<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/NCT01665326</url>
  </required_header>
  <id_info>
    <org_study_id>Pro00001562</org_study_id>
    <nct_id>NCT01665326</nct_id>
  </id_info>
  <brief_title>Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease</brief_title>
  <official_title>Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-up of Individuals With Pompe Disease</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Duke University</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Genzyme, a Sanofi Company</agency>
      <agency_class>Industry</agency_class>
    </collaborator>
  </sponsors>
  <source>Duke University</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      This is a longitudinal natural history study of Infantile Pompe disease. The investigators&#xD;
      will regularly collect and review medical information regarding the diagnosis of Pompe&#xD;
      disease, response to enzyme replacement (ERT) using alglucosidase alfa (Lumizyme/Myozyme) and&#xD;
      response to immunosuppressive therapy in cases at risk for developing or those who have&#xD;
      developed high and sustained antibodies to ERT. To follow the long-term outcomes, we will&#xD;
      collect medical records including but not limited to the diagnosis, clinical parameters,&#xD;
      assessments for clinical monitoring, and laboratory values including antibody testing&#xD;
      results.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Infantile-onset Pompe disease is an inherited disorder caused by lack of or defect in the&#xD;
      enzyme acid alpha-glucosidase (GAA). GAA enzyme deficiency causes glycogen to build up and&#xD;
      damage cells throughout the body, especially in the heart and muscles, which is normally&#xD;
      diagnosed within the first months of life. Current treatment for Pompe disease involves&#xD;
      enzyme replacement therapy (ERT) using the drug alglucosidase alfa (Lumizyme/Myozyme), which&#xD;
      provides a form of the GAA enzyme to replace the enzyme that is missing or not working&#xD;
      properly in the patient's blood.&#xD;
&#xD;
      In this study, the investigators will learn about the patient's ability to tolerate ERT.&#xD;
      Cross-Reactive Immunological Material (CRIM) is a measurement of natural GAA production and&#xD;
      an important factor that affects how patients respond to ERT. Children who produce some&#xD;
      natural GAA are classified as CRIM-positive, while children who do not produce any natural&#xD;
      GAA are classified as CRIM-negative. Children who are CRIM-positive generally tolerate ERT&#xD;
      well. But, children who are CRIM-negative, and some children classified as CRIM-positive,&#xD;
      have a poor response to ERT due to complications from an immune response against the drug.&#xD;
      Treatments are currently being developed to stop this immune response and prevent&#xD;
      complications from ERT.&#xD;
&#xD;
      This is a longitudinal natural history study of Infantile Pompe disease. The investigators&#xD;
      will regularly collect and review medical information regarding the diagnosis of Pompe&#xD;
      disease, response to enzyme replacement (ERT) using alglucosidase alfa (Lumizyme/Myozyme) and&#xD;
      response to immunosuppressive therapy in cases at risk for developing or those who have&#xD;
      developed high and sustained antibodies to ERT.&#xD;
&#xD;
      The specific aims of this study are:&#xD;
&#xD;
        1. To correlate CRIM status determined in a blood sample or cultured skin fibroblasts with&#xD;
           GAA gene variants that are causing your child's Pompe disease.&#xD;
&#xD;
        2. To explore the clinical treatment response and natural history of CRIM-positive and&#xD;
           CRIM-negative Pompe disease patients with and without immune modulation.&#xD;
&#xD;
        3. To investigate the role of immune response to treatment (IgG and IgE) including immune&#xD;
           phenotyping.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date>September 2009</start_date>
  <completion_date type="Anticipated">September 2024</completion_date>
