<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/NCT03770572</url>
  </required_header>
  <id_info>
    <org_study_id>AT-GTX-502-01</org_study_id>
    <nct_id>NCT03770572</nct_id>
  </id_info>
  <brief_title>Gene Therapy for Children With CLN3 Batten Disease</brief_title>
  <official_title>Phase I/IIa Gene Transfer Clinical Trial for Juvenile Neuronal Ceroid Lipofuscinosis, Delivering the CLN3 Gene by Self-Complementary AAV9</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Amicus Therapeutics</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Amicus Therapeutics</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
    <is_fda_regulated_drug>Yes</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      This is a phase 1/2, open-label, single dose, dose-escalation clinical trial to evaluate the&#xD;
      safety and efficacy of AT-GTX-502 (previous NCH Code: scAAV9.P546.CLN3) delivered&#xD;
      intrathecally into the lumbar spinal cord region of subjects with CLN3 Batten disease.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This is a phase 1/2, open-label, single-dose, dose-escalation study of AT-GTX-502&#xD;
      administered intrathecally into the lumbar spinal cord region of pediatric patients with CLN3&#xD;
      Batten disease.&#xD;
&#xD;
      This study consists of a one-time injection of AT-GTX-502 with follow-up visits on Day 7, 14,&#xD;
      21, and 30, followed by every 3 months through 1 year post-dose, and then every 6 months&#xD;
      through the fifth year. There are two Cohorts with a low dose and a high dose.&#xD;
&#xD;
      The primary outcome for this clinical study is to evaluate safety. The co-primary objective&#xD;
      is to determine the efficacy of AT-GTX-502 as measured by United Batten Disease Rating Scale&#xD;
      (UBDRS) physical subscale.&#xD;
&#xD;
      The secondary outcome measures include Pediatric Quality of Life (PedsQL) inventory, seizure&#xD;
      subscale of the UBDRS and global impression subscale of the UBDRS.&#xD;
&#xD;
      The exploratory outcome measures include visual impairment assessment, cognitive evaluations,&#xD;
      Brain magnetic resonance imaging (MRI), electroencephalogram (EEG), electrocardiogram (ECG)&#xD;
      and echocardiogram (ECHO).&#xD;
&#xD;
      For more information about this study, please contact Amicus Therapeutics Patient Advocacy at&#xD;
      clinicaltrials@amicusrx.com or +1 609-662-2000.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Active, not recruiting</overall_status>
  <start_date type="Actual">November 13, 2018</start_date>
  <completion_date type="Anticipated">September 30, 2024</completion_date>
  <primary_completion_date type="Anticipated">September 30, 2024</primary_completion_date>
  <phase>Phase 1/Phase 2</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>Non-Randomized</allocation>
    <intervention_model>Single Group Assignment</intervention_model>
    <intervention_model_description>Single Treatment Group (AAV9-CLN3) - 2 Cohort Assignment (Low-dose, High-dose)&#xD;
Dose escalation in this study will begin with low-dose, determined to be the minimal efficacious dose as determined in non-clinical studies. Dose escalation to a high-dose (2x the minimally effective dose (MED) as evaluated in Cohort 1) will proceed as part of Cohort 2 of the study upon demonstration of safety of the low-dose in Cohort 1 of the study.</intervention_model_description>
    <primary_purpose>Treatment</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Safety evaluation based on the development of dose-limiting toxicity (DLT).</measure>
    <time_frame>36 Months</time_frame>
    <description>The DLT is defined as any unanticipated AE that is considered related to AT-GTX-502 and is Common Terminology Criteria for Adverse Events Grade 3 or higher.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Efficacy: Change in rating as determined using the Unified Batten Disease Rating Scale (UBDRS) rating scale.</measure>
    <time_frame>36 months</time_frame>
    <description>The UBDRS is a clinical ratings instrument used specifically to assess motor, seizure, behavioral and functional capabilities. The &quot;Physical Assessment&quot; is a 20 item subscale that measures vision, speech, motor strength, gait, abnormal involuntary movements and balance. Each item has a score range of 0 to 4. The minimum score is 0 and the maximum score is 112. The items are summed up to obtain a total score.The higher the score, the more severe the disability and worse the outcome.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>QOL: Change in Quality of Life (QOL) as determined using the Pediatric Quality of Life (PedsQL™) scale.</measure>
