Hypotonia Cystinuria Syndrome, Isolated PREPL Deficiency
Conditions
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).
Interventions
DRUGSulfamethoxazole
60 mg sulfamethoxazole per kg bodyweight (maximal of 3g) divided in 2 doses per day during 3 weeks
Sponsors
KU Leuven
Universitair Ziekenhuis Brussel
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
SINGLE (Outcomes Assessor)
Eligibility
Sex/Gender
ALL
Age
2 Months to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in ptosis on myasthenia gravis composite scale | 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 | 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 | 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 | Change in index between baseline/1 week after treatment stop versus third week of treatment | Lip purse index, single blinded measurement on photographs |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in complete blood count | Change between baseline/1 week after treatment stop versus third week of treatment | complete blood count (development of cytopenia) |
| Change in Glycemia | Change between baseline/1 week after treatment stop versus third week of treatment | Glycemia |
| Change in renal ultrasound | development of kidney stones after the third week of treatment versus baseline | renal ultrasound |
| Change in myasthenia gravis-activities of daily life | 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 | Change in score between baseline/1 week after treatment stop versus third week of treatment | composite score of Child Behaviour checklist |
| Change in satiety | 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 neuropsychology Amsterdamse neuropsychologische test | 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 | Change between baseline/1 week after treatment stop versus third week of treatment | insulin |
| Change in IGF1 | Change between baseline/1 week after treatment stop versus third week of treatment | IGF-1 |
| Change in IGFPB3 | Change between baseline/1 week after treatment stop versus third week of treatment | IGFBP3 |
| Change in pupillometry | Change between baseline/1 week after treatment stop versus third week of treatment | dynamic pupillometry with infrared camera |
| Change in neuropsychology Brief | Change in score between baseline/1 week after treatment stop versus third week of treatment | composite score of Brief |
| Change in myasthenia gravis composite score | 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 | Change in score between baseline/1 week after treatment stop versus third week of treatment | scored on video |
| Change in muscle strength | Change in strength between baseline/1 week after treatment stop versus third week of treatment | scored with hand-held manometry |
Outcome results
None listed