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| Name | Class |
|---|---|
| KU Leuven | OTHER |
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The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Treatment | Experimental | Treatment with sulfamethoxazole. Subjects will serve as their own control, by using the data from baseline and after treatment stop. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Sulfamethoxazole | Drug | 60 mg sulfamethoxazole per kg bodyweight (maximal of 3g) divided in 2 doses per day during 3 weeks |
|
| Measure | Description | Time Frame |
|---|---|---|
| Change in ptosis on myasthenia gravis composite scale | ptosis item on the myasthenia gravis composite scale: single blinded scoring on video-images | Change in score between baseline/1 week after treatment stop versus third week of treatment |
| Change in ptosis index | ptosis index, single blinded measurement on photograph | Change in index between baseline/1 week after treatment stop versus third week of treatment |
| Change in lip length index | lip length index, single blinded measurement on photographs | Change in index between baseline/1 week after treatment stop versus third week of treatment |
| Change in lip purse index | Lip purse index, single blinded measurement on photographs | Change in index between baseline/1 week after treatment stop versus third week of treatment |
| Measure | Description | Time Frame |
|---|---|---|
| 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 Composite score between baseline/1 week after treatment stop versus third week of treatment |
| Change in myasthenia gravis composite score |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Luc Régal, MD | Universitair Ziekenhuis Brussel | Principal Investigator |
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| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 24610330 | Background | 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. |
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| ID | Term |
|---|---|
| C564710 | Hypotonia-Cystinuria Syndrome |
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| ID | Term |
|---|---|
| D013420 | Sulfamethoxazole |
| ID | Term |
|---|---|
| D000096926 | Benzenesulfonamides |
| D013449 | Sulfonamides |
| D000577 | Amides |
| D009930 | Organic Chemicals |
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Sum of all the subscores |
| Change in score between baseline/1 week after treatment stop versus third week of treatment |
| myasthenia gravis composite dysarthria and eye closure subscores | scored on video | Change in score between baseline/1 week after treatment stop versus third week of treatment |
| Change in muscle strength | scored with hand-held manometry | Change in strength between baseline/1 week after treatment stop versus third week of treatment |
| Change in complete blood count | complete blood count (development of cytopenia) | Change between baseline/1 week after treatment stop versus third week of treatment |
| Change in Glycemia | Glycemia | Change between baseline/1 week after treatment stop versus third week of treatment |
| Change in renal ultrasound | renal ultrasound | development of kidney stones after the third week of treatment versus baseline |
| Change in myasthenia gravis-activities of daily life | Scale with rating of activities of daily life | Change in score between baseline/1 week after treatment stop versus third week of treatment |
| Change in neuropsychology Child Behaviour checklist | composite score of Child Behaviour checklist | Change in score between baseline/1 week after treatment stop versus third week of treatment |
| Change in neuropsychology Brief | composite score of Brief | Change in score between baseline/1 week after treatment stop versus third week of treatment |
| Change in neuropsychology Amsterdamse neuropsychologische test | composite score of Amsterdamse Neuropsychologische test (ANT) | Change in score between baseline/1 week after treatment stop versus third week of treatment |
| Change in Insulin | insulin | Change between baseline/1 week after treatment stop versus third week of treatment |
| Change in IGF1 | IGF-1 | Change between baseline/1 week after treatment stop versus third week of treatment |
| Change in IGFPB3 | IGFBP3 | Change between baseline/1 week after treatment stop versus third week of treatment |
| Change in pupillometry | dynamic pupillometry with infrared camera | Change between baseline/1 week after treatment stop versus third week of treatment |
| D013424 |
| Sulfanilamides |
| D000814 | Aniline Compounds |
| D000588 | Amines |
| D001555 | Benzene Derivatives |
| D006841 | Hydrocarbons, Aromatic |
| D006844 | Hydrocarbons, Cyclic |
| D006838 | Hydrocarbons |
| D013450 | Sulfones |
| D013457 | Sulfur Compounds |