NCT03857607

Brief Summary

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

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
100

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Sep 2018

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 1, 2018

Completed
6 months until next milestone

First Submitted

Initial submission to the registry

February 26, 2019

Completed
2 days until next milestone

First Posted

Study publicly available on registry

February 28, 2019

Completed
3.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2022

Completed
8 months until next milestone

Study Completion

Last participant's last visit for all outcomes

August 31, 2023

Completed
Last Updated

June 6, 2022

Status Verified

June 1, 2022

Enrollment Period

4.3 years

First QC Date

February 26, 2019

Last Update Submit

June 1, 2022

Conditions

ATP1A3-related DiseaseAlternating Hemiplegia of ChildhoodRapid Onset Dystonia ParkinsonismCAPOS

Outcome Measures

Primary Outcomes (1)

  • Disease progression

    1 year

Interventions

Whole exome sequencingGENETIC

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.

Eligibility Criteria

Age6 Months - 60 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

UK-wide cohort of patients carrying an ATP1A3-mutation or diagnosed with a phenotype associated with ATP1A3-related disease.

You may qualify if:

  • 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.

You may not qualify if:

  • Patients with a phenotype not fitting ATP1A3-related disease and no mutation in the ATP1A3 gene.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Great Ormond Street Hospital

London, United Kingdom

RECRUITING

MeSH Terms

Conditions

Alternating hemiplegia of childhoodDystonia 12CAPOS syndrome

Interventions

Exome Sequencing

Intervention Hierarchy (Ancestors)

Whole Genome SequencingSequence Analysis, DNASequence AnalysisGenetic TechniquesInvestigative Techniques

Study Officials

  • Helen Cross, PhD

    UCL Institute of Child Health

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Katerina Vezyroglou, MD

CONTACT

+44(0)20 7905 2980k.vezyroglou@ucl.ac.uk

Helen Cross, PhD

CONTACT

h.cross@ucl.ac.uk

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 26, 2019

First Posted

February 28, 2019

Study Start

September 1, 2018

Primary Completion

December 31, 2022

Study Completion

August 31, 2023

Last Updated

June 6, 2022

Record last verified: 2022-06

Data Sharing

IPD Sharing
Will not share

Locations

GB(1)