  <primary_completion_date type="Anticipated">September 2024</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Clinical response to enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme)</measure>
    <time_frame>Up to 18 years</time_frame>
    <description>Medical records will be tracked until the patient reaches the age of 18 years to follow clinical response to ERT. This will allow us to gain an understanding of CRIM status in relation to clinical outcomes and development for these subjects.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Response to Immune Tolerance Induction (ITI)</measure>
    <time_frame>Up to 18 years</time_frame>
    <description>Medical records will be tracked until the patient reaches the age of 18 years to follow clinical response to Immune Tolerance Induction (ITI) for patients who are CRIM- or CRIM+ with high antibody titers. This will allow us to increase our understanding of the history of Pompe disease in relation to treatment interventions and the role of high antibody titers in terms of patient outcome in order to develop strategies to ameliorate the immune response and other factors that may affect response to ERT.</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">300</enrollment>
  <condition>Pompe Disease</condition>
  <arm_group>
    <arm_group_label>Infantile Pompe disease</arm_group_label>
    <description>Individuals with a confirmed diagnosis of Infantile Pompe disease</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Observational</intervention_name>
    <description>This is a longitudinal study focused on the emerging natural history of Infantile Pompe disease, response to ERT using alglucosidase alfa (Myozyme) and response to Immune Tolerance Induction (ITI).</description>
    <arm_group_label>Infantile Pompe disease</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Study subjects will be babies/children with a confirmed diagnosis of infantile-onset Pompe&#xD;
        disease who are:&#xD;
&#xD;
          1. seen by the clinical staff of Duke Division of Medical Genetics, or&#xD;
&#xD;
          2. whose physician or parent contacts the Duke Division of Medical Genetics with the wish&#xD;
             to participate in this CRIM research study.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease&#xD;
&#xD;
          -  Must have a parent or guardian provide written informed consent&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Age 18 or older&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>18 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Priya S Kishnani, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Duke University</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Ankit K Desai, MBBS</last_name>
    <phone>919-613-6310</phone>
    <email>ankit.desai@duke.edu</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Eleanor Rodriguez-Rassi, MPH</last_name>
    <phone>919-613-1219</phone>
    <email>eleanor.rodriguezrassi@duke.edu</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Duke University Medical Center</name>
      <address>
        <city>Durham</city>
        <state>North Carolina</state>
        <zip>27710</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Ankit K Desai, MBBS</last_name>
      <phone>919-613-6310</phone>
      <email>ankit.desai@duke.edu</email>
    </contact>
    <contact_backup>
      <last_name>Eleanor Rodriguez-Rassi, MPH</last_name>
      <phone>919-613-1219</phone>
      <email>eleanor.rodriguezrassi@duke.edu</email>
    </contact_backup>
    <investigator>
      <last_name>Priya S Kishnani, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <results_reference>
    <citation>Banugaria SG, Prater SN, Ng YK, Kobori JA, Finkel RS, Ladda RL, Chen YT, Rosenberg AS, Kishnani PS. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011 Aug;13(8):729-36. doi: 10.1097/GIM.0b013e3182174703.</citation>
    <PMID>21637107</PMID>
  </results_reference>
  <results_reference>
    <citation>Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, Jones SA, Olson R, White A, Wells C, Bali D, Case LE, Young SP, Rosenberg AS, Kishnani PS. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med. 2012 Jan;14(1):135-42. doi: 10.1038/gim.2011.4.</citation>
