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Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (SPPD)

Primary Purpose

Hypotonia Cystinuria Syndrome, Isolated PREPL Deficiency

Status
Unknown status
Phase
Phase 2
Locations
Study Type
Interventional
Intervention
Sulfamethoxazole
Sponsored by
Universitair Ziekenhuis Brussel
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Hypotonia Cystinuria Syndrome

Eligibility Criteria

2 Months - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria:

  • patients with molecular confirmation of primary PREPL deficiency
  • who are able to follow the study protocol (for the primary endpoint)
  • who have given written informed consent

Exclusion Criteria:

  • age<2m
  • women of child-bearing age unless using a reliable method for contraception and not pregnant at study entrance
  • additional diagnosis with influence on muscle force
  • not able to follow the study protocol (for the primary endpoint)
  • history of sulfonamide hypersensitivity
  • diminished renal function based on serum creatinine
  • transaminases higher than 3 times the upper limit of normal
  • for the pupillometry: eye pathology with the exception of refractive errors, drugs with influence on the pupillary light reflex

Sites / Locations

    Arms of the Study

    Arm 1

    Arm Type

    Experimental

    Arm Label

    Treatment

    Arm Description

    Treatment with sulfamethoxazole. Subjects will serve as their own control, by using the data from baseline and after treatment stop.

    Outcomes

    Primary Outcome Measures

    Change in ptosis on myasthenia gravis composite scale
    ptosis item on the myasthenia gravis composite scale: single blinded scoring on video-images
    Change in ptosis index
    ptosis index, single blinded measurement on photograph
    Change in lip length index
    lip length index, single blinded measurement on photographs
    Change in lip purse index
    Lip purse index, single blinded measurement on photographs

    Secondary Outcome Measures

    Change in satiety
    satiety scale (visual analog); 4 questions are asked, a compositie score is made, by adding the different scores (the answers on questions 2 and 3 are counted as negative values)
    Change in myasthenia gravis composite score
    Sum of all the subscores
    myasthenia gravis composite dysarthria and eye closure subscores
    scored on video
    Change in muscle strength
    scored with hand-held manometry
    Change in complete blood count
    complete blood count (development of cytopenia)
    Change in Glycemia
    Glycemia
    Change in renal ultrasound
    renal ultrasound
    Change in myasthenia gravis-activities of daily life
    Scale with rating of activities of daily life
    Change in neuropsychology Child Behaviour checklist
    composite score of Child Behaviour checklist
    Change in neuropsychology Brief
    composite score of Brief
    Change in neuropsychology Amsterdamse neuropsychologische test
    composite score of Amsterdamse Neuropsychologische test (ANT)
    Change in Insulin
    insulin
    Change in IGF1
    IGF-1
    Change in IGFPB3
    IGFBP3
    Change in pupillometry
    dynamic pupillometry with infrared camera

    Full Information

    First Posted
    October 7, 2015
    Last Updated
    December 22, 2015
    Sponsor
    Universitair Ziekenhuis Brussel
    Collaborators
    KU Leuven
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    1. Study Identification

    Unique Protocol Identification Number
    NCT02640443
    Brief Title
    Sulfamethoxazole for the Treatment of Primary PREPL Deficiency
    Acronym
    SPPD
    Official Title
    Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie)
    Study Type
    Interventional

    2. Study Status

    Record Verification Date
    October 2015
    Overall Recruitment Status
    Unknown status
    Study Start Date
    October 2015 (undefined)
    Primary Completion Date
    October 2016 (Anticipated)
    Study Completion Date
    October 2016 (Anticipated)

    3. Sponsor/Collaborators

    Responsible Party, by Official Title
    Sponsor
    Name of the Sponsor
    Universitair Ziekenhuis Brussel
    Collaborators
    KU Leuven

    4. Oversight

    Data Monitoring Committee
    No

    5. Study Description

    Brief Summary
    The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency).

