<?xml version="1.0" encoding="utf-8"?>
<!DOCTYPE trials [
<!ELEMENT trials (trial+)>

<!ELEMENT trial (main,contacts,countries,criteria,health_condition_code,health_condition_keyword,intervention_code,
          intervention_keyword,primary_outcome,secondary_outcome,secondary_sponsor,secondary_ids,source_support,ethics_reviews)>

<!ELEMENT main (trial_id,utrn?,reg_name,date_registration,primary_sponsor,public_title,acronym?,scientific_title,scientific_acronym?,
          date_enrolment,type_enrolment,target_size,recruitment_status,url?,study_type,study_design,phase,hc_freetext?,i_freetext?,results_actual_enrolment,results_date_completed,results_url_link,results_summary,           results_date_posted,results_date_first_publication,results_baseline_char,results_participant_flow,results_adverse_events,results_outcome_measures,results_url_protocol,results_IPD_plan, results_IPD_description)>
<!ELEMENT trial_id (#PCDATA)>
<!ELEMENT utrn (#PCDATA)>
<!ELEMENT reg_name (#PCDATA)>
<!ELEMENT date_registration (#PCDATA)><!-- dd/mm/yyyy -->
<!ELEMENT primary_sponsor (#PCDATA)>
<!ELEMENT public_title (#PCDATA)>
<!ELEMENT acronym (#PCDATA)>
<!ELEMENT scientific_title (#PCDATA)>
<!ELEMENT scientific_acronym (#PCDATA)>
<!ELEMENT date_enrolment (#PCDATA)><!-- dd/mm/yyyy -->
<!ELEMENT type_enrolment (#PCDATA)>
<!ELEMENT target_size (#PCDATA)>
<!ELEMENT recruitment_status (#PCDATA)><!-- Pending,Recruiting,Suspended,Complete,Other -->
<!ELEMENT url (#PCDATA)>
<!ELEMENT study_type (#PCDATA)><!-- interventional,observational -->
<!ELEMENT study_design (#PCDATA)>
<!ELEMENT phase (#PCDATA)>
<!ELEMENT hc_freetext (#PCDATA)>
<!ELEMENT i_freetext (#PCDATA)>
<!ELEMENT results_actual_enrolment (#PCDATA)>
<!ELEMENT results_date_completed (#PCDATA)><!-- dd/mm/yyyy -->
<!ELEMENT results_url_link (#PCDATA)>
<!ELEMENT results_summary (#PCDATA)>
<!ELEMENT results_date_posted (#PCDATA)><!-- dd/mm/yyyy -->
<!ELEMENT results_date_first_publication (#PCDATA)><!-- dd/mm/yyyy -->
<!ELEMENT results_baseline_char (#PCDATA)>
<!ELEMENT results_participant_flow (#PCDATA)>
<!ELEMENT results_adverse_events (#PCDATA)>
<!ELEMENT results_outcome_measures (#PCDATA)>
<!ELEMENT results_url_protocol (#PCDATA)>
<!ELEMENT results_IPD_plan (#PCDATA)>
<!ELEMENT results_IPD_description (#PCDATA)>


<!ELEMENT contacts (contact+)>
<!ELEMENT contact (type,firstname,middlename,lastname,address,city,country1,zip,telephone,email,affiliation)>
<!ELEMENT type (#PCDATA)><!-- Public,Scientific -->
<!ELEMENT firstname (#PCDATA)>
<!ELEMENT middlename (#PCDATA)>
<!ELEMENT lastname (#PCDATA)>
<!ELEMENT address (#PCDATA)>
<!ELEMENT city (#PCDATA)>
<!ELEMENT country1 (#PCDATA)>
<!ELEMENT zip (#PCDATA)>
<!ELEMENT telephone (#PCDATA)>
<!ELEMENT email (#PCDATA)>
<!ELEMENT affiliation (#PCDATA)>

