Sporadic DystoniaNCT03572114
Imaging Neuromelanin and Iron in Dystonia/Parkinsonism
An observational study of Sporadic Dystonia and Dystonia, Familial, run by University College, London.
Trial summary
To generate pilot data to investigate the potential to use in vivo iron- and neuromelanin-quantification as imaging tools for the diagnostic evaluation of movement disorders with predominant dystonia / parkinsonism. Read more about this study
- Who is it for?
- Ages 18 to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Sporadic Dystonia, Dystonia, Familial, Parkinson Disease, Juvenile
- What is being tested?
- 3Tesla MRI, Burke-Fahn-Marsden Dystonia Rating scale and MDS-United Parkinsons Disease Rating Scale, Part III
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 80 participants
- Where
- No sites listed yet
- Study dates
- 1 Jul 2018to 1 Jul 2021
- 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 18 to 60 years
- All sexes
- Healthy volunteers accepted
- Adult
Study population: Patients from the National Hospital of Neurology, Queen Square, movement disorder outpatient clinic;
Who may be able to join
- clinical diagnosis of parkinsonism and/or dystonia due to
- dopa-responsive dystonia
- sporadic or inherited/genetic dystonia
- young-onset Parkinson's disease
- NBIA
- Mitochondrial disease
Show all 9Show fewer
- OR healthy controls
- 18 to 60 years of age
- able to give informed consent
Who cannot join
- Inability to tolerate 35min in an MRI machine
- Participated in a clinical drug trial up to 28 days before inclusion into the present study
- Contra-indications to 3T MRI on MRI safety grounds, such as presence of contra-indicated medical implants, as according to the established routine operating procedures for clinical MRI in the Lysholm Department of Neuroradiology at the National Hospital for Neurology and Neurosurgery.
Trial locations and contacts
No sites are listed yet.
About this study
To generate pilot data to investigate the potential to use in vivo iron- and neuromelanin-quantification as imaging tools for the diagnostic evaluation of movement disorders with predominant dystonia / parkinsonism. To this end we are planning to compare the MR imaging neuromelanin and iron-pattern and content in midbrain, striatum and further brain structures in clinically similar entities and respective, sex- and age-matched healthy controls.
Read the detailed description
Iron- or Neuromelanin-sensitive MR-imaging has not been consistently applied to the study of syndromes presenting with predominant dystonia/parkinsonism yet. We are planning to study the following groups, as they can often be very difficult to be distinguished from PD and in particular young-onset PD, on clinical grounds only:
- Dopa-responsive dystonia (DRD) can present similar to young-onset PD, but carries a completely different prognosis, necessitating different treatment requirements due to fundamentally different underlying physiology.
- Sporadic and Inherited dystonias (i.e. due to TorsinA (DYT1) and other gene mutations) often present with dystonia, particularly affecting the leg, which is clinically indistinguishable from young-onset PD.
- Young-onset PD, i.e. PD presenting with motor symptoms before 45 years of age, caused by a familiar gene mutation (PARKIN, Pink, DJ-1, PLA2G6, FBX07, ATP13A2, VPS13C, RAB39B, Lubag), often presents with predominant dystonia, particularly with leg-onset.
- NBIAs present with dystonia/parkinsonism: while basal ganglia iron accumulation is a known hallmark feature of the condition [3], the characteristics of neuromelanin regulation are unknown.
- Mitochondrial disease presenting with dystonia / parkinsonism (such as for example Leigh syndrome due to mutations in the Surf-1 gene or mutations m.3243A>G or POLG) [4]
- Respective age- and sex-matched healthy controls This study is designed to produce pilot data on these disease entities. By potentially accelerating the diagnostic process and identification of disease entities, neurologists might be able to deliver more selective and dedicated treatment.
Furthermore, combining Neuromelanin- and iron-specific imaging will offer the possibility to study the condition- specific dynamics of iron homeostasis in these rare conditions.
