Glibenclamide treatment in hypotonia-cystinuria syndrome

Glibenclamide treatment in hypotonia-cystinuria syndrome - Glibenclamide treatment in hypotonia-cystinuria syndrome

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2012-000814-13-BE

Enrollment

Registered

2012-02-17

Start date

2012-03-16

Completion date

Unknown

Last updated

2024-09-30

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

Conditions

Hypotonia-cystinuria syndrome/PREPL deficiency

Interventions

Trade Name: Daonil Pharmaceutical Form: Capsule INN or Proposed INN: GLIBENCLAMIDE CAS Number: 10238-21-8 Concentration unit: mg/kg milligram(s)/kilogram Concentration type: range Concentration number

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Diagnosis of hypotonia-cystinuria syndrome/PREPL deficiency, confirmed by molecular genetic analysis. Age =65 years) no F.1.3.1 Number of subjects for this age range

Exclusion criteria

Exclusion criteria: Intolerance for glibenclamide. History of hyperinsulinism or other contraindications for glibenclamide.

Design outcomes

Primary

Measure	Time frame
Main Objective: Evaluation of the effect of glibenclamide on hypotonia in hypotonia-cystinuria syndrome/PREPL deficiency. Evaluation of the effect glibenclamide on growth hormone secretion in hypotonia-cystinuria syndrome/PREPL deficiency.;Secondary Objective: no;Primary end point(s): Evolution of hypotonia (6min walk test, maximal inspiratory and exspiratory pressure, manual newtonmetry, MG-ADL, MG composite, AIMS score) after start of glibenclamide. If improvement is seen: evolution 2days after stop of optimal dose of glibenclamide. Evolution of glycemia during 24h, IGF1 after 24h, IGFBP3 after 24h treatment, GH first 4hours, insulin first 4 hours;Timepoint(s) of evaluation of this end point: Hypotonia evaluation: 4 hours after intake of glibenclamide glycemia: every 30 min during first 4h, afterwards every 1h GH and insulin every 30 min (4h)	—

Measure

Time frame

Main Objective: Evaluation of the effect of glibenclamide on hypotonia in hypotonia-cystinuria syndrome/PREPL deficiency. Evaluation of the effect glibenclamide on growth hormone secretion in hypotonia-cystinuria syndrome/PREPL deficiency.;Secondary Objective: no;Primary end point(s): Evolution of hypotonia (6min walk test, maximal inspiratory and exspiratory pressure, manual newtonmetry, MG-ADL, MG composite, AIMS score) after start of glibenclamide. If improvement is seen: evolution 2days after stop of optimal dose of glibenclamide. Evolution of glycemia during 24h, IGF1 after 24h, IGFBP3 after 24h treatment, GH first 4hours, insulin first 4 hours;Timepoint(s) of evaluation of this end point: Hypotonia evaluation: 4 hours after intake of glibenclamide glycemia: every 30 min during first 4h, afterwards every 1h GH and insulin every 30 min (4h)

—

Secondary

Measure	Time frame
Secondary end point(s): no;Timepoint(s) of evaluation of this end point: no	—

Countries

Belgium

Contacts

Public ContactHCS trial

University Hospital Leuven

luc.regal@uzleuven.be003216343820

Outcome results

None listed

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