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Natural History Study of ATP1A3-related Disease

NCT03857607 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2022-06-06

No results posted yet for this study

Summary

An observational study aiming to study the natural history of a UK-wide patient cohort with ATP1A3-related disease.

Conditions

  • ATP1A3-related Disease
  • Alternating Hemiplegia of Childhood
  • Rapid Onset Dystonia Parkinsonism
  • CAPOS

Interventions

GENETIC

Whole exome sequencing

Whole exome sequencing will be used to identify causative genes in ATP1A3 mutation negative patients, to confirm causality in ambiguous phenotypes and to identify modifier genes.

Sponsors & Collaborators

  • Great Ormond Street Hospital for Children NHS Foundation Trust

    collaborator OTHER

  • University College, London

    collaborator OTHER

  • Institute of Child Health

    lead OTHER

Principal Investigators

  • Helen Cross, PhD · UCL Institute of Child Health

Eligibility

Min Age
6 Months
Max Age
60 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-09-01
Primary Completion
2022-12-31
Completion
2023-08-31

Countries

  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03857607 on ClinicalTrials.gov