- Conditions
- Sporadic Dystonia, Dystonia, Familial, Parkinson Disease, Juvenile, Neurodegeneration With Brain Iron Accumulation 5, Mitochondrial Diseases
- Being tested
- 3Tesla MRI, Burke-Fahn-Marsden Dystonia Rating scale, MDS-United Parkinsons Disease Rating Scale, Part III, Beck Depression Inventory, MoCA: Montreal Cognitive Assessment:
- Medical subject headings
- Dystonic Disorders, Parkinsonian Disorders, Mitochondrial Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
3Tesla MRIDiagnostic test
- A previously validated multi-parameter mapping protocol sensitive to neuromelanin and iron content
- Iron mapping and micro-bleed detection: QSM (quantitative susceptibility mapping), a fully flow-compensated, susceptibility-weighted gradient-echo sequence (5 minutes).
- 1-mm isotropic anatomical MPRAGE (magnetization-prepared rapid gradient-echo)
- conventional FLAIR sequence
Burke-Fahn-Marsden Dystonia Rating scaleBehavioural
internationally standardized examination/quantification of dystonia
MDS-United Parkinsons Disease Rating Scale, Part IIIBehavioural
most recent, internationally standardized examination/quantification of bradykinesia / rigidity according to the Movement Disorder Society
Beck Depression InventoryBehavioural
internationally standardized examination to quantify traits of anxiety and depression
MoCA: Montreal Cognitive Assessment:Behavioural
internationally standardized examination to quantify cognition, frequently used in studies of dystonia and parkinsonism
| Study group | Role | What they receive |
|---|---|---|
| Sporadic Dystonia | 3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment Receives: Diagnostic Test: 3Tesla MRI; Behavioral: Burke-Fahn-Marsden Dystonia Rating scale; Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III; Behavioral: Beck Depression Inventory; Behavioral: MoCA: Montreal Cognitive Assessment: | |
| Familial Dystonia | 3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment Receives: Diagnostic Test: 3Tesla MRI; Behavioral: Burke-Fahn-Marsden Dystonia Rating scale; Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III; Behavioral: Beck Depression Inventory; Behavioral: MoCA: Montreal Cognitive Assessment: | |
| Parkinson´s disease, juvenile | 3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment Receives: Diagnostic Test: 3Tesla MRI; Behavioral: Burke-Fahn-Marsden Dystonia Rating scale; Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III; Behavioral: Beck Depression Inventory; Behavioral: MoCA: Montreal Cognitive Assessment: | |
| Neurodegeneration with brain iron acc. | 3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment Receives: Diagnostic Test: 3Tesla MRI; Behavioral: Burke-Fahn-Marsden Dystonia Rating scale; Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III; Behavioral: Beck Depression Inventory; Behavioral: MoCA: Montreal Cognitive Assessment: | |
| mitochondrial disease | 3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment Receives: Diagnostic Test: 3Tesla MRI; Behavioral: Burke-Fahn-Marsden Dystonia Rating scale; Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III; Behavioral: Beck Depression Inventory; Behavioral: MoCA: Montreal Cognitive Assessment: | |
| Healthy Controls | 3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment Receives: Diagnostic Test: 3Tesla MRI; Behavioral: Burke-Fahn-Marsden Dystonia Rating scale; Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III; Behavioral: Beck Depression Inventory; Behavioral: MoCA: Montreal Cognitive Assessment: |
What is being measured
The primary outcome is the main question the study is designed to answer.
neuromelanin content
absolute amount of neuromelanin in midbrain, striatum and other areas of the brain
Measured: up to 8 weeks
Secondary outcomes (3)
neuromelanin association
correlate neuromelanin quantification with demographic and clinical details
Measured: up to 8 weeks
iron association
correlate neuromelanin quantification with demographic and clinical details
Measured: up to 8 weeks
Iron content
absolute amount of iron in midbrain, striatum and other areas of the brain
Measured: up to 8 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jun 2018
- Study start1 Jul 2018 (estimated)
- Primary completion1 Jul 2021 (estimated)
- Study completion1 Jul 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sporadic DystoniaStudies of the same condition, open and under way.
- More trials run by University College, LondonThe sponsor's other registered studies.
