Status:
UNKNOWN
Natural History Study of ATP1A3-related Disease
Lead Sponsor:
Institute of Child Health
Collaborating Sponsors:
Great Ormond Street Hospital for Children NHS Foundation Trust
University College, London
Conditions:
ATP1A3-related Disease
Alternating Hemiplegia of Childhood
Eligibility:
All Genders
6-60 years
Brief Summary
An observational study aiming to study the natural history of a UK-wide patient cohort with ATP1A3-related disease.
Detailed Description
Alternating hemiplegia of childhood (AHC) is a rare very disabling neurodevelopmental syndrome caused by mutations in the gene ATP1A3. AHC is characterized by paroxysmal events including attacks of he...
Eligibility Criteria
Inclusion
- Children and adults of any age carrying a mutation in the ATP1A3-gene.
- Children and adults of any age matching an ATP1A3-related disease phenotype without a mutation in the gene.
- Written informed consent given by patient and/or parent/guardian.
Exclusion
- • Patients with a phenotype not fitting ATP1A3-related disease and no mutation in the ATP1A3 gene.
Key Trial Info
Start Date :
September 1 2018
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
August 31 2023
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT03857607
Start Date
September 1 2018
End Date
August 31 2023
Last Update
June 6 2022
Active Locations (1)
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1
Great Ormond Street Hospital
London, United Kingdom