    <PMID>22237443</PMID>
  </results_reference>
  <results_reference>
    <citation>Mendelsohn NJ, Messinger YH, Rosenberg AS, Kishnani PS. Elimination of antibodies to recombinant enzyme in Pompe's disease. N Engl J Med. 2009 Jan 8;360(2):194-5. doi: 10.1056/NEJMc0806809. No abstract available.</citation>
    <PMID>19129538</PMID>
  </results_reference>
  <results_reference>
    <citation>Berrier KL, Kazi ZB, Prater SN, Bali DS, Goldstein J, Stefanescu MC, Rehder CW, Botha EG, Ellaway C, Bhattacharya K, Tylki-Szymanska A, Karabul N, Rosenberg AS, Kishnani PS. CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy. Genet Med. 2015 Nov;17(11):912-8. doi: 10.1038/gim.2015.6. Epub 2015 Mar 5. Erratum In: Genet Med. 2015 Jul;17(7):596. Rosenburg, Amy S [corrected to Rosenberg, Amy S].</citation>
    <PMID>25741864</PMID>
  </results_reference>
  <results_reference>
    <citation>Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT. PLoS One. 2013 Jun 25;8(6):e67052. doi: 10.1371/journal.pone.0067052. Print 2013.</citation>
    <PMID>23825616</PMID>
  </results_reference>
  <results_reference>
    <citation>Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS. An immune tolerance approach using transient low-dose methotrexate in the ERT-naive setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. Genet Med. 2019 Apr;21(4):887-895. doi: 10.1038/s41436-018-0270-7. Epub 2018 Sep 14.</citation>
    <PMID>30214072</PMID>
  </results_reference>
  <results_reference>
    <citation>Desai AK, Walters CK, Cope HL, Kazi ZB, DeArmey SM, Kishnani PS. Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation. Mol Genet Metab. 2018 Feb;123(2):92-96. doi: 10.1016/j.ymgme.2017.12.435. Epub 2017 Dec 23.</citation>
    <PMID>29289479</PMID>
  </results_reference>
  <results_reference>
    <citation>McIntosh PT, Hobson-Webb LD, Kazi ZB, Prater SN, Banugaria SG, Austin S, Wang R, Enterline DS, Frush DP, Kishnani PS. Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. Mol Genet Metab. 2018 Feb;123(2):85-91. doi: 10.1016/j.ymgme.2017.10.005. Epub 2017 Oct 13.</citation>
    <PMID>29050825</PMID>
  </results_reference>
  <results_reference>
    <citation>Rairikar M, Kazi ZB, Desai A, Walters C, Rosenberg A, Kishnani PS. High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient. Mol Genet Metab. 2017 Sep;122(1-2):76-79. doi: 10.1016/j.ymgme.2017.05.006. Epub 2017 May 18.</citation>
    <PMID>28648664</PMID>
  </results_reference>
  <results_reference>
    <citation>Kazi ZB, Desai AK, Berrier KL, Troxler RB, Wang RY, Abdul-Rahman OA, Tanpaiboon P, Mendelsohn NJ, Herskovitz E, Kronn D, Inbar-Feigenberg M, Ward-Melver C, Polan M, Gupta P, Rosenberg AS, Kishnani PS. Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. JCI Insight. 2017 Aug 17;2(16):e94328. doi: 10.1172/jci.insight.94328. eCollection 2017 Aug 17.</citation>
    <PMID>28814660</PMID>
  </results_reference>
  <results_reference>
    <citation>Spiridigliozzi GA, Keeling LA, Stefanescu M, Li C, Austin S, Kishnani PS. Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up. Mol Genet Metab. 2017 Jun;121(2):127-137. doi: 10.1016/j.ymgme.2017.04.014. Epub 2017 May 1.</citation>
    <PMID>28495044</PMID>
  </results_reference>
  <results_reference>
    <citation>Kazi ZB, Prater SN, Kobori JA, Viskochil D, Bailey C, Gera R, Stockton DW, McIntosh P, Rosenberg AS, Kishnani PS. Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses. JCI Insight. 2016 Jul 21;1(11):e86821. doi: 10.1172/jci.insight.86821.</citation>
    <PMID>27493997</PMID>
  </results_reference>
  <results_reference>
    <citation>Bali DS, Goldstein JL, Rehder C, Kazi ZB, Berrier KL, Dai J, Kishnani PS. Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease. Mol Genet Metab Rep. 2015 Dec 1;5:76-79. doi: 10.1016/j.ymgmr.2015.10.012.</citation>
    <PMID>26693141</PMID>
  </results_reference>
  <results_reference>