    <time_frame>36 months</time_frame>
    <description>The PedsQL is used to assess physical, emotional, social, and school functioning of pediatric subjects in ranging from 2 years to 18 years of age.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Seizures: Change is seizure subscore as determined using Seizure subscale of the UBDRS scale.</measure>
    <time_frame>36 months</time_frame>
    <description>The UBDRS seizure subscale is used to assess seizure history, type, frequency, duration, and frequency of seizure-related injury.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Global impression: Change in disease severity using the UBDRS clinical global impression (CGI) subscale.</measure>
    <time_frame>36 months</time_frame>
    <description>The clinical global impression subscale includes assessment of motor, seizure, behavioral and cognitive function in NCL subjects.</description>
  </secondary_outcome>
  <number_of_arms>2</number_of_arms>
  <enrollment type="Anticipated">7</enrollment>
  <condition>CLN3</condition>
  <condition>Batten Disease</condition>
  <arm_group>
    <arm_group_label>Cohort 1: AT-GTX-502 Low-Dose</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <description>No more than 5 mL of 6 x 1013 vg AT-GTX-502 administered via intrathecal injection</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Cohort 2: AT-GTX-502 High-Dose</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <description>No more than 10 mL of 1.2 x 1014 vg of AT-GTX-502 administered via intrathecal injection</description>
  </arm_group>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Low dose AT-GTX-502</intervention_name>
    <description>Subjects with diagnosis of CLN3 Batten disease will receive a single dose of AT-GTX-502 at low dose</description>
    <arm_group_label>Cohort 1: AT-GTX-502 Low-Dose</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>High dose AT-GTX-502</intervention_name>
    <description>Subjects with diagnosis of CLN3 Batten disease will receive a single dose of AT-GTX-502 at high dose</description>
    <arm_group_label>Cohort 2: AT-GTX-502 High-Dose</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria&#xD;
&#xD;
          1. Diagnosis of CLN3 Batten disease determined by genotype available at screening by a&#xD;
             College of American Pathologists/Clinical Laboratory Improvement Amendments&#xD;
             (CAP/CLIA)-certified laboratory (or a non-US laboratory with an equivalent national&#xD;
             accreditation/certification)&#xD;
&#xD;
          2. Aged ≥ 3 to &lt; 11 years&#xD;
&#xD;
          3. UBDRS physical impairment score of ≤ 7&#xD;
&#xD;
          4. Able to walk independently at least 50 feet&#xD;
&#xD;
        Exclusion Criteria&#xD;
&#xD;
          1. Presence of another inherited neurologic or metabolic disease, eg, other forms of&#xD;
             Batten disease (also known as neuronal ceroid lipofuscinosis; NCL) or seizures&#xD;
             unrelated to CLN3 Batten disease (subjects with febrile seizures may be eligible at&#xD;
             the discretion of the investigator)&#xD;
&#xD;
          2. Presence of another neurological illness that may have caused cognitive decline (eg,&#xD;
             trauma, meningitis, hemorrhage) before screening&#xD;
&#xD;
          3. Active viral infection (includes HIV or serology positive for hepatitis B or C)&#xD;
&#xD;
          4. Subjects with 2 consecutive aminotransaminase liver tests &gt; 3 times the upper limit of&#xD;
             normal or &gt; 1.5 times the upper limit of normal if taking valproic acid at Visit 1&#xD;
             (screening/baseline)&#xD;
&#xD;
          5. Subjects with anti-AAV9 antibody titers &gt; 1:400 as determined by ELISA (enzyme-linked&#xD;
             immunosorbent assay) binding immunoassay&#xD;
&#xD;
          6. Abnormal laboratory values considered clinically significant&#xD;
&#xD;
          7. Presence of immunologic disease&#xD;
&#xD;
          8. Has received stem cell or bone marrow transplantation&#xD;
&#xD;