<!ELEMENT countries (country2+)>
<!ELEMENT country2 (#PCDATA)>

<!ELEMENT criteria (inclusion_criteria,agemin,agemax,gender,exclusion_criteria)>
<!ELEMENT inclusion_criteria (#PCDATA)>
<!ELEMENT agemin (#PCDATA)>
<!ELEMENT agemax (#PCDATA)>
<!ELEMENT gender (#PCDATA)>
<!ELEMENT exclusion_criteria (#PCDATA)>

<!ELEMENT health_condition_code (hc_code+)>
<!ELEMENT hc_code (#PCDATA)>

<!ELEMENT health_condition_keyword (hc_keyword+)>
<!ELEMENT hc_keyword (#PCDATA)>

<!ELEMENT intervention_code (i_code+)>
<!ELEMENT i_code (#PCDATA)>

<!ELEMENT intervention_keyword (i_keyword+)>
<!ELEMENT i_keyword (#PCDATA)>

<!ELEMENT primary_outcome (prim_outcome+)>
<!ELEMENT prim_outcome (#PCDATA)>

<!ELEMENT secondary_outcome (sec_outcome+)>
<!ELEMENT sec_outcome (#PCDATA)>

<!ELEMENT secondary_sponsor (sponsor_name+)>
<!ELEMENT sponsor_name (#PCDATA)>

<!ELEMENT secondary_ids (secondary_id+)>
<!ELEMENT secondary_id (sec_id,issuing_authority)>
<!ELEMENT sec_id (#PCDATA)>
<!ELEMENT issuing_authority (#PCDATA)>