    <citation>Curelaru S, Desai AK, Fink D, Zehavi Y, Kishnani PS, Spiegel R. A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation. Mol Genet Metab Rep. 2022 Jul 6;32:100893. doi: 10.1016/j.ymgmr.2022.100893. eCollection 2022 Sep.</citation>
    <PMID>35813979</PMID>
  </results_reference>
  <results_reference>
    <citation>Li C, Desai AK, Gupta P, Dempsey K, Bhambhani V, Hopkin RJ, Ficicioglu C, Tanpaiboon P, Craigen WJ, Rosenberg AS, Kishnani PS. Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genet Med. 2021 May;23(5):845-855. doi: 10.1038/s41436-020-01080-y. Epub 2021 Jan 25.</citation>
    <PMID>33495531</PMID>
  </results_reference>
  <results_reference>
    <citation>Desai AK, Baloh CH, Sleasman JW, Rosenberg AS, Kishnani PS. Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort. Front Immunol. 2020 Aug 6;11:1727. doi: 10.3389/fimmu.2020.01727. eCollection 2020.</citation>
    <PMID>32849613</PMID>
  </results_reference>
  <verification_date>October 2022</verification_date>
  <study_first_submitted>August 13, 2012</study_first_submitted>
  <study_first_submitted_qc>August 14, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">August 15, 2012</study_first_posted>
  <last_update_submitted>October 7, 2022</last_update_submitted>
  <last_update_submitted_qc>October 7, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">October 12, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Pompe disease</keyword>
  <keyword>Glycogen Storage Disease Type II</keyword>
  <keyword>Acid Maltase Deficiency</keyword>
  <keyword>CRIM Status</keyword>
  <keyword>Acid Alpha-Glucosidase Deficiency</keyword>
  <keyword>Alglucosidase alfa</keyword>
  <keyword>Myozyme</keyword>
  <keyword>Enzyme replacement therapy</keyword>
  <keyword>Immune Tolerance Induction</keyword>
  <keyword>Lumizyme</keyword>
  <keyword>Immunomodulation</keyword>
  <keyword>Anti-drug antibodies</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Glycogen Storage Disease Type II</mesh_term>
  </condition_browse>
  <!-- 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/NCT01665326
org study id: Pro00001562
nct id: NCT01665326
lead sponsor: 
collaborator: 
has dmc: Yes
This is a longitudinal natural history study of Infantile Pompe disease. The investigators
      will regularly collect and review medical information regarding the diagnosis of Pompe
      disease, response to enzyme replacement (ERT) using alglucosidase alfa (Lumizyme/Myozyme) and
      response to immunosuppressive therapy in cases at risk for developing or those who have
      developed high and sustained antibodies to ERT. To follow the long-term outcomes, we will
      collect medical records including but not limited to the diagnosis, clinical parameters,
      assessments for clinical monitoring, and laboratory values including antibody testing
      results.
Infantile-onset Pompe disease is an inherited disorder caused by lack of or defect in the
      enzyme acid alpha-glucosidase (GAA). GAA enzyme deficiency causes glycogen to build up and
      damage cells throughout the body, especially in the heart and muscles, which is normally
      diagnosed within the first months of life. Current treatment for Pompe disease involves
      enzyme replacement therapy (ERT) using the drug alglucosidase alfa (Lumizyme/Myozyme), which
      provides a form of the GAA enzyme to replace the enzyme that is missing or not working
      properly in the patient's blood.

      In this study, the investigators will learn about the patient's ability to tolerate ERT.
      Cross-Reactive Immunological Material (CRIM) is a measurement of natural GAA production and
      an important factor that affects how patients respond to ERT. Children who produce some
      natural GAA are classified as CRIM-positive, while children who do not produce any natural
      GAA are classified as CRIM-negative. Children who are CRIM-positive generally tolerate ERT
      well. But, children who are CRIM-negative, and some children classified as CRIM-positive,
      have a poor response to ERT due to complications from an immune response against the drug.
      Treatments are currently being developed to stop this immune response and prevent
      complications from ERT.