          9. Has received any form of organ transplant&#xD;
&#xD;
         10. History of or current chemotherapy, radiotherapy, or other immunosuppression therapy&#xD;
             within the past 30 days (corticosteroid treatment may be permitted at the discretion&#xD;
             of the investigator)&#xD;
&#xD;
         11. Current use of cannabinoids and any by-products&#xD;
&#xD;
         12. Contraindications for intrathecal administration of the product or lumbar puncture&#xD;
             (for collection of CSF), such as bleeding disorders or other medical conditions (eg,&#xD;
             spina bifida, meningitis, or clotting abnormalities)&#xD;
&#xD;
         13. Contraindications for MRI scans (eg, cardiac pacemaker, metal fragment or chip in the&#xD;
             eye, aneurysm clip in the brain)&#xD;
&#xD;
         14. Poorly controlled seizures - intractable epilepsy&#xD;
&#xD;
         15. Episode of generalized motor status epilepticus within 4 weeks before the Gene&#xD;
             Transfer visit&#xD;
&#xD;
         16. History of corneal or intraocular surgery&#xD;
&#xD;
         17. Severe infection (eg, upper respiratory tract infection, pneumonia, pyelonephritis, or&#xD;
             meningitis) within 4 weeks before the Gene Transfer visit (Enrollment may be&#xD;
             postponed.)&#xD;
&#xD;
         18. Has received any investigational medication within 30 days before the infusion of&#xD;
             study drug&#xD;
&#xD;
         19. Has a medical condition or extenuating circumstance that, in the opinion of the&#xD;
             investigator, might compromise the subject's ability to comply with the protocol&#xD;
             required testing or procedures or compromise the subject's wellbeing, safety, or&#xD;
             clinical interpretability&#xD;
&#xD;
         20. Pregnancy at screening or Day 0. Any female subject judged by the investigator to be&#xD;
             of childbearing potential will be tested for pregnancy.&#xD;
&#xD;
         21. Family does not want to disclose subject's study participation with primary care&#xD;
             physician and other medical providers&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>3 Years</minimum_age>
    <maximum_age>10 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Clinical Research</last_name>
    <role>Study Director</role>
    <affiliation>Amicus Therapeutics</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Nationwide Children's Hospital</name>
      <address>
        <city>Columbus</city>
        <state>Ohio</state>
        <zip>43201</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <reference>
    <citation>Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.</citation>
    <PMID>23602993</PMID>
  </reference>
  <reference>
    <citation>Phillips SN, Benedict JW, Weimer JM, Pearce DA. CLN3, the protein associated with batten disease: structure, function and localization. J Neurosci Res. 2005 Mar 1;79(5):573-83. doi: 10.1002/jnr.20367.</citation>
    <PMID>15657902</PMID>
  </reference>
  <reference>
    <citation>Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE. Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet. 1997 Aug;61(2):310-6. doi: 10.1086/514846.</citation>
    <PMID>9311735</PMID>
  </reference>
  <reference>
    <citation>Drack AV, Mullins RF, Pfeifer WL, Augustine EF, Stasheff SF, Hong SD. Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). Ophthalmic Genet. 2015;36(4):359-64. doi: 10.3109/13816810.2014.886271. Epub 2014 Feb 19.</citation>
    <PMID>24547931</PMID>
  </reference>
  <reference>
    <citation>Kwon JM, Adams H, Rothberg PG, Augustine EF, Marshall FJ, Deblieck EA, Vierhile A, Beck CA, Newhouse NJ, Cialone J, Levy E, Ramirez-Montealegre D, Dure LS, Rose KR, Mink JW. Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology. 2011 Nov 15;77(20):1801-7. doi: 10.1212/WNL.0b013e318237f649. Epub 2011 Oct 19.</citation>
    <PMID>22013180</PMID>
  </reference>
  <reference>
    <citation>Adams HR, Mink JW; University of Rochester Batten Center Study Group. Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease). J Child Neurol. 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813.</citation>
    <PMID>24014508</PMID>
  </reference>
  <reference>
    <citation>Ostergaard JR, Rasmussen TB, Molgaard H. Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology. 2011 Apr 5;76(14):1245-51. doi: 10.1212/WNL.0b013e31821435bd.</citation>
