Development of a scoring system for classifying periods of restlessness in pontocerebellar hypoplasia type 2A

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00037993

Enrollment

Registered

2025-09-25

Start date

2025-09-22

Completion date

Unknown

Last updated

2026-06-01

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

Conditions

Q04.3

Interventions

Group 1: Patients with genetically confirmed pontocerebellar hypoplasia type 2A Videos of patients and a questionnaire are analyzed by medical professionals to classify restlessness, in the following

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Genetically confirmed PCH2A, occurrence of at least one painful state of restlessness in the past, if included in life, written consent of legal guardians/caregivers

Exclusion criteria

Exclusion criteria: unmet inclusion criteria

Design outcomes

Primary

Measure	Time frame
Kappa coefficient (interrater reliability) for questionnaire + video	—

Secondary

Measure	Time frame
Descriptive description of the patient group as well as duration of restlessness, triggers, measures, severity, accompanying symptoms, occurrence during the day Differentiation of ratings using appropriate statistical tests (e.g., Friedmann test) Kappa coefficient for questionnaire and video separately, followed by a comparison of the different kappa coefficients using bootstrap analysis Comparison of the kappa coefficients of medical and non-medical staff or medically trained participants and non-medically trained participants	—

Measure

Time frame

Descriptive description of the patient group as well as duration of restlessness, triggers, measures, severity, accompanying symptoms, occurrence during the day Differentiation of ratings using appropriate statistical tests (e.g., Friedmann test) Kappa coefficient for questionnaire and video separately, followed by a comparison of the different kappa coefficients using bootstrap analysis Comparison of the kappa coefficients of medical and non-medical staff or medically trained participants and non-medically trained participants

—

Countries

Austria, Germany, Switzerland

Contacts

Public ContactWibke Janzarik

Klinik für Neuropädiatrie und Muskelerkrankungen

wibke.janzarik@uniklinik-freiburg.de+4976127043847

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Jun 11, 2026