      This is a longitudinal natural history study of Infantile Pompe disease. The investigators
      will regularly collect and review medical information regarding the diagnosis of Pompe
      disease, response to enzyme replacement (ERT) using alglucosidase alfa (Lumizyme/Myozyme) and
      response to immunosuppressive therapy in cases at risk for developing or those who have
      developed high and sustained antibodies to ERT.

      The specific aims of this study are:

        1. To correlate CRIM status determined in a blood sample or cultured skin fibroblasts with
           GAA gene variants that are causing your child's Pompe disease.

        2. To explore the clinical treatment response and natural history of CRIM-positive and
           CRIM-negative Pompe disease patients with and without immune modulation.

        3. To investigate the role of immune response to treatment (IgG and IgE) including immune
           phenotyping.
observational model: Cohort
time perspective: Prospective
measure: Clinical response to enzyme replacement therapy (ERT) using alglucosidase alfa (Myozyme)
time frame: Up to 18 years
description: Medical records will be tracked until the patient reaches the age of 18 years to follow clinical response to ERT. This will allow us to gain an understanding of CRIM status in relation to clinical outcomes and development for these subjects.
measure: Response to Immune Tolerance Induction (ITI)
time frame: Up to 18 years
description: Medical records will be tracked until the patient reaches the age of 18 years to follow clinical response to Immune Tolerance Induction (ITI) for patients who are CRIM- or CRIM+ with high antibody titers. This will allow us to increase our understanding of the history of Pompe disease in relation to treatment interventions and the role of high antibody titers in terms of patient outcome in order to develop strategies to ameliorate the immune response and other factors that may affect response to ERT.
arm group label: Infantile Pompe disease
description: Individuals with a confirmed diagnosis of Infantile Pompe disease
intervention type: Other
intervention name: Observational
description: This is a longitudinal study focused on the emerging natural history of Infantile Pompe disease, response to ERT using alglucosidase alfa (Myozyme) and response to Immune Tolerance Induction (ITI).
arm group label: Infantile Pompe disease
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: 18 Years
healthy volunteers: No
last name: Priya S Kishnani, MD
role: Principal Investigator
affiliation: Duke University
last name: Ankit K Desai, MBBS
phone: 919-613-6310
email: ankit.desai@duke.edu
last name: Eleanor Rodriguez-Rassi, MPH
phone: 919-613-1219
email: eleanor.rodriguezrassi@duke.edu
facility: 
status: Recruiting
contact: 
contact backup: 
investigator: 
country: United States
citation: Banugaria SG, Prater SN, Ng YK, Kobori JA, Finkel RS, Ladda RL, Chen YT, Rosenberg AS, Kishnani PS. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011 Aug;13(8):729-36. doi: 10.1097/GIM.0b013e3182174703.
PMID: 21637107
citation: Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, Jones SA, Olson R, White A, Wells C, Bali D, Case LE, Young SP, Rosenberg AS, Kishnani PS. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med. 2012 Jan;14(1):135-42. doi: 10.1038/gim.2011.4.
PMID: 22237443
citation: Mendelsohn NJ, Messinger YH, Rosenberg AS, Kishnani PS. Elimination of antibodies to recombinant enzyme in Pompe's disease. N Engl J Med. 2009 Jan 8;360(2):194-5. doi: 10.1056/NEJMc0806809. No abstract available.
PMID: 19129538
citation: Berrier KL, Kazi ZB, Prater SN, Bali DS, Goldstein J, Stefanescu MC, Rehder CW, Botha EG, Ellaway C, Bhattacharya K, Tylki-Szymanska A, Karabul N, Rosenberg AS, Kishnani PS. CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy. Genet Med. 2015 Nov;17(11):912-8. doi: 10.1038/gim.2015.6. Epub 2015 Mar 5. Erratum In: Genet Med. 2015 Jul;17(7):596. Rosenburg, Amy S [corrected to Rosenberg, Amy S].