- 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University College, London
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Bhatia P Kailash, MD, DM, FRCP, Principal investigator, UCL, Institute of Neurology, Sobell Department
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03572114
- Sponsor's protocol ID
- 18/0075
- Other IDs
- IRAS ID 243171
- Status last verified
- Jun 2018
- First submitted
- 8 Feb 2018
- Last updated
- 28 Jun 2018
- Results posted
- No
- Data monitoring committee
- No
- 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 28 Jun 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Imaging Neuromelanin and Iron in Dystonia/Parkinsonism
- ClinicalTrials.gov ID
- NCT03572114
- Acronym / sponsor ID
- 18/0075
- Conditions
- Sporadic Dystonia, Dystonia, Familial, Parkinson Disease, Juvenile, Neurodegeneration With Brain Iron Accumulation 5, Mitochondrial Diseases
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- University College, LondonUniversity, hospital or other
- Study start
- 1 Jul 2018 (estimated)
- Primary completion
- 1 Jul 2021 (estimated)
- Study completion
- 1 Jul 2021 (estimated)
- First posted
- 28 Jun 2018 (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.
To generate pilot data to investigate the potential to use in vivo iron- and neuromelanin-quantification as imaging tools for the diagnostic evaluation of movement disorders with predominant dystonia / parkinsonism. To this end we are planning to compare the MR imaging neuromelanin and iron-pattern and content in midbrain, striatum and further brain structures in clinically similar entities and respective, sex- and age-matched healthy controls.
Detailed description
Iron- or Neuromelanin-sensitive MR-imaging has not been consistently applied to the study of syndromes presenting with predominant dystonia/parkinsonism yet. We are planning to study the following groups, as they can often be very difficult to be distinguished from PD and in particular young-onset PD, on clinical grounds only:
- Dopa-responsive dystonia (DRD) can present similar to young-onset PD, but carries a completely different prognosis, necessitating different treatment requirements due to fundamentally different underlying physiology.
- Sporadic and Inherited dystonias (i.e. due to TorsinA (DYT1) and other gene mutations) often present with dystonia, particularly affecting the leg, which is clinically indistinguishable from young-onset PD.
- Young-onset PD, i.e. PD presenting with motor symptoms before 45 years of age, caused by a familiar gene mutation (PARKIN, Pink, DJ-1, PLA2G6, FBX07, ATP13A2, VPS13C, RAB39B, Lubag), often presents with predominant dystonia, particularly with leg-onset.
- NBIAs present with dystonia/parkinsonism: while basal ganglia iron accumulation is a known hallmark feature of the condition [3], the characteristics of neuromelanin regulation are unknown.
- Mitochondrial disease presenting with dystonia / parkinsonism (such as for example Leigh syndrome due to mutations in the Surf-1 gene or mutations m.3243A>G or POLG) [4]
- Respective age- and sex-matched healthy controls This study is designed to produce pilot data on these disease entities. By potentially accelerating the diagnostic process and identification of disease entities, neurologists might be able to deliver more selective and dedicated treatment.
Furthermore, combining Neuromelanin- and iron-specific imaging will offer the possibility to study the condition- specific dynamics of iron homeostasis in these rare conditions.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| Sporadic Dystonia | – | Diagnostic Test: 3Tesla MRI, Behavioral: Burke-Fahn-Marsden Dystonia Rating scale, Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III, Behavioral: Beck Depression Inventory, Behavioral: MoCA: Montreal Cognitive Assessment:3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment |
| Familial Dystonia | – | Diagnostic Test: 3Tesla MRI, Behavioral: Burke-Fahn-Marsden Dystonia Rating scale, Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III, Behavioral: Beck Depression Inventory, Behavioral: MoCA: Montreal Cognitive Assessment:3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment |
| Parkinson´s disease, juvenile | – | Diagnostic Test: 3Tesla MRI, Behavioral: Burke-Fahn-Marsden Dystonia Rating scale, Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III, Behavioral: Beck Depression Inventory, Behavioral: MoCA: Montreal Cognitive Assessment:3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment |
| Neurodegeneration with brain iron acc. | – | Diagnostic Test: 3Tesla MRI, Behavioral: Burke-Fahn-Marsden Dystonia Rating scale, Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III, Behavioral: Beck Depression Inventory, Behavioral: MoCA: Montreal Cognitive Assessment:3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment |
| mitochondrial disease | – | Diagnostic Test: 3Tesla MRI, Behavioral: Burke-Fahn-Marsden Dystonia Rating scale, Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III, Behavioral: Beck Depression Inventory, Behavioral: MoCA: Montreal Cognitive Assessment:3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment |
| Healthy Controls | – | Diagnostic Test: 3Tesla MRI, Behavioral: Burke-Fahn-Marsden Dystonia Rating scale, Behavioral: MDS-United Parkinsons Disease Rating Scale, Part III, Behavioral: Beck Depression Inventory, Behavioral: MoCA: Montreal Cognitive Assessment:3 Tesla MRI Burke-Fahn-Marsden Dystonia Rating scale MDS-United Parkinsons Disease Rating Scale, Part III Beck Depression Inventory MoCA: Montreal Cognitive Assessment |
Who may qualify
- Ages
- 18 to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- Patients from the National Hospital of Neurology, Queen Square, movement disorder outpatient clinic;
Key inclusion criteria (9 listed)
- clinical diagnosis of parkinsonism and/or dystonia due to
- dopa-responsive dystonia
- sporadic or inherited/genetic dystonia
- young-onset Parkinson's disease
- NBIA
Key exclusion criteria (3 listed)
- Inability to tolerate 35min in an MRI machine
- Participated in a clinical drug trial up to 28 days before inclusion into the present study
- Contra-indications to 3T MRI on MRI safety grounds, such as presence of contra-indicated medical implants, as according to the established routine operating procedures for clinical MRI in the Lysholm Department of Neuroradiology at the National Hospital for Neurology and Neurosurgery.
