A potential therapeutic strategy was identified for the first time in the world by a Japanese research group, and the findings were published in Nature Medicine.
The substance deemed as potentially effective is 5-ALA (aminolevulinic acid), which has been proven to be safe by the market in Japan based on adequate information (idk what you mean by this). 5-ALA use on model mice with ATR-X has shown a decrease in cognitive impairment associated with the ATR-X Syndrome. 5-ALA was expected to be approved quickly as treatment for ATR-X Syndrome as it is already on the market as a supplement.
However, as of April 2018, a change in the legal framework for clinical research made it mandatory to treat supplements in the same matter as pharmaceuticals if they are used for the treatment of diseases regardless if they are approved substances or not. As a result of this change, funding is necessary in the order of several million Japanese Yen for clinical trials and other research expenses for making the progress on the research of this treatment. Inadequate funds have already lead to a 2 year delay in further R&D.
During these 2 years, some patients have been taking the existing supplements at their own discretion. Some have experienced improvements while some have had little to no improvement. It is extremely frustrating to know a potentially effective substance has already been identified but cannot be properly developed due to changes in the legal framework, even though there can be positive improvements from it. The patients that experienced improvements were mostly very young patients, and some of them had tremendous progress, such as verbal communication. It is possible that newly born patients with ATR-X Syndrome in the future could greatly benefit from this potential treatment if it is appropriately developed into medication. We would like to push the Japanese government to modify the legal framework so that the R&D for the treatment of ATR-X syndrome can be realized with less difficulty, and at the same time appeal to the Japan Agency for Medical Research and Development (AMED) to fund the R&D for 5-ALA.
Research & Development
