<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT03822013</url>
  </required_header>
  <id_info>
    <org_study_id>97-01-30-36953</org_study_id>
    <nct_id>NCT03822013</nct_id>
  </id_info>
  <brief_title>Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)</brief_title>
  <acronym>EMTISTD</acronym>
  <official_title>Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Tehran University of Medical Sciences</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Mashhad University of Medical Sciences</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Kashan University of Medical Sciences</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Tehran University of Medical Sciences</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
    <is_us_export>No</is_us_export>
  </oversight_info>
  <brief_summary>
    <textblock>
      GM2 gangliosidosis is an autosomal recessive subtype of Lysosomal Storage Diseases in which,&#xD;
      Hexosaminidase A-B deficiency is caused by HEXA-B gene. HEXA deficiency is seen in Tay sachs&#xD;
      and HEXB deficiency causes Sandhoff disease.&#xD;
&#xD;
      Infantile forms of Sandhoff and Tay sachs are often lethal and management of the patients is&#xD;
      supportive including nutrition, hydration, seizure control and management of respiratory&#xD;
      problems. Recent studies have suggested new methods of treatment, such as enzyme replacement&#xD;
      therapy, bone marrow transplantation and substrate reduction therapy.&#xD;
&#xD;
      The first drug used in SRT was Miglustat. It was introduced in 1980 as an anti HIV agent and&#xD;
      later, it was registered under the trademark of Zavesca in 2009 and was used in treatment of&#xD;
      Gaucher and Niemann-Pick disease. Zavesca passes blood brain barrier, so causes reduction of&#xD;
      cholesterol and glycosphingolipids CNS neurons and relief of neurologic manifestations.&#xD;
      Improvements were seen in oculomotor function, cognition, swallowing, motor disturbances and&#xD;
      psychological problems after treatment with Zavesca. No effect has been proved on visceral&#xD;
      involvement. Weight loss during first year of treatment, diarrhea and dyspepsia are seen as&#xD;
      side effects.&#xD;
&#xD;
      Studies on SRT in lysosomal storage disease have different results. Some show improvements in&#xD;
      manifestations of Gausche, Sandhoff &amp; Tay sachs disease, while others show no valuable&#xD;
      benefit for this method of treatment.&#xD;
&#xD;
      Finding an effective treatment for these chronic diseases can improve quality of life for the&#xD;
      patients and their families, and also reduce costs for healthcare services. The controversy&#xD;
      persists and more studies are needed for judgment. So this study is done to evaluate the&#xD;
      effect of Miglustat therapy in Sandhoff and Tay sachs disease, and is believed to help for&#xD;
      further studies in this field.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This study is a case- control, open label clinical trial. Patients are all registered with&#xD;
      diagnosis of Sandhoff and Tay sachs, and recruited at children's medical center Tehran-IRAN.&#xD;
      Diagnosis is confirmed by enzyme level and genetic tests. Case group receive Miglustat&#xD;
      therapy for 1 year and frequently assessed. Patients in control group are also assessed for 1&#xD;
      year without receiving Miglustat.&#xD;
&#xD;
      Patients are evaluated for neurologic examination, seizure, nasogastric tube insertion,&#xD;
      aspiration pneumonia and quality of life at the beginning of study and every 3 months.&#xD;
      Miglustat is considered as an Orphan drug so clinical trials about this drug are designed&#xD;
      small and adjusted to limited population.&#xD;
&#xD;
      Variables in neurologic examination are Muscle tone, Muscular atrophy and contracture. motor&#xD;
      function is scored according to &quot;Gross Motor Function Classification System&quot; (GMFCS) and&#xD;
      quality of life is assessed by Infant Toddle Quality Of Life (ITQOL) questionnaire, with&#xD;
      confirmed validity and stability.&#xD;
&#xD;
      Data gathered during frequent visits is registered in check lists and analyzed with SPSS&#xD;
      version 18. Quantitative variables express with mean and standard deviation and qualitative&#xD;
      variables with frequency and percentile. Analysis of variance for repeated measurements&#xD;
      (ANOVA) and nonparametric freedman are tests using for comparisons of Outcomes. Sample size&#xD;
      is calculated by formula for clinical trials with repeated measures.&#xD;
&#xD;
      Miglustat is FDA approved for Gaucher and Niemann pick diseases. All patients fill the&#xD;
      informed consent and the nature of the study is explained to them. The information of&#xD;
      participants is kept confidential. They are informed about side effects of the drug. If any&#xD;
