Clinical Trial: Sulfamethoxazole for the Treatment of Primary PREPL Deficiency

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Interventional

Official Title: Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie)

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).

Detailed Summary:
Sponsor: Universitair Ziekenhuis Brussel

Current Primary Outcome:

  • Change in ptosis on myasthenia gravis composite scale [ Time Frame: Change in score between baseline/1 week after treatment stop versus third week of treatment ]
    ptosis item on the myasthenia gravis composite scale: single blinded scoring on video-images
  • Change in ptosis index [ Time Frame: Change in index between baseline/1 week after treatment stop versus third week of treatment ]
    ptosis index, single blinded measurement on photograph
  • Change in lip length index [ Time Frame: Change in index between baseline/1 week after treatment stop versus third week of treatment ]
    lip length index, single blinded measurement on photographs
  • Change in lip purse index [ Time Frame: Change in index between baseline/1 week after treatment stop versus third week of treatment ]
    Lip purse index, single blinded measurement on photographs


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Change in satiety [ Time Frame: Change in Composite score between baseline/1 week after treatment stop versus third week of treatment ]
    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 [ Time Frame: Change in score between baseline/1 week after treatment stop versus third week of treatment ]
    Sum of all the subscores
  • myasthenia gravis composite dysarthria and eye closure subscores [ Time Frame: Change in score between baseline/1 week after treatment stop versus third week of treatment ]
    scored on video
  • Change in muscle strength [ Time Frame: Change in strength between baseline/1 week after treatment stop versus third week of treatment ]
    scored with hand-held manometry
  • Change in complete blood count [ Time Frame: Change between baseline/1 week after treatment stop versus third week of treatment ]
    complete blood count (development of cytopenia)
  • Change in Glycemia [ Time Frame: Change between baseline/1 week after treatment stop versus third week of treatment ]
    Glycemia
  • Change in renal ultrasound [ Time Frame: development of kidney stones after the third week of treatment versus baseline ]
    renal ultrasound
  • Change in myasthenia gravis-activities of daily life [ Time Frame: Change in score between baseline/1 week after treatment stop versus third week of treatment ]
    Scale with rating of activities of daily life
  • Change in neuropsychology Child Behaviour checklist [ Time Frame: Change in score between baseline/1 week after treatment stop versus third week of treatment ]
    composite score of Child Behaviour checklist
  • Change in neuropsychology Brief [ Time Frame: Change in score between baseline/1 week after treatment stop versus third week of treatment ]
    composite score of Brief
  • Change in neuropsychology Amsterdamse neuropsychologische test [ Time Frame: Change in score between baseline/1 week after treatment stop versus third week of treatment ]
    composite score of Amsterdamse Neuropsychologische test (ANT)
  • Change in Insulin [ Time Frame: Change between baseline/1 week after treatment stop versus third week of treatment ]
    insulin
  • Change in IGF1 [ Time Frame: Change between baseline/1 week after treatment stop versus third week of treatment ]
    IGF-1
  • Change in IGFPB3 [ Time Frame: Change between baseline/1 week after treatment stop versus third week of treatment ]
    IGFBP3
  • Change in pupillometry [ Time Frame: Change between baseline/1 week after treatment stop versus third week of treatment ]
    dynamic pupillometry with infrared camera


Original Secondary Outcome: Same as current

Information By: Universitair Ziekenhuis Brussel

Dates:
Date Received: October 7, 2015
Date Started: October 2015
Date Completion: October 2016
Last Updated: December 22, 2015
Last Verified: October 2015