UnknownPhase 2

Sulfamethoxazole for the Treatment of Primary PREPL Deficiency

15 participantsStarted 2015-10

Plain-language summary

The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency).

Who can participate

Age range

2 Months

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change in ptosis on myasthenia gravis composite scale

Timeframe: Change in score between baseline/1 week after treatment stop versus third week of treatment

Change in ptosis index

Timeframe: Change in index between baseline/1 week after treatment stop versus third week of treatment

Change in lip length index

Timeframe: Change in index between baseline/1 week after treatment stop versus third week of treatment

Change in lip purse index

Timeframe: Change in index between baseline/1 week after treatment stop versus third week of treatment

Trial details

NCT IDNCT02640443

SponsorUniversitair Ziekenhuis Brussel

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2016-10

View on ClinicalTrials.gov More Hypotonia Cystinuria Syndrome trials

Who can participate

Age range

2 Months

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Change in ptosis on myasthenia gravis composite scale

Timeframe: Change in score between baseline/1 week after treatment stop versus third week of treatment

Change in ptosis index

Timeframe: Change in index between baseline/1 week after treatment stop versus third week of treatment

Change in lip length index

Timeframe: Change in index between baseline/1 week after treatment stop versus third week of treatment

Change in lip purse index

Timeframe: Change in index between baseline/1 week after treatment stop versus third week of treatment