    <PMID>21464428</PMID>
  </reference>
  <reference>
    <citation>Cotman SL, Vrbanac V, Lebel LA, Lee RL, Johnson KA, Donahue LR, Teed AM, Antonellis K, Bronson RT, Lerner TJ, MacDonald ME. Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet. 2002 Oct 15;11(22):2709-21. doi: 10.1093/hmg/11.22.2709.</citation>
    <PMID>12374761</PMID>
  </reference>
  <verification_date>August 2023</verification_date>
  <study_first_submitted>December 7, 2018</study_first_submitted>
  <study_first_submitted_qc>December 7, 2018</study_first_submitted_qc>
  <study_first_posted type="Actual">December 10, 2018</study_first_posted>
  <last_update_submitted>August 25, 2023</last_update_submitted>
  <last_update_submitted_qc>August 25, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">August 29, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>CLN3</keyword>
  <keyword>Neuronal ceroid lipofuscinosis</keyword>
  <keyword>NCL</keyword>
  <keyword>Gene Transfer</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Neuronal Ceroid-Lipofuscinoses</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</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/NCT03770572
org study id: AT-GTX-502-01
nct id: NCT03770572
lead sponsor: 
has dmc: Yes
is fda regulated drug: Yes
is fda regulated device: No
This is a phase 1/2, open-label, single dose, dose-escalation clinical trial to evaluate the
      safety and efficacy of AT-GTX-502 (previous NCH Code: scAAV9.P546.CLN3) delivered
      intrathecally into the lumbar spinal cord region of subjects with CLN3 Batten disease.
This is a phase 1/2, open-label, single-dose, dose-escalation study of AT-GTX-502
      administered intrathecally into the lumbar spinal cord region of pediatric patients with CLN3
      Batten disease.

      This study consists of a one-time injection of AT-GTX-502 with follow-up visits on Day 7, 14,
      21, and 30, followed by every 3 months through 1 year post-dose, and then every 6 months
      through the fifth year. There are two Cohorts with a low dose and a high dose.

      The primary outcome for this clinical study is to evaluate safety. The co-primary objective
      is to determine the efficacy of AT-GTX-502 as measured by United Batten Disease Rating Scale
      (UBDRS) physical subscale.

      The secondary outcome measures include Pediatric Quality of Life (PedsQL) inventory, seizure
      subscale of the UBDRS and global impression subscale of the UBDRS.

      The exploratory outcome measures include visual impairment assessment, cognitive evaluations,
      Brain magnetic resonance imaging (MRI), electroencephalogram (EEG), electrocardiogram (ECG)
      and echocardiogram (ECHO).

      For more information about this study, please contact Amicus Therapeutics Patient Advocacy at
      clinicaltrials@amicusrx.com or +1 609-662-2000.
allocation: Non-Randomized
intervention model: Single Group Assignment
intervention model description: Single Treatment Group (AAV9-CLN3) - 2 Cohort Assignment (Low-dose, High-dose)
Dose escalation in this study will begin with low-dose, determined to be the minimal efficacious dose as determined in non-clinical studies. Dose escalation to a high-dose (2x the minimally effective dose (MED) as evaluated in Cohort 1) will proceed as part of Cohort 2 of the study upon demonstration of safety of the low-dose in Cohort 1 of the study.
primary purpose: Treatment
masking: None (Open Label)
measure: Safety evaluation based on the development of dose-limiting toxicity (DLT).
time frame: 36 Months
description: The DLT is defined as any unanticipated AE that is considered related to AT-GTX-502 and is Common Terminology Criteria for Adverse Events Grade 3 or higher.
measure: Efficacy: Change in rating as determined using the Unified Batten Disease Rating Scale (UBDRS) rating scale.
time frame: 36 months
description: The UBDRS is a clinical ratings instrument used specifically to assess motor, seizure, behavioral and functional capabilities. The "Physical Assessment" is a 20 item subscale that measures vision, speech, motor strength, gait, abnormal involuntary movements and balance. Each item has a score range of 0 to 4. The minimum score is 0 and the maximum score is 112. The items are summed up to obtain a total score.The higher the score, the more severe the disability and worse the outcome.
