Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie)
试验速览
- 阶段
- 2 期
- 入组人数
- 15
- 主要终点
- Change in ptosis index
研究概览
简要总结
The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency).
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- Single (Outcomes Assessor)
入排标准
- 年龄范围
- 2 Months 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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
研究组 & 干预措施
Treatment
Treatment with sulfamethoxazole. Subjects will serve as their own control, by using the data from baseline and after treatment stop.
干预措施: Sulfamethoxazole (Drug)
结局指标
主要结局
Change in ptosis index
时间窗: 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 purse index
时间窗: Change in index between baseline/1 week after treatment stop versus third week of treatment
Lip purse index, single blinded measurement on photographs
Change in ptosis on myasthenia gravis composite scale
时间窗: 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 lip length index
时间窗: Change in index between baseline/1 week after treatment stop versus third week of treatment
lip length index, single blinded measurement on photographs
次要结局
- Change in muscle strength(Change in strength between baseline/1 week after treatment stop versus third week of treatment)
- Change in satiety(Change in Composite score between baseline/1 week after treatment stop versus third week of treatment)
- Change in myasthenia gravis composite score(Change in score between baseline/1 week after treatment stop versus third week of treatment)
- myasthenia gravis composite dysarthria and eye closure subscores(Change in score between baseline/1 week after treatment stop versus third week of treatment)
- Change in Glycemia(Change between baseline/1 week after treatment stop versus third week of treatment)
- Change in renal ultrasound(development of kidney stones after the third week of treatment versus baseline)
- Change in myasthenia gravis-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(Change in score between baseline/1 week after treatment stop versus third week of treatment)
- Change in neuropsychology Brief(Change in score between baseline/1 week after treatment stop versus third week of treatment)
- Change in neuropsychology Amsterdamse neuropsychologische test(Change in score between baseline/1 week after treatment stop versus third week of treatment)
- Change in Insulin(Change between baseline/1 week after treatment stop versus third week of treatment)
- Change in IGF1(Change between baseline/1 week after treatment stop versus third week of treatment)
- Change in IGFPB3(Change between baseline/1 week after treatment stop versus third week of treatment)
- Change in pupillometry(Change between baseline/1 week after treatment stop versus third week of treatment)
- Change in complete blood count(Change between baseline/1 week after treatment stop versus third week of treatment)