Ignite Creation Date:
2024-05-06 @ 12:41 PM
Last Modification Date:
2024-10-26 @ 1:02 PM
Study NCT ID:
NCT03822013
Status:
RECRUITING
Last Update Posted:
2024-04-16
First Post:
2019-01-22
Brief Title:
Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases EMTISTD
Sponsor:
Tehran University of Medical Sciences
Organization:
Tehran University of Medical Sciences
Study Overview
Official Title:
Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases
Status:
RECRUITING
Status Verified Date:
2024-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
EMTISTD
Brief 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
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
Detailed Description:
This study is a case- control open label clinical trial Patients are all registered with diagnosis of Sandhoff and Tay sachs and recruited at childrens medical center Tehran-IRAN Diagnosis is confirmed by enzyme level and genetic tests Case group receive Miglustat therapy for 1 year and frequently assessed Patients in control group are also assessed for 1 year without receiving Miglustat
Patients are evaluated for neurologic examination seizure nasogastric tube insertion aspiration pneumonia and quality of life at the beginning of study and every 3 months Miglustat is considered as an Orphan drug so clinical trials about this drug are designed small and adjusted to limited population
Variables in neurologic examination are Muscle tone Muscular atrophy and contracture motor function is scored according to Gross Motor Function Classification System GMFCS and quality of life is assessed by Infant Toddle Quality Of Life ITQOL questionnaire with confirmed validity and stability
Data gathered during frequent visits is registered in check lists and analyzed with SPSS version 18 Quantitative variables express with mean and standard deviation and qualitative variables with frequency and percentile Analysis of variance for repeated measurements ANOVA and nonparametric freedman are tests using for comparisons of Outcomes Sample size is calculated by formula for clinical trials with repeated measures
Miglustat is FDA approved for Gaucher and Niemann pick diseases All patients fill the informed consent and the nature of the study is explained to them The information of participants is kept confidential They are informed about side effects of the drug If any cases at any time decides to exclude themselves from the study they are free to do so
Patients are evaluated for neurologic examination seizure nasogastric tube insertion aspiration pneumonia and quality of life at the beginning of study and every 3 months Miglustat is considered as an Orphan drug so clinical trials about this drug are designed small and adjusted to limited population
Variables in neurologic examination are Muscle tone Muscular atrophy and contracture motor function is scored according to Gross Motor Function Classification System GMFCS and quality of life is assessed by Infant Toddle Quality Of Life ITQOL questionnaire with confirmed validity and stability
Data gathered during frequent visits is registered in check lists and analyzed with SPSS version 18 Quantitative variables express with mean and standard deviation and qualitative variables with frequency and percentile Analysis of variance for repeated measurements ANOVA and nonparametric freedman are tests using for comparisons of Outcomes Sample size is calculated by formula for clinical trials with repeated measures
Miglustat is FDA approved for Gaucher and Niemann pick diseases All patients fill the informed consent and the nature of the study is explained to them The information of participants is kept confidential They are informed about side effects of the drug If any cases at any time decides to exclude themselves from the study they are free to do so
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
False
Is an FDA AA801 Violation?:
None