Hypotonia Cystinuria Syndrome Clinical Trial
— SPPDOfficial title:
Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie)
The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency).
| Status | Enrolling by invitation |
| Enrollment | 15 |
| Est. completion date | October 2016 |
| Est. primary completion date | October 2016 |
| Accepts healthy volunteers | No |
| Gender | Both |
| Age group | 2 Months and older |
| Eligibility |
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 |
Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Single Blind (Outcomes Assessor), Primary Purpose: Treatment
| Country | Name | City | State |
|---|---|---|---|
| n/a | |||
| Lead Sponsor | Collaborator |
|---|---|
| Universitair Ziekenhuis Brussel | Katholieke Universiteit Leuven |
Régal 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. — View Citation
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | 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 | No |
| Primary | 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 | No |
| Primary | 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 | No |
| Primary | 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 | No |
| Secondary | 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 | No |
| Secondary | Change in myasthenia gravis composite score | Sum of all the subscores | Change in score between baseline/1 week after treatment stop versus third week of treatment | No |
| Secondary | 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 | No |
| Secondary | Change in muscle strength | scored with hand-held manometry | Change in strength between baseline/1 week after treatment stop versus third week of treatment | No |
| Secondary | Change in complete blood count | complete blood count (development of cytopenia) | Change between baseline/1 week after treatment stop versus third week of treatment | Yes |
| Secondary | Change in Glycemia | Glycemia | Change between baseline/1 week after treatment stop versus third week of treatment | Yes |
| Secondary | Change in renal ultrasound | renal ultrasound | development of kidney stones after the third week of treatment versus baseline | Yes |
| Secondary | 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 | No |
| Secondary | 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 | No |
| Secondary | Change in neuropsychology Brief | composite score of Brief | Change in score between baseline/1 week after treatment stop versus third week of treatment | No |
| Secondary | 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 | No |
| Secondary | Change in Insulin | insulin | Change between baseline/1 week after treatment stop versus third week of treatment | No |
| Secondary | Change in IGF1 | IGF-1 | Change between baseline/1 week after treatment stop versus third week of treatment | No |
| Secondary | Change in IGFPB3 | IGFBP3 | Change between baseline/1 week after treatment stop versus third week of treatment | No |
| Secondary | Change in pupillometry | dynamic pupillometry with infrared camera | Change between baseline/1 week after treatment stop versus third week of treatment | No |