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