    6. Conditions and Keywords

    Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
    Hypotonia Cystinuria Syndrome, Isolated PREPL Deficiency

    7. Study Design

    Primary Purpose
    Treatment
    Study Phase
    Phase 2
    Interventional Study Model
    Single Group Assignment
    Masking
    Outcomes Assessor
    Allocation
    N/A
    Enrollment
    15 (Anticipated)

    8. Arms, Groups, and Interventions

    Arm Title
    Treatment
    Arm Type
    Experimental
    Arm Description
    Treatment with sulfamethoxazole. Subjects will serve as their own control, by using the data from baseline and after treatment stop.
    Intervention Type
    Drug
    Intervention Name(s)
    Sulfamethoxazole
    Intervention Description
    60 mg sulfamethoxazole per kg bodyweight (maximal of 3g) divided in 2 doses per day during 3 weeks
    Primary Outcome Measure Information:
    Title
    Change in ptosis on myasthenia gravis composite scale
    Description
    ptosis item on the myasthenia gravis composite scale: single blinded scoring on video-images
    Time Frame
    Change in score between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in ptosis index
    Description
    ptosis index, single blinded measurement on photograph
    Time Frame
    Change in index between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in lip length index
    Description
    lip length index, single blinded measurement on photographs
    Time Frame
    Change in index between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in lip purse index
    Description
    Lip purse index, single blinded measurement on photographs
    Time Frame
    Change in index between baseline/1 week after treatment stop versus third week of treatment
    Secondary Outcome Measure Information:
    Title
    Change in satiety
    Description
    satiety scale (visual analog); 4 questions are asked, a compositie score is made, by adding the different scores (the answers on questions 2 and 3 are counted as negative values)
    Time Frame
    Change in Composite score between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in myasthenia gravis composite score
    Description
    Sum of all the subscores
    Time Frame
    Change in score between baseline/1 week after treatment stop versus third week of treatment
    Title
    myasthenia gravis composite dysarthria and eye closure subscores
    Description
    scored on video
    Time Frame
    Change in score between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in muscle strength
    Description
    scored with hand-held manometry
    Time Frame
    Change in strength between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in complete blood count
    Description
    complete blood count (development of cytopenia)
    Time Frame
    Change between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in Glycemia
    Description
    Glycemia
    Time Frame
    Change between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in renal ultrasound
    Description
    renal ultrasound
    Time Frame
    development of kidney stones after the third week of treatment versus baseline
    Title
    Change in myasthenia gravis-activities of daily life
    Description
    Scale with rating of activities of daily life
    Time Frame
    Change in score between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in neuropsychology Child Behaviour checklist
    Description
    composite score of Child Behaviour checklist
    Time Frame
    Change in score between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in neuropsychology Brief
    Description
    composite score of Brief
    Time Frame
    Change in score between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in neuropsychology Amsterdamse neuropsychologische test
    Description
    composite score of Amsterdamse Neuropsychologische test (ANT)
    Time Frame
    Change in score between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in Insulin
    Description
    insulin
    Time Frame
    Change between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in IGF1
    Description
    IGF-1
    Time Frame
    Change between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in IGFPB3
    Description
    IGFBP3
    Time Frame
    Change between baseline/1 week after treatment stop versus third week of treatment
    Title
    Change in pupillometry
    Description
    dynamic pupillometry with infrared camera
    Time Frame
    Change between baseline/1 week after treatment stop versus third week of treatment

    10. Eligibility

    Sex
    All
    Minimum Age & Unit of Time
    2 Months
    Accepts Healthy Volunteers
    No
    Eligibility Criteria
    Inclusion Criteria: patients with molecular confirmation of primary PREPL deficiency who are able to follow the study protocol (for the primary endpoint) who have given written informed consent Exclusion Criteria: age<2m women of child-bearing age unless using a reliable method for contraception and not pregnant at study entrance additional diagnosis with influence on muscle force not able to follow the study protocol (for the primary endpoint) history of sulfonamide hypersensitivity diminished renal function based on serum creatinine transaminases higher than 3 times the upper limit of normal for the pupillometry: eye pathology with the exception of refractive errors, drugs with influence on the pupillary light reflex
    Overall Study Officials:
    First Name & Middle Initial & Last Name & Degree
    Luc Régal, MD
    Organizational Affiliation
    Universitair Ziekenhuis Brussel
    Official's Role
    Principal Investigator

    12. IPD Sharing Statement

    Citations:
    PubMed Identifier
    24610330
    Citation
    Regal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG. PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7.
    Results Reference
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    Sulfamethoxazole for the Treatment of Primary PREPL Deficiency

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