measure: QOL: Change in Quality of Life (QOL) as determined using the Pediatric Quality of Life (PedsQL™) scale.
time frame: 36 months
description: The PedsQL is used to assess physical, emotional, social, and school functioning of pediatric subjects in ranging from 2 years to 18 years of age.
measure: Seizures: Change is seizure subscore as determined using Seizure subscale of the UBDRS scale.
time frame: 36 months
description: The UBDRS seizure subscale is used to assess seizure history, type, frequency, duration, and frequency of seizure-related injury.
measure: Global impression: Change in disease severity using the UBDRS clinical global impression (CGI) subscale.
time frame: 36 months
description: The clinical global impression subscale includes assessment of motor, seizure, behavioral and cognitive function in NCL subjects.
arm group label: Cohort 1: AT-GTX-502 Low-Dose
arm group type: Experimental
description: No more than 5 mL of 6 x 1013 vg AT-GTX-502 administered via intrathecal injection
arm group label: Cohort 2: AT-GTX-502 High-Dose
arm group type: Experimental
description: No more than 10 mL of 1.2 x 1014 vg of AT-GTX-502 administered via intrathecal injection
intervention type: Genetic
intervention name: Low dose AT-GTX-502
description: Subjects with diagnosis of CLN3 Batten disease will receive a single dose of AT-GTX-502 at low dose
arm group label: Cohort 1: AT-GTX-502 Low-Dose
intervention type: Genetic
intervention name: High dose AT-GTX-502
description: Subjects with diagnosis of CLN3 Batten disease will receive a single dose of AT-GTX-502 at high dose
arm group label: Cohort 2: AT-GTX-502 High-Dose
criteria: 
gender: All
minimum age: 3 Years
maximum age: 10 Years
healthy volunteers: No
last name: Clinical Research
role: Study Director
affiliation: Amicus Therapeutics
facility: 
country: United States
citation: Schulz A, Kohlschutter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.
PMID: 23602993
citation: Phillips SN, Benedict JW, Weimer JM, Pearce DA. CLN3, the protein associated with batten disease: structure, function and localization. J Neurosci Res. 2005 Mar 1;79(5):573-83. doi: 10.1002/jnr.20367.
PMID: 15657902
citation: Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE. Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet. 1997 Aug;61(2):310-6. doi: 10.1086/514846.
PMID: 9311735
citation: Drack AV, Mullins RF, Pfeifer WL, Augustine EF, Stasheff SF, Hong SD. Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). Ophthalmic Genet. 2015;36(4):359-64. doi: 10.3109/13816810.2014.886271. Epub 2014 Feb 19.
PMID: 24547931
citation: Kwon JM, Adams H, Rothberg PG, Augustine EF, Marshall FJ, Deblieck EA, Vierhile A, Beck CA, Newhouse NJ, Cialone J, Levy E, Ramirez-Montealegre D, Dure LS, Rose KR, Mink JW. Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology. 2011 Nov 15;77(20):1801-7. doi: 10.1212/WNL.0b013e318237f649. Epub 2011 Oct 19.
PMID: 22013180
citation: Adams HR, Mink JW; University of Rochester Batten Center Study Group. Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease). J Child Neurol. 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813.
PMID: 24014508
citation: Ostergaard JR, Rasmussen TB, Molgaard H. Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology. 2011 Apr 5;76(14):1245-51. doi: 10.1212/WNL.0b013e31821435bd.
PMID: 21464428
citation: Cotman SL, Vrbanac V, Lebel LA, Lee RL, Johnson KA, Donahue LR, Teed AM, Antonellis K, Bronson RT, Lerner TJ, MacDonald ME. Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet. 2002 Oct 15;11(22):2709-21. doi: 10.1093/hmg/11.22.2709.
PMID: 12374761
responsible party type: Sponsor
mesh term: Neuronal Ceroid-Lipofuscinoses
sharing ipd: No