      cases at any time decides to exclude themselves from the study they are free to do so.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">January 14, 2019</start_date>
  <completion_date type="Anticipated">December 30, 2023</completion_date>
  <primary_completion_date type="Anticipated">December 15, 2023</primary_completion_date>
  <phase>Phase 3</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>Randomized</allocation>
    <intervention_model>Parallel Assignment</intervention_model>
    <intervention_model_description>Although randomized control trial is the gold standard for clinical trial studies; there are ethical concerns about placebo control group in rare diseases such as Sandhoff and Tay sachs diseases.</intervention_model_description>
    <primary_purpose>Supportive Care</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Hospitalization frequency change</measure>
    <time_frame>Baseline and 4, 8, 12 months after intervention and 1-year without intervention</time_frame>
    <description>Method of measurement is checklist.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Pneumonia aspiration frequency change</measure>
    <time_frame>Baseline and 4, 8, 12 months after intervention and 1-year without intervention</time_frame>
    <description>Method of measurement is checklist.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Seizure Frequency change</measure>
    <time_frame>Baseline and 4, 8, 12 months after intervention and 1-year without intervention</time_frame>
    <description>Method of measurement is checklist.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Route of feeding change</measure>
    <time_frame>Baseline and 4, 8, 12 months after intervention and 1-year without intervention</time_frame>
    <description>Method of measurement is checklist.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>motor function change</measure>
    <time_frame>Baseline and 4, 8, 12 months after intervention and 1-year without intervention</time_frame>
    <description>Method of measurement is checklist.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>quality of life change</measure>
    <time_frame>Baseline and 1year</time_frame>
    <description>A total score is reported according to Pediatric Quality Of Life Inventory Infant Scales. Total score range is between 0-45 and higher values represent worse outcomes.</description>
  </secondary_outcome>
  <number_of_arms>2</number_of_arms>
  <enrollment type="Anticipated">30</enrollment>
  <condition>GM2 Gangliosidosis</condition>
  <condition>Supportive Care</condition>
  <arm_group>
    <arm_group_label>Miglustat</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <description>Miglustat is administered, dose is adjusted according to Body Surface Area as below:&#xD;
&gt;1.25 : 200 mg TDS 0.88-1.25 : 200mg BID 0.73-0.88 :100mg TDS 0.47-0.73 : 100mg BID &lt;0.47 :100mg daily</description>
  </arm_group>
  <arm_group>
    <arm_group_label>No Miglustat</arm_group_label>
    <arm_group_type>No Intervention</arm_group_type>
  </arm_group>
  <intervention>
    <intervention_type>Drug</intervention_type>
    <intervention_name>Miglustat</intervention_name>
    <description>Treatment with Zavesca regimen based on body surface area as follows: SQRT [Height (cm) × Weight (kg)] / 3600 &lt;1.25 : 200mg TDS 0.88- 1.25: 200mg BID 0.73- 0.88: 100 mg TDS 0.47- 0.73: 100 mg BID &lt;0.47: 100 mg Daily</description>
    <arm_group_label>Miglustat</arm_group_label>
    <other_name>Zavesca</other_name>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Clinically and enzymatically suspected infants of Sandhoff (SD)/Tay-Sachs (TSD)&#xD;
             diseases followed confirmation by molecular study.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Renal impairment&#xD;
&#xD;
          -  Loss of follow up&#xD;
&#xD;
          -  Other systemic diseases&#xD;
&#xD;
          -  Concomitant drug therapy which may affect neurological system function&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>6 Months</minimum_age>
    <maximum_age>24 Months</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_contact>
    <last_name>Alireza Tavasoli, MD</last_name>
    <phone>00989155130257</phone>
    <email>alirezatavasoli236@gmail.com</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Sare Hoseinpour, MD</last_name>
    <phone>00989122103831</phone>
    <email>hosseipour.sare@gmail.com</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Kashan University Of Medical Sciences</name>
      <address>
        <city>Kashan</city>
        <state>Isfahan</state>
        <country>Iran, Islamic Republic of</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Ahmad Talebian, MD</last_name>
      <phone>00989131629456</phone>
      <email>Talebianmd@yahoo.com</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Mashhad University Of Medical Sciences</name>
      <address>
        <city>Mashhad</city>
        <state>Khorasan</state>
