Validation of a Clinical Assessment Scale Specific to Alternating Hemiplegia (TREAT-AHC)

Alternating Hemiplegia of Childhood (AHC) is a very rare neurological disorder of genetic origin, combining paroxysmal episodes and neurodevelopmental impairment. The disease is generally sporadic, and its incidence has been estimated at 1 in 100,000 births, with around 500 cases published worldwide. The true prevalence of AHC may be underestimated due to a lack of understanding of the disease and a high degree of phenotypic heterogeneity.

It should be noted that, to date, it is difficult to assess the clinical characteristics of AHC patients in a homogeneous way. The lack of disease-specific clinical outcome measures therefore constitutes a critical node for advancing AHC research. In addition, recognition of the pattern of movement disorders and the ability to classify their severity are very important and useful for the clinician. Homogeneous disease assessment will help plan rehabilitative and pharmacological interventions, facilitate monitoring of treatment outcomes, and predict prognosis.

This is why an AHC assessment scale have been developed in collaboration with clinical teams from the IAHCRC consortium.

The scale has already been tested and validated on Italian and Spanish patients. The aim of this study is therefore to validate the use of this same scale on our French population of AHC patients. The hypothesis of the study is that the practical use of this scale specific to alternating hemiplegia is reproducible. To this end, all the items on the scale will be scored independently for each patient by 4 neuropediatricians with expertise in the disease, in order to observe the reproducibility of the results obtained with this scale. The scale will be used for twenty AHC patients of all ages.

Study Overview

• Status: Completed
• Conditions: Alternating Hemiplegia
• Intervention / Treatment: Other: interview with neurologist

• Study Type: Observational
• Enrollment (Actual): 17

Contacts and Locations

Study Locations

• France
  • Rhone
    • Bron, Rhone, France, 69500
      • Service d'épileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Patients likely to participate in the study will be identified within the ESEFNP Department - Clinical Epileptology, Sleep Disorders, Functional Child Neurology, Hôpital Femme Mère Enfant, (HCL) as part of their regular medical follow-up. 20 AHC patients will be included in this study.

Description

Inclusion Criteria:

• Patient with confirmed diagnosis of AHC, unrestricted age range 0-99 years
• At least one parent and/or legal guardian who understands and speaks the national language

Adult patients :

• Gathering of the non-opposition of the patient and/or his legal representative

Minor patients :

• Collection of non-opposition from parents/guardians

Exclusion Criteria:

• Patient's refusal to participate in the study
• Patient under court protection, unable to give consent

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with alternating hemiplegia; Patients with alternating hemiplegia, from 0 to 99 years old	Other: interview with neurologist; interview with neurologist

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Composite primary endpoint : - missing data from the scale <5 - mean scores compared between the 4 neurologists are close to the scale's mid-point, i.e. floor and ceiling effects are < 20%, and skewness statistics are between 21 and 11	All statistical tests will be performed using SPSS version 24.0 statistical software, and P < 0.05 will be considered significant. Validation of the use of the scale based on the results obtained independently by the 4 expert neurologists using a composite primary endpoint consisting of three criteria: missing data from the scale <5; mean scores compared between the 4 neurologists are close to the scale's mid-point, i.e. floor and ceiling effects are < 20%, and skewness statistics are between 21 and 11.	At inclusion

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon

Study record dates

Study Major Dates

• Study Start (Actual): November 18, 2023
• Primary Completion (Actual): November 19, 2023
• Study Completion (Actual): November 19, 2023

Study Registration Dates

• First Submitted: August 8, 2023
• First Submitted That Met QC Criteria: August 21, 2023
• First Posted (Actual): August 23, 2023

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: February 25, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Keywords: rating scale; Alternating Hemiplegia of Childhood
• Additional Relevant MeSH Terms: Neurologic Manifestations; Nervous System Diseases; Paralysis; Hemiplegia
• Other Study ID Numbers: 69HCL23_0804

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No