Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)
Status:
Recruiting
Trial end date:
2021-12-30
Target enrollment:
Participant gender:
Summary
GM2 gangliosidosis is an autosomal recessive subtype of Lysosomal Storage Diseases in which,
Hexosaminidase A-B deficiency is caused by HEXA-B gene. HEXA deficiency is seen in Tay sachs
and HEXB deficiency causes Sandhoff disease.
Infantile forms of Sandhoff and Tay sachs are often lethal and management of the patients is
supportive including nutrition, hydration, seizure control and management of respiratory
problems. Recent studies have suggested new methods of treatment, such as enzyme replacement
therapy, bone marrow transplantation and substrate reduction therapy.
The first drug used in SRT was Miglustat. It was introduced in 1980 as an anti HIV agent and
later, it was registered under the trademark of Zavesca in 2009 and was used in treatment of
Gaucher and Niemann-Pick disease. Zavesca passes blood brain barrier, so causes reduction of
cholesterol and glycosphingolipids CNS neurons and relief of neurologic manifestations.
Improvements were seen in oculomotor function, cognition, swallowing, motor disturbances and
psychological problems after treatment with Zavesca. No effect has been proved on visceral
involvement. Weight loss during first year of treatment, diarrhea and dyspepsia are seen as
side effects.
Studies on SRT in lysosomal storage disease have different results. Some show improvements in
manifestations of Gausche, Sandhoff & Tay sachs disease, while others show no valuable
benefit for this method of treatment.
Finding an effective treatment for these chronic diseases can improve quality of life for the
patients and their families, and also reduce costs for healthcare services. The controversy
persists and more studies are needed for judgment. So this study is done to evaluate the
effect of Miglustat therapy in Sandhoff and Tay sachs disease, and is believed to help for
further studies in this field.
Phase:
Phase 3
Details
Lead Sponsor:
Tehran University of Medical Sciences
Collaborators:
Kashan University of Medical Sciences Mashhad University of Medical Sciences