PMID: 25741864
citation: Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT. PLoS One. 2013 Jun 25;8(6):e67052. doi: 10.1371/journal.pone.0067052. Print 2013.
PMID: 23825616
citation: Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS. An immune tolerance approach using transient low-dose methotrexate in the ERT-naive setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. Genet Med. 2019 Apr;21(4):887-895. doi: 10.1038/s41436-018-0270-7. Epub 2018 Sep 14.
PMID: 30214072
citation: Desai AK, Walters CK, Cope HL, Kazi ZB, DeArmey SM, Kishnani PS. Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation. Mol Genet Metab. 2018 Feb;123(2):92-96. doi: 10.1016/j.ymgme.2017.12.435. Epub 2017 Dec 23.
PMID: 29289479
citation: McIntosh PT, Hobson-Webb LD, Kazi ZB, Prater SN, Banugaria SG, Austin S, Wang R, Enterline DS, Frush DP, Kishnani PS. Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. Mol Genet Metab. 2018 Feb;123(2):85-91. doi: 10.1016/j.ymgme.2017.10.005. Epub 2017 Oct 13.
PMID: 29050825
citation: Rairikar M, Kazi ZB, Desai A, Walters C, Rosenberg A, Kishnani PS. High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient. Mol Genet Metab. 2017 Sep;122(1-2):76-79. doi: 10.1016/j.ymgme.2017.05.006. Epub 2017 May 18.
PMID: 28648664
citation: Kazi ZB, Desai AK, Berrier KL, Troxler RB, Wang RY, Abdul-Rahman OA, Tanpaiboon P, Mendelsohn NJ, Herskovitz E, Kronn D, Inbar-Feigenberg M, Ward-Melver C, Polan M, Gupta P, Rosenberg AS, Kishnani PS. Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. JCI Insight. 2017 Aug 17;2(16):e94328. doi: 10.1172/jci.insight.94328. eCollection 2017 Aug 17.
PMID: 28814660
citation: Spiridigliozzi GA, Keeling LA, Stefanescu M, Li C, Austin S, Kishnani PS. Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up. Mol Genet Metab. 2017 Jun;121(2):127-137. doi: 10.1016/j.ymgme.2017.04.014. Epub 2017 May 1.
PMID: 28495044
citation: Kazi ZB, Prater SN, Kobori JA, Viskochil D, Bailey C, Gera R, Stockton DW, McIntosh P, Rosenberg AS, Kishnani PS. Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses. JCI Insight. 2016 Jul 21;1(11):e86821. doi: 10.1172/jci.insight.86821.
PMID: 27493997
citation: Bali DS, Goldstein JL, Rehder C, Kazi ZB, Berrier KL, Dai J, Kishnani PS. Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease. Mol Genet Metab Rep. 2015 Dec 1;5:76-79. doi: 10.1016/j.ymgmr.2015.10.012.
PMID: 26693141
citation: Curelaru S, Desai AK, Fink D, Zehavi Y, Kishnani PS, Spiegel R. A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation. Mol Genet Metab Rep. 2022 Jul 6;32:100893. doi: 10.1016/j.ymgmr.2022.100893. eCollection 2022 Sep.
PMID: 35813979
citation: Li C, Desai AK, Gupta P, Dempsey K, Bhambhani V, Hopkin RJ, Ficicioglu C, Tanpaiboon P, Craigen WJ, Rosenberg AS, Kishnani PS. Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genet Med. 2021 May;23(5):845-855. doi: 10.1038/s41436-020-01080-y. Epub 2021 Jan 25.
PMID: 33495531
citation: Desai AK, Baloh CH, Sleasman JW, Rosenberg AS, Kishnani PS. Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort. Front Immunol. 2020 Aug 6;11:1727. doi: 10.3389/fimmu.2020.01727. eCollection 2020.
PMID: 32849613
responsible party type: Sponsor
mesh term: Glycogen Storage Disease Type II