<!ELEMENT source_support (source_name+)>
<!ELEMENT source_name (#PCDATA)>

<!ELEMENT ethics_reviews (ethics_review+)>
<!ELEMENT ethics_review (status,approval_date,contact_name,contact_address,contact_phone,contact_email)>
<!ELEMENT status (#PCDATA)><!-- Not approved,Approved,NA -->
<!ELEMENT approval_date (#PCDATA)><!-- dd/mm/yyyy -->
<!ELEMENT contact_name (#PCDATA)>
<!ELEMENT contact_address (#PCDATA)>
<!ELEMENT contact_phone (#PCDATA)>
<!ELEMENT contact_email (#PCDATA)>
]>
<trials>
  <trial>
    <main>
      <trial_id>IRCT20210413050958N5</trial_id>
      <utrn></utrn>
      <reg_name>IRCT</reg_name>
      <date_registration>2022-06-08</date_registration>
      <primary_sponsor>Mashhad University of Medical Sciences</primary_sponsor>
      <public_title>Effect of N-Acetyl-L-Leucine in treatment of Multiple Sulfatase Deficiency</public_title>
      <acronym></acronym>
      <scientific_title>The effects of N-Acetyl-L-Leucine on the improvement of symptoms in A patient with Multiple Sulfatase Deficiency</scientific_title>
      <scientific_acronym></scientific_acronym>
      <date_enrolment>2022-05-31</date_enrolment>
      <type_enrolment>anticipated</type_enrolment>
      <target_size>1</target_size>
      <recruitment_status>Complete</recruitment_status>
      <url>https://irct.ir/trial/63762</url>
      <study_type>interventional</study_type>
      <study_design>Randomization: Randomized, Blinding: Double blinded, Placebo: Used, Assignment: Crossover, Purpose: Treatment, Randomization description: The drug allocation sequence is made in a simple random method. Sequentially numbered sealed envelopes are used to implement the random allocation sequence which opened by a person not involved in the project, Blinding description: The volunteer, care provider and statistician are blinded after assignment to intervention. So that, the supplements containers were coded as A and B by a non-researcher person and remained confidential until data analysis. The placebos are similar to the supplements regarding the weight and color.</study_design>
      <phase>2</phase>
      <hc_freetext>Multiple sulfatase deficiency.</hc_freetext>
      <i_freetext>Intervention 1: Subject in the intervention group receives N-Acetyl-L-Leucine caplets (daily intake of 2-4 gr depending on the subject’ weight) for 4 weeks (n=1) and then after a 4-weeks wash-out period, he/she is crossed over to the placebo. The participant takes the supplement every day, which is contained in an unlabeled bottle. Supplements are from Hubei ipure Biotech co., ltd (Shenzhen, China). Intervention 2: The subject receives a placebo caplet (daily consumption between 2 to 4 grams depending on the subject's weight) for 4 weeks (n=1) and then after a 4-weeks wash-out period, he/she is crossed over to the alternate regimen (N-Acetyl-L- Leucine). Participant takes a placebo every day orally in an unlabeled bottle. The placebo is prepared by from faculty of pharmacy (Mashhad, Iran) company.</i_freetext>
      <results_actual_enrolment></results_actual_enrolment>
      <results_date_completed></results_date_completed>
      <results_url_link></results_url_link>
      <results_summary></results_summary>
      <results_date_posted></results_date_posted>
      <results_date_first_publication></results_date_first_publication>
      <results_baseline_char></results_baseline_char>
      <results_participant_flow></results_participant_flow>
      <results_adverse_events></results_adverse_events>
      <results_outcome_measures></results_outcome_measures>
      <results_url_protocol></results_url_protocol>
      <results_IPD_plan>No - There is not a plan to make this available</results_IPD_plan>
      <results_IPD_description>Justification or reason for not sharing IPD is Following a reasonable request, deidentified data will be shared.</results_IPD_description>
    </main>
    <contacts>
      <contact>
        <type>public</type>
        <firstname>Maryam Saberi-Karimian</firstname>
        <middlename></middlename>
        <lastname></lastname>
        <address>Ghaem Hospital, Ahmadabad Ave.</address>
        <city>Mashhad</city>
        <country1>Iran (Islamic Republic of)</country1>
        <zip>99199-91766</zip>
        <telephone>+98 51 3840 0001</telephone>
        <email>maryamsabery2012@gmail.com</email>
        <affiliation>Mashhad University of Medical Sciences</affiliation>
      </contact>
      <contact>
        <type>scientific</type>
        <firstname>Maryam Saberi-Karimian</firstname>
        <middlename></middlename>
        <lastname></lastname>
        <address>Ghaem Hospital, Ahmadabad Ave.</address>
        <city>Mashhad</city>
        <country1>Iran (Islamic Republic of)</country1>
        <zip>99199-91766</zip>
        <telephone>+98 51 3840 0001</telephone>
        <email>maryamsabery2012@gmail.com</email>
        <affiliation>Mashhad University of Medical Sciences</affiliation>
      </contact>
    </contacts>
    <countries>
      <country2>Iran (Islamic Republic of)</country2>
    </countries>
    <criteria>
      <inclusion_criteria>Age over 6 years
