Epidemiology and precise phenotyping of arginase deficiency through targeted diagnostics of symptomatic patients

Epidemiology and precise phenotyping of arginase deficiency through targeted diagnostics of symptomatic patients - EPArg

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00033479

Enrollment

Registered

2024-02-01

Start date

2024-02-23

Completion date

Unknown

Last updated

2026-03-02

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

Conditions

ORPHA:90 Arginase deficiency (argininaemia) E72.2

Interventions

Group 1: Non-interventional, uncontrolled observational study (open) with anonymous (arm 1, without informed consent) or pseudonymised (arm 2, with informed consent) data collection. General study pr

Eligibility

Sex/Gender

All

Age

No minimum to 17 Years

Inclusion criteria

Inclusion criteria: Arm 1: - Confirmed arginase deficiency (biochemically, enzymatically or molecularly confirmed). Arm 2: - Presence of a progressive spastic syndrome that is etiologically unexplained and cannot be explained by the presence of infantile cerebral palsy. - Presence of a complete, valid informed consent form from the legal guardians and, if possible, from the underage patients according to their age group. - Optional: Presence of one or more of the following symptoms: cognitive developmental disorder, failure to thrive, epilepsy, history of hyperammonaemia (> 1 documented episode)

Exclusion criteria

Exclusion criteria: Arm 1: - Adults = 18 years. Arm 2: - Adults = 18 years of age. - Invalid or incomplete informed consent form available. - Patients who have already undergone genetic analysis (exome or genome sequencing, Sanger sequencing of the ARG1 gene) without evidence of the biallelic presence of pathogenic ARG1 variants. - Patients with previous determination of amino acids in plasma or dried blood that have ruled out the presence of arginase deficiency.

Design outcomes

Primary

Measure	Time frame
- To determine the prevalence of arginase deficiency in children and adolescents up to 18 years of age by surveying the number of diagnosed cases of arginase deficiency in Germany, Austria and Switzerland. - Description of the clinical spectrum and disease course of arginase deficiency based on the distribution and frequency of disease-specific symptoms. - Shortening the diagnostic latency in patients (< 18 years) with a suggestive medical history (etiologically unexplained, progressive spastic syndrome) by specifically clarifying the presence of arginase deficiency.	—

Measure

Time frame

- To determine the prevalence of arginase deficiency in children and adolescents up to 18 years of age by surveying the number of diagnosed cases of arginase deficiency in Germany, Austria and Switzerland. - Description of the clinical spectrum and disease course of arginase deficiency based on the distribution and frequency of disease-specific symptoms. - Shortening the diagnostic latency in patients (< 18 years) with a suggestive medical history (etiologically unexplained, progressive spastic syndrome) by specifically clarifying the presence of arginase deficiency.

—

Countries

Austria, Germany, Switzerland

Contacts

Public ContactSvenja Scharre

Universität Heidelberg, Medizinische Fakultät Heidelberg, Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin

Svenja.Scharre@med.uni-heidelberg.de+49 6221 5632886

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Mar 14, 2026