ATP1A3-related DiseaseNCT03857607
Natural History Study of ATP1A3-related Disease
An observational study of ATP1A3-related Disease and Alternating Hemiplegia of Childhood, run by Institute of Child Health at 1 site in United Kingdom.
Trial summary
An observational study aiming to study the natural history of a UK-wide patient cohort with ATP1A3-related disease. Read more about this study
- Who is it for?
- Ages 6 months to 60 years
- Conditions the study is for
- ATP1A3-related Disease, Alternating Hemiplegia of Childhood, Rapid Onset Dystonia Parkinsonism
- What is being tested?
- Whole exome sequencing
- How many people
- 100 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 1 Sep 2018to 31 Aug 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: UK-wide cohort of patients carrying an ATP1A3-mutation or diagnosed with a phenotype associated with ATP1A3-related disease.
Who may be able to join
- 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.
Who cannot join
- Patients with a phenotype not fitting ATP1A3-related disease and no mutation in the ATP1A3 gene.
Trial locations and contacts
1 site in 1 country.
Helen Cross, PhD contact
United Kingdom1 site, 1 recruiting
- Recruiting
Great Ormond Street Hospital
London
Aikaterini Vezyroglou, MD, k.vezyroglou@ucl.ac.uk
About this study
Official title: Natural History of ATP1A3-related Disease: a Deep Phenotyping-genotyping Project
An observational study aiming to study the natural history of a UK-wide patient cohort with ATP1A3-related disease.
Read the 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 hemiplegia (weakness), dystonia (painful stiffening), oculomotor abnormalities and epileptic seizures. As the condition progresses permanent neurological symptoms, including unsteadiness and learning problems, emerge. Mutations in ATP1A3 also cause other related syndromes: rapid-onset dystonia-parkinsonism (RDP), less severe and usually presenting in adulthood, as well as cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome, a severe syndrome of early childhood.
Currently therapeutic options are very limited aiming at symptomatic relief with limited success. As ATP1A3-related syndromes are very rare diseases, with an estimated prevalence of about 1/1000000, randomised clinical trials of available therapies are not possible due to lack of a large enough patient cohort. However, the revolution in genetic diagnostics has made the identification of these patients and the correlation between their phenotypes possible. At the same time further novel technologies in neuromonitoring and neuroimaging, as well as videography and sleep monitoring have become available that could help us further examine and understand the underlying mechanisms especially of the paroxysmal episodes that characterise all ATP1A3-related syndromes. The investigators believe that based on these scientific advances they will be able to recruit a UK-wide patient cohort to conduct an in depth study of the progression of this disease.
This is particularly relevant at the moment as rapid progress in genetic therapies and other novel therapeutics makes the availability of new treatment options in the near future a realistic prospect and, even though we will most probably still not be able to identify a large enough cohort for randomised clinical trials, our natural history study will act as a much needed benchmark to which the success of novel treatments can be evaluated.
- Conditions
- ATP1A3-related Disease, Alternating Hemiplegia of Childhood, Rapid Onset Dystonia Parkinsonism, CAPOS
- Being tested
- Whole exome sequencing
- Medical subject headings
- Alternating hemiplegia of childhood, Dystonia 12, CAPOS syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Disease progression
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2019
- Study start1 Sep 2018
- Primary completion31 Dec 2022 (estimated)
- Study completion31 Aug 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for ATP1A3-related DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Institute of Child Health
- Sponsor type
- University, hospital or other
- Collaborators
- Great Ormond Street Hospital for Children NHS Foundation Trust, University College, London
- Responsible party
- Sponsor
- Investigators
- Helen Cross, PhD, Principal investigator, UCL Institute of Child Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03857607
- Sponsor's protocol ID
- 17NC04
- Status last verified
- Jun 2022
- First submitted
- 26 Feb 2019
- Last updated
- 6 Jun 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Jun 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of ATP1A3-related Disease: a Deep Phenotyping-genotyping Project
- ClinicalTrials.gov ID
- NCT03857607
- Acronym / sponsor ID
- 17NC04
- Conditions
- ATP1A3-related Disease, Alternating Hemiplegia of Childhood, Rapid Onset Dystonia Parkinsonism, CAPOS
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Institute of Child HealthUniversity, hospital or other
- Collaborators
- Great Ormond Street Hospital for Children NHS Foundation Trust, University College, London
- Study start
- 1 Sep 2018 (actual)
- Primary completion
- 31 Dec 2022 (estimated)
- Study completion
- 31 Aug 2023 (estimated)
- First posted
- 28 Feb 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 hemiplegia (weakness), dystonia (painful stiffening), oculomotor abnormalities and epileptic seizures. As the condition progresses permanent neurological symptoms, including unsteadiness and learning problems, emerge. Mutations in ATP1A3 also cause other related syndromes: rapid-onset dystonia-parkinsonism (RDP), less severe and usually presenting in adulthood, as well as cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome, a severe syndrome of early childhood.
Currently therapeutic options are very limited aiming at symptomatic relief with limited success. As ATP1A3-related syndromes are very rare diseases, with an estimated prevalence of about 1/1000000, randomised clinical trials of available therapies are not possible due to lack of a large enough patient cohort. However, the revolution in genetic diagnostics has made the identification of these patients and the correlation between their phenotypes possible. At the same time further novel technologies in neuromonitoring and neuroimaging, as well as videography and sleep monitoring have become available that could help us further examine and understand the underlying mechanisms especially of the paroxysmal episodes that characterise all ATP1A3-related syndromes. The investigators believe that based on these scientific advances they will be able to recruit a UK-wide patient cohort to conduct an in depth study of the progression of this disease.
This is particularly relevant at the moment as rapid progress in genetic therapies and other novel therapeutics makes the availability of new treatment options in the near future a realistic prospect and, even though we will most probably still not be able to identify a large enough cohort for randomised clinical trials, our natural history study will act as a much needed benchmark to which the success of novel treatments can be evaluated.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 months to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- UK-wide cohort of patients carrying an ATP1A3-mutation or diagnosed with a phenotype associated with ATP1A3-related disease.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- Patients with a phenotype not fitting ATP1A3-related disease and no mutation in the ATP1A3 gene.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole exome sequencingWhole 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. | Genetic | – |
Primary outcome
Disease progression
Time frame: 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Jun 2022.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Helen Cross, PhD contact
Helen Cross, PhD principal investigator
UCL Institute of Child Health
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of ATP1A3-related Disease and Alternating Hemiplegia of Childhood, run by Institute of Child Health at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 6 Jun 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Katerina Vezyroglou, MD (+44(0)20 7905 2980, k.vezyroglou@ucl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease progression (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Jun 2022.