Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases

Who is this study for? Patients with infantile type of Sandhoff and Taysachs diseases
What treatments are being studied? Miglustat
Status: Recruiting
Location: See all (3) locations...
Intervention Type: Drug
Study Type: Interventional
Study Phase: Phase 3

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.

Participation Requirements
Sex: All
Minimum Age: 6 months
Maximum Age: 2
Healthy Volunteers: No

• Clinically and enzymatically suspected infants of Sandhoff (SD)/Tay-Sachs (TSD) diseases followed confirmation by molecular study.

Other Locations
Islamic Republic of Iran
Kashan University Of Medical Sciences
Mashhad University Of Medical Sciences
Tehran University Of Medical Sciences
Contact Information
Alireza Tavasoli, MD
Sare Hoseinpour, MD
Time Frame
Start Date: January 14, 2019
Estimated Completion Date: March 15, 2023
Target number of participants: 30
Experimental: Miglustat
Miglustat is administered, dose is adjusted according to Body Surface Area as below:~>1.25 : 200 mg TDS 0.88-1.25 : 200mg BID 0.73-0.88 :100mg TDS 0.47-0.73 : 100mg BID <0.47 :100mg daily
No Intervention: No Miglustat
Motahare Talebian, Mahmoud Reza Ashrafi
Collaborators: Mashhad University of Medical Sciences, Kashan University of Medical Sciences
Leads: Tehran University of Medical Sciences

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