Cystadane in the treatment of AGU

Open-label study to evaluate efficacy and safety of Cystadane for the treatment of aspartylglucosaminuria - Cystadane in the treatment of AGU

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2017-000645-48-FI

Enrollment

Registered

2017-05-31

Start date

2017-09-21

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

Aspartylglucosaminuria

Interventions

Trade Name: Cystadane anhydrous Pharmaceutical Form: Oral powder

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patients below the age of 15 years who have aspartylglucosaminuria Preferably homozygous for the Finnish major AGU mutation, AGU-Fin-major Written informed consent of the parents No known hypersensitivity or allergy against betain Compliance of the patient Are the trial subjects under 18? yes Number of subjects for this age range: 15 F.1.2 Adults (18-64 years) no F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range

Exclusion criteria

Exclusion criteria: Age above 15 years Patients who do not carry at least one allele of the Finnish major mutation Known adverse reactions against Betain or components of Cystadane Known history of cerebral oedema Participating in other interventional clinical studies Patients who have undergone bone marrow tranplantation Co-medication which would interfere with administration of Betain

Design outcomes

Primary

Measure	Time frame
Main Objective: Safety and efficacy of Cystadane in the treatment of AGU;Secondary Objective: Urine glycoasparagines AGA enzyme activity in white blood cells Cognitive function and psychological tests Quality of life survey Adaptive skills MRI findings of the brain Methionin level Absence of adverse events ;Primary end point(s): Primary endpoint is the urinary excretion of glycoasaparagines;Timepoint(s) of evaluation of this end point: 0 months (starting point) 3 months 6 months 12 months 15 months 24 months 36 months 48 months	—

Measure

Time frame

Main Objective: Safety and efficacy of Cystadane in the treatment of AGU;Secondary Objective: Urine glycoasparagines AGA enzyme activity in white blood cells Cognitive function and psychological tests Quality of life survey Adaptive skills MRI findings of the brain Methionin level Absence of adverse events ;Primary end point(s): Primary endpoint is the urinary excretion of glycoasaparagines;Timepoint(s) of evaluation of this end point: 0 months (starting point) 3 months 6 months 12 months 15 months 24 months 36 months 48 months

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Secondary

Measure	Time frame
Secondary end point(s): AGA enzyme activity in white blood cells Psychological tests Visit at child neurologists Quality of life survey Adaptive skills MRI findings of the brain Methionin Level in serum Absence of adverse events;Timepoint(s) of evaluation of this end point: AGA enzyme activity in white blood cells: 0, 3, 6, 12, 15, 24, 36, 48 months Psychological tests: 0, 24, 48 months Child neurologist: 0,3 , 12, 15, 24, 36, 48 months Quality of life survey: 0, 12, 24, 36, 48 months Adaptive skills: 0, 12, 24, 36, 48 months MRI findings of the brain: 0, 12, 24, 36, 48 months Methionin level: 0, 3, 6, 12, 24 months Absence of adverse events: continuously	—

Measure

Time frame

Secondary end point(s): AGA enzyme activity in white blood cells Psychological tests Visit at child neurologists Quality of life survey Adaptive skills MRI findings of the brain Methionin Level in serum Absence of adverse events;Timepoint(s) of evaluation of this end point: AGA enzyme activity in white blood cells: 0, 3, 6, 12, 15, 24, 36, 48 months Psychological tests: 0, 24, 48 months Child neurologist: 0,3 , 12, 15, 24, 36, 48 months Quality of life survey: 0, 12, 24, 36, 48 months Adaptive skills: 0, 12, 24, 36, 48 months MRI findings of the brain: 0, 12, 24, 36, 48 months Methionin level: 0, 3, 6, 12, 24 months Absence of adverse events: continuously

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Countries

Finland

Contacts

Public ContactProf. Dr. Ritva Tikkanen

University of Giessen

ritva.tikkanen@biochemie.med.uni-giessen.de496419947420

Outcome results

None listed

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