        <country>Iran, Islamic Republic of</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Mehran Beiraghi, MD</last_name>
      <phone>00989155080287</phone>
      <email>beiraghitm1@gmail.com</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Tehran University Of Medical Sciences</name>
      <address>
        <city>Tehran</city>
        <country>Iran, Islamic Republic of</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Alireza Tavasoli, MD</last_name>
      <phone>00989155130257</phone>
      <email>a_tavasoli@sina.tums.ac.ir</email>
    </contact>
    <contact_backup>
      <last_name>Sare Hoseinpour, MD</last_name>
      <phone>00989122103831</phone>
      <email>hosseinpour.sare@gmail.com</email>
    </contact_backup>
    <investigator>
      <last_name>Mahmoud Reza Ashrafi, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Motahare Talebian, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>Iran, Islamic Republic of</country>
  </location_countries>
  <reference>
    <citation>Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB. Infantile gangliosidoses: Mapping a timeline of clinical changes. Mol Genet Metab. 2017 Jun;121(2):170-179. doi: 10.1016/j.ymgme.2017.04.011. Epub 2017 Apr 29.</citation>
    <PMID>28476546</PMID>
  </reference>
  <reference>
    <citation>Villamizar-Schiller IT, Pabon LA, Hufnagel SB, Serrano NC, Karl G, Jefferies JL, Hopkin RJ, Prada CE. Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease. Eur J Med Genet. 2015 Mar;58(3):180-3. doi: 10.1016/j.ejmg.2014.12.009. Epub 2014 Dec 12.</citation>
    <PMID>25497207</PMID>
  </reference>
  <reference>
    <citation>Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G. Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S355-61. doi: 10.1007/s10545-010-9186-3. Epub 2010 Sep 4.</citation>
    <PMID>20821051</PMID>
  </reference>
  <reference>
    <citation>Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med. 2009 Jun;11(6):425-33. doi: 10.1097/GIM.0b013e3181a1b5c5.</citation>
    <PMID>19346952</PMID>
  </reference>
  <reference>
    <citation>Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Substrate deprivation therapy in juvenile Sandhoff disease. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S307-11. doi: 10.1007/s10545-009-1261-2. Epub 2009 Nov 4.</citation>
    <PMID>19898952</PMID>
  </reference>
  <reference>
    <citation>Tallaksen CM, Berg JE. Miglustat therapy in juvenile Sandhoff disease. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S289-93. doi: 10.1007/s10545-009-1224-7. Epub 2009 Nov 4.</citation>
    <PMID>19898953</PMID>
  </reference>
  <reference>
    <citation>Bembi B, Marchetti F, Guerci VI, Ciana G, Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG. Substrate reduction therapy in the infantile form of Tay-Sachs disease. Neurology. 2006 Jan 24;66(2):278-80. doi: 10.1212/01.wnl.0000194225.78917.de.</citation>
    <PMID>16434676</PMID>
  </reference>
  <reference>
    <citation>Jacobs JF, Willemsen MA, Groot-Loonen JJ, Wevers RA, Hoogerbrugge PM. Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease. Bone Marrow Transplant. 2005 Nov;36(10):925-6. doi: 10.1038/sj.bmt.1705155. No abstract available.</citation>
    <PMID>16151419</PMID>
  </reference>
  <reference>
    <citation>Jeyakumar M, Norflus F, Tifft CJ, Cortina-Borja M, Butters TD, Proia RL, Perry VH, Dwek RA, Platt FM. Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood. 2001 Jan 1;97(1):327-9. doi: 10.1182/blood.v97.1.327.</citation>
    <PMID>11133779</PMID>
  </reference>
  <verification_date>April 2023</verification_date>
  <study_first_submitted>January 22, 2019</study_first_submitted>
  <study_first_submitted_qc>January 29, 2019</study_first_submitted_qc>
  <study_first_posted type="Actual">January 30, 2019</study_first_posted>
  <last_update_submitted>April 22, 2023</last_update_submitted>
  <last_update_submitted_qc>April 22, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">April 25, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Tehran University of Medical Sciences</investigator_affiliation>
    <investigator_full_name>Tavasoli</investigator_full_name>
    <investigator_title>Principal investigator</investigator_title>
  </responsible_party>
  <keyword>Sandhoff Disease</keyword>
  <keyword>Tay-Sachs Disease</keyword>
  <keyword>Miglustat</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Gangliosidoses</mesh_term>
    <mesh_term>Gangliosidoses, GM2</mesh_term>
    <mesh_term>Tay-Sachs Disease</mesh_term>
  </condition_browse>
  <intervention_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Miglustat</mesh_term>
  </intervention_browse>
  <patient_data>
    <sharing_ipd>Yes</sharing_ipd>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT03822013
org study id: 97-01-30-36953
nct id: NCT03822013
lead sponsor: 
collaborator: 
collaborator: 
has dmc: Yes
is fda regulated drug: No
is fda regulated device: No
is us export: No
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.
