Oxygen as an Acute Treatment in Alternating Hemiplegia of Childhood

NCT06248645 | Completed Phase 2

• 1 other identifier: APHP230673
• Study Type: interventional
• Target: 24
• Locations: 1 country
• Sites: 2

Brief Summary

Alternating hemiplegia of childhood (AHC) is a rare early-onset neurodevelopmental encephalopathy frequently caused by mutations in the ATP1A3 gene. It is typically characterized by a variable degree of intellectual disability, motor dysfunction and various paroxysmal events (dystonic and plegic attacks). Dystonic and plegic attacks are very disabling and current treatments are disappointing with limited efficacy and poor tolerability. The investigators recently reported the efficacy of high-flow oxygen administration (100% O2 at a flow rate of 12 L/min) as an acute treatment for the dystonic attacks in a 25-year-old patient suffering from AHC. The aim of the study is to assess the effect of high-flow oxygen administration (against placebo) as an acute treatment of dystonic and plegic attacks. The primary outcome will be the proportion of motor attacks stopped 30 minutes after the beginning of motor symptoms over 5 weeks.

Conditions

Alternating Hemiplegia of Childhood

Outcome Measures

Primary Outcomes (1)

• Proportion of motor attacks stopped 30 minutes after the beginning of motor symptoms over 5 weeks.

  The primary outcome will be the proportion of motor attacks stopped 30 minutes after the beginning of motor symptoms over 5 weeks.

  5 weeks

Secondary Outcomes (9)

• the median duration of dystonic and plegic attacks over 5 weeks

  5 weeks

• the evaluation of the quality of life for patients (PELHS-QOL-2 Pediatric Epilepsy Learning Healthcare System Quality of Liferated, from 2 to 8) and caregivers (adapted from the PELHS-QOL-2) at the end of the 5 weeks of treatment

  5 weeks

• the frequency of motor attacks over 5 weeks

  5 weeks

• the consumption of sedative treatments over 5 weeks (number of doses used)

  5 weeks

• treatment tolerance, in particular mouth and nasal dryness, cutaneous irritation, cough, nasal congestion, nausea, other unexpected side effects

  5 weeks

Study Arms (2)

Oxygen followed by placebo

OTHER

Treatment of each motor attacks by oxygen (gaz) during 15 minutes in the first 5 week-period and placebo (medical air) during 15 minutes in the second 5 week-period.

Drug: Oxygen; Drug: Placebo

Placebo followed by oxygen

OTHER

Treatment of each motor attacks by placebo (medical air) during 15 minutes, in the first 5 week-period and oxygen (gaz) during 15 minutes in the second 5 week-period.

Drug: Oxygen; Drug: Placebo

Interventions

Oxygen DRUG

High-flow oxygen (12 L/min) administered with a non-rebreathing facial mask, started as soon as possible after the beginning of the attack and for 15 minutes.

Oxygen followed by placebo; Placebo followed by oxygen

Placebo DRUG

High-flow medical air (12 L/min) administered with a non-rebreathing facial mask, started as soon as possible after the beginning of the attack and for 15 minutes.

Also known as: médical Air

Oxygen followed by placebo; Placebo followed by oxygen

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Age \> 1 year old
• Patients able to administrate high-flow oxygen through a non rebreathing facial mask, either alone or with assistance
• Patients with a diagnosis of AHC caused by ATP1A3 mutations presenting at least one dystonic or plegic attack per week lasting more than 30 minutes
• Absence of long-term treatment or long-term treatment stable over the last month and during the duration of the trial
• Patients able to give written informed consent
• Affiliation to social insurance

You may not qualify if:

• Inability for the patients and/or caregivers to follow the protocol (inability to read or understand the instructions, no access to smartphone or computer to fill the informatics patient's form)
• Patients with severe or uncontrolled obstructive or restrictive chronic respiratory disease (asthma, COPD, obesity, neuromuscular disease), acute systemic aggression (acute coronary syndrome, stroke, sepsis, head trauma) or congenital cardiopathy with a risk of hypercapnia following oxygen administration
• Patients involved in an other clinical trial

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (2)

HCL LYON

Lyon, France

Location

Hôpital Pitié Salpêtrière

Paris, 75013, France

Location

MeSH Terms

Conditions

Alternating hemiplegia of childhood

Interventions

Oxygen

Intervention Hierarchy (Ancestors)

Chalcogens; Elements; Inorganic Chemicals; Gases

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 31, 2024
• First Posted: February 8, 2024
• Study Start: September 16, 2024
• Primary Completion: March 3, 2026
• Study Completion: March 31, 2026
• Last Updated: April 13, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (2)