Patient with a definitive diagnosis of Multiple Sulfatase Deficiency
Having clinical signs
If the patient is taking any medication, he/she should maintain a constant dose/not change his/her treatment during the study period.</inclusion_criteria>
      <agemin>6 years</agemin>
      <agemax>no limit</agemax>
      <gender>Both</gender>
      <exclusion_criteria>Have not taken any forbidden drugs (including any variant of N-acetyl-DL-leucine, aminopyridines, Riluzole, gabapentin, Varenicline, Chlorzoxazone, sulfasalazine, Rosuvastatin at least 4 weeks before visit 1 and throughout the duration of the study
Patient who has any of the following: Chronic diarrhea, Unexplained visual loss, Malignancies, Insulin-dependent diabetes mellitus, Known history of hypersensitivity to the N-Acetyl-Leucine (DL-, L-, D-) or derivatives, History of known hypersensitivity to excipients of Ora-Blend® (namely sucrose, sorbitol, cellulose, carboxymethylcellulose, xanthan gum, carrageenan, dimethicone, methylparaben, and potassium sorbate)
Having severe vision or hearing impairment that interferes with their ability to complete study assessments
Having a definite diagnosis of arthritis or other musculoskeletal disorders that affects patient's mobility and interferes with their ability to complete study assessments</exclusion_criteria>
    </criteria>
    <health_condition_code>
      <hc_code>E75</hc_code>
    </health_condition_code>
    <health_condition_keyword>
      <hc_keyword>Disorders of sphingolipid metabolism and other lipid storage disorders</hc_keyword>
    </health_condition_keyword>
    <intervention_code>
      <i_code>Treatment - Drugs</i_code>
      <i_code>Placebo</i_code>
    </intervention_code>
    <intervention_keyword>
      <i_keyword>Subject in the intervention group receives N-Acetyl-L-Leucine caplets (daily intake of 2-4 gr depending on the subject’ weight) for 4 weeks (n=1) and then after a 4-weeks wash-out period, he/she is crossed over to the placebo. The participant takes the supplement every day, which is contained in an unlabeled bottle. Supplements are from Hubei ipure Biotech co., ltd (Shenzhen, China).</i_keyword>
      <i_keyword>The subject receives a placebo caplet (daily consumption between 2 to 4 grams depending on the subject's weight) for 4 weeks (n=1) and then after a 4-weeks wash-out period, he/she is crossed over to the alternate regimen (N-Acetyl-L- Leucine). Participant takes a placebo every day orally in an unlabeled bottle. The placebo is prepared by from faculty of pharmacy (Mashhad, Iran) company.</i_keyword>
    </intervention_keyword>
    <primary_outcome>
      <prim_outcome>Movement signs. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Using the Scale for Assessment and Rating of Ataxia (SARA) score and Spinocerebellar Ataxia Functional Index (SCAFI).</prim_outcome>
    </primary_outcome>
    <secondary_outcome>
      <sec_outcome>The quality of life. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Using PedsQL questionnaire.</sec_outcome>
      <sec_outcome>Cell blood count. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Sysmex Cell Counter.</sec_outcome>
      <sec_outcome>Lactate dehydrogenase. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.</sec_outcome>
      <sec_outcome>Aspartate aminotransferase. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.</sec_outcome>
      <sec_outcome>Alanine aminotransferase. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.</sec_outcome>
      <sec_outcome>Urea. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.</sec_outcome>
      <sec_outcome>Creatinine. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.</sec_outcome>
      <sec_outcome>Alkaline phosphatase. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.</sec_outcome>
      <sec_outcome>Na. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.</sec_outcome>
      <sec_outcome>K. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.</sec_outcome>
      <sec_outcome>Total bilirubin. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.</sec_outcome>
      <sec_outcome>Direct bilirubin. Timepoint: Before the intervention and 4 weeks after taking supplement or placebo in every study stage. Method of measurement: Auto analyzer instrument.</sec_outcome>
    </secondary_outcome>
    <secondary_sponsor>
      <sponsor_name></sponsor_name>
    </secondary_sponsor>
    <secondary_ids>
      <secondary_id>
        <sec_id></sec_id>
        <issuing_authority></issuing_authority>
      </secondary_id>
    </secondary_ids>
    <source_support>
      <source_name>Mashhad University of Medical Sciences</source_name>
    </source_support>
    <ethics_reviews>
      <ethics_review>
        <status>Approved</status>
        <approval_date>2022-05-17</approval_date>
        <contact_name>Ethics committee of Mashhad University of Medical Sciences</contact_name>
        <contact_address>Daneshgah Ave., Ghoreishi buildings Mashhad Razavi Khorasan Iran (Islamic Republic of)</contact_address>
        <contact_phone></contact_phone>
        <contact_email></contact_email>
      </ethics_review>
    </ethics_reviews>
  </trial>
</trials>
