Sulfamethoxazole for the Treatment of Primary PREPL Deficiency

Universitair Ziekenhuis Brussel15 enrolled

Overview

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

Study Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

SINGLE

Enrollment

Conditions

Hypotonia Cystinuria Syndrome Isolated PREPL Deficiency

Interventions

SulfamethoxazoleDRUG

60 mg sulfamethoxazole per kg bodyweight (maximal of 3g) divided in 2 doses per day during 3 weeks

Eligibility

Sex: ALLMin age: 2 Months

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

Change in ptosis on myasthenia gravis composite scale

ptosis item on the myasthenia gravis composite scale: single blinded scoring on video-images

Time frame: 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

Time frame: 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

Time frame: 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

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

Secondary Outcomes

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)

Time frame: Change in Composite score between baseline/1 week after treatment stop versus third week of treatment

Change in myasthenia gravis composite score

Sum of all the subscores

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

myasthenia gravis composite dysarthria and eye closure subscores

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.