At present several clinical trials are conducted for the treatment of certain Lysosomal Storage Diseases (LSD) but faced with multiple challenges.one such challenge is that the results of ERT are not promising. Enzyme Replacement Therapy (ERT) is primarily used in LSD treatments, however the progress has not been satisfactory in some of the LSDs like Pompei Disease. It has been noted that ERT treatment fails to control the gradual weakening of muscular strength thereby not causing any improvement in the original condition. Likewise, in case of Fabry disease, the symptoms continue to evolve and pose a threat of inheritance by the future generations.

Another noteworthy challenge for the clinical trials is the social stigma and discrimination associated with these LSDs. It has become difficult for LSD patients to find employment and even has resulted in immediate termination of employment upon diagnosis of LSD.  

Clinical trials as an option of treatment

On a positive note, Professor Ohashi (from The Jikei University School of Medicine, Tokyo) is currently jointly endeavouring with Child Health and Development Centre for early diagnosis of the LSDs, such as Pompei disease. Neonatal screenings have been very helpful in early diagnosis of LSDs. In an interview with 3H Medi Solution Inc., Prof Ohashi shared his views on how neonatal screening would lead to an increased number of diagnosed cases of LSDs. Statistically speaking, Tokyo itself is projected to have high incidence of Neonatal Fabry Patients (1 in few 10,000) when compared with the reference benchmark of Infant Leukaemia statistics (1 in 30000).

Therapeutic Treatments are also showing progress, wherein Enzyme Replacement Therapy based clinical trials are being augmented by jointly administering Chaperone (protein) with the Enzymes to bring about improved results. Additionally, Professor Ohashi also expects Gene Therapy to become mainstream as he is currently advising several drug manufacturers who has the potential to launch gene therapy as a treatment for LSD.

CLINICAL TRIALS AND PATIENT AWARENESS

Voluntary participation of patients with a positive mindset towards clinical trials is important. A patient himself needs to take the primary initiative and seek new treatments and medicines. For instance, clinical trials at Jikei are not publicized by Jikei itself, however patients from all over Japan (Kyushu, Tottori etc.)  attend these trials by their own free will after usually learning about the trials from patient communities and family physicians. Jikei  also attracts patients because it is a one of the few renowned facilities for diagnosing LSD

In the past enrolling rare disease patients in Clinical trials was extremely challenging as, they statistically affect roughly 1 in 7,700 births, thus not very uncommon now. Over the time the situation has improved to some extent. but Some patients are still reluctant to try new treatments or may even refuse participation in trials due to biosimilars or lack of differentiation between old and new drugs. At the same time a strong awareness is also thriving amongst patients of hereditary disorders like Fabry Disease, wherein the patients want to cooperate for development of new medicines where there are limited treatment options for the sake of their children rather than for themselves

Last but not the least, Doorstep Clinical Trial, Remote Clinical Trial are projected to become the next trend. However, once these treatments are launched in the market it is simultaneously necessary to address the issues of medical environment, drug management and high medicinal costs. Clinical Trials of Gene therapy is also expected to become a future trend in Tokyo.

For the patient centeric clinical study support, please contact us at imran@3h-ms.co.jp