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 |
|---|---|---|
| 3Tesla MRI1. A previously validated multi-parameter mapping protocol sensitive to neuromelanin and iron content 2. Iron mapping and micro-bleed detection: QSM (quantitative susceptibility mapping), a fully flow-compensated, susceptibility-weighted gradient-echo sequence (5 minutes). 3. 1-mm isotropic anatomical MPRAGE (magnetization-prepared rapid gradient-echo) 4. conventional FLAIR sequence | Diagnostic test | Familial Dystonia, Healthy Controls, Neurodegeneration with brain iron acc., Parkinson´s disease, juvenile, Sporadic Dystonia, mitochondrial disease |
| Burke-Fahn-Marsden Dystonia Rating scaleinternationally standardized examination/quantification of dystonia | Behavioural | Familial Dystonia, Healthy Controls, Neurodegeneration with brain iron acc., Parkinson´s disease, juvenile, Sporadic Dystonia, mitochondrial disease |
| MDS-United Parkinsons Disease Rating Scale, Part IIImost recent, internationally standardized examination/quantification of bradykinesia / rigidity according to the Movement Disorder Society | Behavioural | Familial Dystonia, Healthy Controls, Neurodegeneration with brain iron acc., Parkinson´s disease, juvenile, Sporadic Dystonia, mitochondrial disease |
| Beck Depression Inventoryinternationally standardized examination to quantify traits of anxiety and depression | Behavioural | Familial Dystonia, Healthy Controls, Neurodegeneration with brain iron acc., Parkinson´s disease, juvenile, Sporadic Dystonia, mitochondrial disease |
| MoCA: Montreal Cognitive Assessment:internationally standardized examination to quantify cognition, frequently used in studies of dystonia and parkinsonism | Behavioural | Familial Dystonia, Healthy Controls, Neurodegeneration with brain iron acc., Parkinson´s disease, juvenile, Sporadic Dystonia, mitochondrial disease |
Primary outcome
neuromelanin content
Time frame: up to 8 weeks
absolute amount of neuromelanin in midbrain, striatum and other areas of the brain
3 secondary outcomes
neuromelanin association
Time frame: up to 8 weeks
iron association
Time frame: up to 8 weeks
Iron content
Time frame: up to 8 weeks
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jun 2018.
- Individual participant dataSharing planned: No
Related trials for Sporadic Dystonia
RecruitingObservational study
Dystonia Genotype-Phenotype Correlation
Dystonia, Dystonia; Idiopathic
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.
Bhatia P Kailash, MD, DM, FRCP principal investigator
UCL, Institute of Neurology, Sobell Department
Questions about this trial
What is this clinical trial studying?
An observational study of Sporadic Dystonia and Dystonia, Familial, run by University College, London.
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 9 inclusion and 3 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 28 Jun 2018. Status can change between updates, so confirm with the study contact before making plans.
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 Sebastian R Schreglmann, MD (0203448 8604, skgtsrs@ucl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
neuromelanin content (time frame: up to 8 weeks). 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 28 Jun 2018.