medical treatment. "We are proud to be the first centre to treat a patient with AMN. The fact of being in Barcelona has provided us with a proximity to Minoryx that has been of great help in the preparatory phase of the study" explains Dr. Josep Gamez, Vall d'Hebron ALS multidisciplinary Unit Coordinator and head of the research group of the Peripheral Nervous System of the Vall d'Hebron Research Institute (VHIR). Since 2015, Dr. Gamez has been participating in the ALDPIO study Developing new therapies for the treatment of X-linked adrenoleukodystrophy. This project was awarded by the Ministry of Economy, Industry and Competitiveness through the RETOS program, but in agreement with Minoryx it was decided to decline the grant and bet on internationalizing the project, as has happened now.Vall d'Hebron, state reference in Rare DisordersThe Neuromuscular Diseases Unit of Vall d'Hebron Barcelona Hospital Campus is a benchmark centre in Spain for the volume of patients with 'rare disorders' that it treats, more than 6,000. "Their commitment is to a translational medicine in which patients are the first to benefit from the economic resources invested in R&D, both from public and private funds," comments Dr. Gámez. And, in addition, "we have a particular sensitivity for the development of drug repositioning, that is, for looking for new indications in already approved drugs in order to save costs in the research process and shorten the time needed for patients to access these treatments", he adds.Dr. Gámez is coordinator of the CSUR (Centres, Services and Reference Units of the National Health System) in Ataxias and Hereditary Paraplegia and of the CSUR in Rare Neuromuscular Diseases. He also coordinates the European Network ERN Neuromuscular Disorders and is responsible for the care of adults at the Vall d'Hebron Hospital within the European Network of Rare Neurological Diseases - ERN (RND-ERN). X-linked adrenoleukodystrophyX-linked adrenoleukodystrophy is a rare inherited disease caused by mutations in the ABCD1 gene (Xq28 region) that encodes a peroxisomal transmembrane protein (ALDP) involved in the transport of very long-chain fatty acid CoA-esters. As a result of this genetic alteration is an accumulation of very long-chain fatty acids (VLCFA) mainly in the nervous system and adrenal glands. The estimated prevalence of the disease is of approximately 1 out of 20.000 males. The transmission is linked to the X chromosome, that is, only males will develop the disease. Some female carriers, starting from the fourth decade of life, may have symptoms similar to AMN although less intense and a much slower progression.Various phenotypes of the disease are known, although the two most frequent are the rapidly progressive cerebral demyelinating infant form (RCCS) and the adrenomyeloneuropathic variant (AMN). Children with CCER have behavioural deficits, cognitive and neurological progressive, which often leads to a total disability in less than 3 years.The AMN variant is presented as a spastic paraparesis slowly progressive with bladder and sexual dysfunction and peripheral adrenocortical insufficiency, with debut in the third or fourth decade of life. Both phenotypes are often misdiagnosed, such as attention-deficit/hyperactivity disorder (ADHD), familial spastic paraplegia, multiple sclerosis, or idiopathic Addison's disease.There is as yet no treatment for adrenomyeloneuropathy (AMN). Lorenzo's oil can normalize plasma levels of VLCFA but is not effective in stopping disease progression.There is no approved treatment for childhood brain forms, although allogeneic hematopoietic stem cell transplantation (aHSCT) has been tried. This type of treatment carries several risks, including treatment-related mortality, graft rejection, graft-versus-host disease, and opportunistic infections. The results of a clinical trial of early-stage gene therapy in children have recently been published.Genetic tests for the detection of pre-symptomatic males and genetic counselling should be offered to parents and relatives of those affected.MIN-102MIN-102 is the most advanced international product for the treatment of adrenomyeloneuropathy (AMN). It is a selective agonist of PPAR gamma, bioavailable orally. It is a metabolite of pioglitazone that has shown a superior profile in terms of brain penetration and safety, allowing a significantly higher effect on PPAR gamma in the central nervous system than can be achieved with safe doses of pioglitazone or other glitazones. In the first quarter of 2017, the Phase I trial was successfully completed, confirming that it is well tolerated, that it can cross the blood-brain barrier and that it can modulate the gamma PPAR receptor in the central nervous system to the same level as that achieved in preclinical studies. MIN-102 has received orphan drug designation for the treatment of X-ALD in both the EU and the US.