Status unknownNCT03572114Updated Jun 28, 2018

Imaging Neuromelanin and Iron in Dystonia/Parkinsonism

An observational study in Sporadic Dystonia, Dystonia, Familial and Parkinson Disease, Juvenile, sponsored by University College, London. Status unknown. Open to participants aged 18 Years to 60 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2018-06-28.

Sponsored by University College, London · Observational

The sponsor has not verified this record recently (last verified Jun 2018), so the status shown — last known as Not yet recruiting — may be out of date.

Study type: Observational
Model: Case-control
Time perspective: Cross-sectional
Enrollment: 80
Ages: 18 Years to 60 Years
Sex: All

Study 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. 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 studied

Sporadic Dystonia
Dystonia, Familial
Parkinson Disease, Juvenile
Neurodegeneration With Brain Iron Accumulation 5
Mitochondrial Diseases

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In context

Parkinson Disease

4,487 studies on the registry are indexed under Parkinson Disease; 1,082 are open to participants now.

This study's planned enrollment of 80 is below the median of 96 across 1,057 observational studies indexed under Parkinson Disease.

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Lead sponsor

University College, London is the lead sponsor of 632 studies on the registry; 145 are open to participants now.

Of its 6 completed or terminated interventional studies of FDA-regulated products, 2 (33%) have results posted.

Counted across the registry records on this site, refreshed daily.

Who can participate

Ages eligible: 18 Years to 60 Years
Sexes eligible: All
Accepts healthy volunteers: Yes
Sampling method: Non-probability sample

Study population

Patients from the National Hospital of Neurology, Queen Square, movement disorder outpatient clinic;

Inclusion criteria

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
- OR healthy controls
- 18 to 60 years of age
- able to give informed consent

Exclusion criteria

Exclusion Criteria:

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.

Study design

Observational model: Case-control
Time perspective: Cross-sectional
Enrollment: 80 participants (estimated)
Patient registry: No

Groups and cohorts

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
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
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
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
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
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
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:

Interventions

Diagnostic test3Tesla MRI
1. 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
BehavioralBurke-Fahn-Marsden Dystonia Rating scale
internationally standardized examination/quantification of dystonia
BehavioralMDS-United Parkinsons Disease Rating Scale, Part III
most recent, internationally standardized examination/quantification of bradykinesia / rigidity according to the Movement Disorder Society
BehavioralBeck Depression Inventory
internationally standardized examination to quantify traits of anxiety and depression
BehavioralMoCA: Montreal Cognitive Assessment:
internationally standardized examination to quantify cognition, frequently used in studies of dystonia and parkinsonism

What researchers measure

Primary outcomes

neuromelanin content
absolute amount of neuromelanin in midbrain, striatum and other areas of the brain
Time frame: up to 8 weeks

Secondary outcomes

neuromelanin association
correlate neuromelanin quantification with demographic and clinical details
Time frame: up to 8 weeks
iron association
correlate neuromelanin quantification with demographic and clinical details
Time frame: up to 8 weeks
Iron content
absolute amount of iron in midbrain, striatum and other areas of the brain
Time frame: up to 8 weeks

Study locations

No study locations are listed for this record.

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

Updates

Tracking since Sep 25, 2026

No changes since tracking began. The registry record was last updated on Jun 28, 2018, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗

Registry details

Key details

Study ID: NCT03572114
Lead sponsor: University College, London
Responsible party: Sponsor
First posted: Jun 28, 2018
Start date: Jul 1, 2018 (estimated)
Primary completion: Jul 1, 2021 (estimated)
Completion: Jul 1, 2021 (estimated)
Last update: Jun 28, 2018

Study contacts

Sebastian R Schreglmann, MD

Contact

skgtsrs@ucl.ac.uk

0203448 8604

Bhatia P Kailash, MD, DM, FRCP

Contact

k.bhatia@ucl.ac.uk

0203448 4252

Bhatia P Kailash, MD, DM, FRCP

principal investigator · UCL, Institute of Neurology, Sobell Department

Oversight

Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No

View the source record on ClinicalTrials.gov ↗

Not currently enrolling

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