Sulfamethoxazole treatment of primary PREPL deficiency

Sulfamethoxazole treatment of primary PREPL deficiency - Sulfamethoxazole for HCS

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2013-005475-41-BE

Enrollment

Registered

2014-05-19

Start date

2014-11-05

Completion date

Unknown

Last updated

2025-01-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hypotonia-cystinuria syndrome and isolated PREPL deficiency.

Interventions

Product Name: sulfamethoxazole Pharmaceutical Form: Syrup INN or Proposed INN: SULFAMETHOXAZOLE CAS Number: 723-46-6 Concentration unit: mg/ml milligram(s)/millilitre Concentration type: equal Concent

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Diagnosis of hypotonia cystinuria syndrome or isolated PREPL deficiency by molecular genetics. Able to be compliant with the study protocol. Not of childbearing age (women). Children and adults. Are the trial subjects under 18? yes Number of subjects for this age range: 15 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 8 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range

Exclusion criteria

Exclusion criteria: Not able to comply with the study protocol Women of childbearing age Concomitant neuromuscular disease

Design outcomes

Primary

Measure	Time frame
Main Objective: Evaluation of therapeutic effect of sulfamethoxazole in patients with primary PREPL deficiency (hypotonia-cystinuria syndrome or isolated PREPL deficiency). These syndromes are characterized by severe neonatal hypotonia, which improves spontaneously. However, ptosis, dysarthria, facial weakness and mild proximal weakness persist. We want to evaluate the effects on these neuromuscular symptoms systematically, as we observed improvement during treatment with sulfamethoxazole-trimethoprim. As sulfamethoxazole has sulfonylurea side effects, it is the best candidate to explain this therapeutic effect.;Secondary Objective: Evaluation of therapeutic effect of sulfamethoxazole in patients with primary PREPL deficiency on non-neuromuscular symptoms. These patients also have growth hormone deficiency, childhood overeating with obesity and variable cognitive difficulties. During the trial we will analyse neuropsychology, satiety and growth hormone.;Primary end point(s): Ptosis evaluated with the MG composite, single blinded (videotape) Ptosis evaluated with ptosis index (photograph, single blinded) Facial weakness evaluated with lip length and snout index Comparison between baseline and treatment and between treatment and stop of treatment;Timepoint(s) of evaluation of this end point: After three weeks of treatment. (Baseline of 7 days, posttreatment of 7 days)	—

Measure

Time frame

Main Objective: Evaluation of therapeutic effect of sulfamethoxazole in patients with primary PREPL deficiency (hypotonia-cystinuria syndrome or isolated PREPL deficiency). These syndromes are characterized by severe neonatal hypotonia, which improves spontaneously. However, ptosis, dysarthria, facial weakness and mild proximal weakness persist. We want to evaluate the effects on these neuromuscular symptoms systematically, as we observed improvement during treatment with sulfamethoxazole-trimethoprim. As sulfamethoxazole has sulfonylurea side effects, it is the best candidate to explain this therapeutic effect.;Secondary Objective: Evaluation of therapeutic effect of sulfamethoxazole in patients with primary PREPL deficiency on non-neuromuscular symptoms. These patients also have growth hormone deficiency, childhood overeating with obesity and variable cognitive difficulties. During the trial we will analyse neuropsychology, satiety and growth hormone.;Primary end point(s): Ptosis evaluated with the MG composite, single blinded (videotape) Ptosis evaluated with ptosis index (photograph, single blinded) Facial weakness evaluated with lip length and snout index Comparison between baseline and treatment and between treatment and stop of treatment;Timepoint(s) of evaluation of this end point: After three weeks of treatment. (Baseline of 7 days, posttreatment of 7 days)

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Secondary

Measure	Time frame
Secondary end point(s): Myasthenia gravis composite, myasthenia gravis composite dysarthria score, myasthenia gravis composite eye closure score, muscle force (manual dynamometry) MG-ADL, Neuropsychological tests: Amsterdamse test, CBCL, BRIEF. Blood measures: Complete blood count, glycemia, IGF-1, insulin, IGFBP3;Timepoint(s) of evaluation of this end point: Also after 3weeks of treatment.	—

Countries

Belgium

Contacts

Public ContactSulfamethoxazole trial

UZ Brussel

regal.luc@med.kuleuven.be003224776061

Outcome results

None listed

Source: EU CTR (via WHO ICTRP) · Data processed: Feb 4, 2026