This study is a case- control, open label clinical trial. Patients are all registered with
      diagnosis of Sandhoff and Tay sachs, and recruited at children's 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.
allocation: Randomized
intervention model: Parallel Assignment
intervention model description: Although randomized control trial is the gold standard for clinical trial studies; there are ethical concerns about placebo control group in rare diseases such as Sandhoff and Tay sachs diseases.
primary purpose: Supportive Care
masking: None (Open Label)
measure: Hospitalization frequency change
time frame: Baseline and 4, 8, 12 months after intervention and 1-year without intervention
description: Method of measurement is checklist.
measure: Pneumonia aspiration frequency change
time frame: Baseline and 4, 8, 12 months after intervention and 1-year without intervention
description: Method of measurement is checklist.
measure: Seizure Frequency change
time frame: Baseline and 4, 8, 12 months after intervention and 1-year without intervention
description: Method of measurement is checklist.
measure: Route of feeding change
time frame: Baseline and 4, 8, 12 months after intervention and 1-year without intervention
description: Method of measurement is checklist.
measure: motor function change
time frame: Baseline and 4, 8, 12 months after intervention and 1-year without intervention
description: Method of measurement is checklist.
measure: quality of life change
time frame: Baseline and 1year
description: A total score is reported according to Pediatric Quality Of Life Inventory Infant Scales. Total score range is between 0-45 and higher values represent worse outcomes.
arm group label: Miglustat
arm group type: Experimental
description: 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
arm group label: No Miglustat
arm group type: No Intervention
intervention type: Drug
intervention name: Miglustat
description: Treatment with Zavesca regimen based on body surface area as follows: SQRT [Height (cm) × Weight (kg)] / 3600 <1.25 : 200mg TDS 0.88- 1.25: 200mg BID 0.73- 0.88: 100 mg TDS 0.47- 0.73: 100 mg BID <0.47: 100 mg Daily
arm group label: Miglustat
other name: Zavesca
criteria: 
gender: All
minimum age: 6 Months
maximum age: 24 Months
healthy volunteers: No
last name: Alireza Tavasoli, MD
phone: 00989155130257
email: alirezatavasoli236@gmail.com
last name: Sare Hoseinpour, MD
phone: 00989122103831
email: hosseipour.sare@gmail.com
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
facility: 
status: Recruiting
contact: 
contact backup: 
investigator: 
investigator: 
country: Iran, Islamic Republic of
citation: Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB. Infantile gangliosidoses: Mapping a timeline of clinical changes. Mol Genet Metab. 2017 Jun;121(2):170-179. doi: 10.1016/j.ymgme.2017.04.011. Epub 2017 Apr 29.
PMID: 28476546
citation: Villamizar-Schiller IT, Pabon LA, Hufnagel SB, Serrano NC, Karl G, Jefferies JL, Hopkin RJ, Prada CE. Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease. Eur J Med Genet. 2015 Mar;58(3):180-3. doi: 10.1016/j.ejmg.2014.12.009. Epub 2014 Dec 12.
PMID: 25497207
citation: Masciullo M, Santoro M, Modoni A, Ricci E, Guitton J, Tonali P, Silvestri G. Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S355-61. doi: 10.1007/s10545-010-9186-3. Epub 2010 Sep 4.
PMID: 20821051
citation: Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med. 2009 Jun;11(6):425-33. doi: 10.1097/GIM.0b013e3181a1b5c5.
PMID: 19346952
citation: Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Substrate deprivation therapy in juvenile Sandhoff disease. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S307-11. doi: 10.1007/s10545-009-1261-2. Epub 2009 Nov 4.
PMID: 19898952
citation: Tallaksen CM, Berg JE. Miglustat therapy in juvenile Sandhoff disease. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S289-93. doi: 10.1007/s10545-009-1224-7. Epub 2009 Nov 4.
PMID: 19898953
citation: Bembi B, Marchetti F, Guerci VI, Ciana G, Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG. Substrate reduction therapy in the infantile form of Tay-Sachs disease. Neurology. 2006 Jan 24;66(2):278-80. doi: 10.1212/01.wnl.0000194225.78917.de.
PMID: 16434676
citation: Jacobs JF, Willemsen MA, Groot-Loonen JJ, Wevers RA, Hoogerbrugge PM. Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease. Bone Marrow Transplant. 2005 Nov;36(10):925-6. doi: 10.1038/sj.bmt.1705155. No abstract available.
PMID: 16151419
citation: Jeyakumar M, Norflus F, Tifft CJ, Cortina-Borja M, Butters TD, Proia RL, Perry VH, Dwek RA, Platt FM. Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood. 2001 Jan 1;97(1):327-9. doi: 10.1182/blood.v97.1.327.
PMID: 11133779
responsible party type: Principal Investigator
investigator affiliation: Tehran University of Medical Sciences
investigator full name: Tavasoli
investigator title: Principal investigator
mesh term: Gangliosidoses
mesh term: Gangliosidoses, GM2
mesh term: Tay-Sachs Disease
mesh term: Miglustat
sharing ipd: Yes