Movement DisorderNextGen-SENCT02588638
Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
An observational study of Movement Disorder and Cognitive Decline, run by University Hospital Tuebingen at 1 site in Germany.
Trial summary
In the study, NextGen SE are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions : Primary: Number of diagnoses made by NGS Secondary: 1. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Movement Disorder, Cognitive Decline
- How many people
- 100 participants
- Where
- 1 siteGermany
- Study dates
- Dec 2015to Sep 2023
- How long will I take part?
- 1 Day
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with unclear diagnoses
Who may be able to join
- For patients> 18 years
- Unclear movement disorder
- o Progressive ataxia after minimal exclusion diagnostics: magnetic resonance tomography (MRT) (structural lesions such as cerebellar tumor, malformation) Laboratory (Vitamin B12, thyroid peroxidase (TPO) antibodies, glutamate decarboxylase (GAD) II-antibodies (AK) In medullary lesions: Liquor exclusion Friedreich ataxia (FRDA) and spinocerebellar ataxia type (SCA)1-2-3-6
- o Progressive para-spasticity by minimal exclusion diagnostics: MRT neuro axis (structural lesions such as cervical myelopathy) Laboratory (Vitamin B12, human T-cell lymphotrophic virus ((HTLV)-AK) In medullary lesions: Liquor
- Unclear cognitive decline o After minimal exclusion diagnosis MRT (intracranial pressure, focal brain lesions explanatory) laboratory (Thyroid-stimulating hormone (TSH), TPO-AK, antibody profile limbic encephalitis) Liquor (inflammation, meningitis) Electroencephalography (EEG) (Status) Exclusion chromosome 9 open reading frame 72 (C9orf72)
- For patients <18 years Patients with (penetrating) suspected cerebral neurogenetic diseases
Show all 9Show fewer
- Unclear movement disorder (spasticity, ataxia, dyskinesia)
- Unclear cognitive disorder with probability of monogenic origin
- Fragile X Syndrome (Fra-X) at mentally retarded boy, Friedreich ataxia (FRDA) with ataxia should be genetically excluded
Who cannot join
- For patients > 18 years
- Lack of consent
- symptom onset > 40 years of age
- Sudden, abrupt beginning
- As early as previous history of genetic diagnosis using next-generation sequencing (NGS), also in the form of a panel
- For patients <18 years
Show all 15Show fewer
- injury brain disorders
- On the basis of imaging
- On the basis of medical history (premature baby, hypoxic-ischemic encephalopathy)
- Inflammatory brain disorders
- On the basis of imaging
- On the basis of laboratory parameters (Oligoclonal fractions, cerebrospinal fluid (CSF) cell count increased)
- Light, isolated mental developmental disorder or behavioral disorder (rare monogenetic) - (less than 2 standard deviartion of normal or - < 6 year olds - less than 1 year in development history back)
- Sudden , abrupt beginning
- Next-generation sequencing (NGS) also in the form of a panel
Trial locations and contacts
1 site in 1 country.
Germany1 site, 1 recruiting
- Recruiting
University Hospital
Tübingen, Baden-Wurttemberg, 72076
Ludger Schöls, Prof. Dr., +49 7071 29 80445, ludger.schoels@uni-tuebingen.de
Janine Magg, Dr., +49 7071 29 80445, janine.magg@med.uni-tuebingen.de
About this study
In the study, NextGen SE are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions :
Primary:
- Number of diagnoses made by NGS
Secondary:
- restriction of the quality of life by unclear disease
- Cost of not purposeful preliminary diagnostics ( beyond the minimal diagnostic data set )
- Impact of the diagnosis to therapy and follow-up examinations
- Time to diagnosis
Read the detailed description
In the study NextGen SE (single-center, prospective, open diagnostic study) are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions:
Primary:
- Number of diagnoses made by next-generation sequencing (NGS)
Secondary:
- Restriction of the quality of life by unclear disease
- Cost of not purposeful preliminary diagnostics (beyond the minimal diagnostic data of the diagnosis to therapy and follow-up examinations
- Time to diagnosis
- Conditions
- Movement Disorder, Cognitive Decline
- Keywords
- NGS, Quality of life, Diagnosis, Rare disease, Next-generation sequencing
- Medical subject headings
- Movement Disorders, Cognitive Dysfunction, Disease, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Adult patients | Unclear movement disorder, unclear cognitive decline | |
| Patients < 18 years | Patients with (penetrating) suspected cerebral neurogenetic diseases |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of diagnoses made by next gereration sequency (NGS)
Measured: Within the study period of 18 months
Secondary outcomes (3)
Restriction of the quality of life by unclear disease measured rated by Quality of Life Questionnaire (EQ5D), Depression Questionnaire (PHQ)
EQ-5D: Calculation preference value PHQ: Categorical analysis carried out by modified evaluation algorithms of the Diagnostic and Statistical Manual of Mental Disorders (DSM) -IV B
Measured: At day 1
Cost of not purposeful preliminary diagnostics rated by questionnaire on costs (number of outpatient performances, stationary investigations, repetition 's imaging, genetic single diagnostics, high-priced diagnostic
Measured: At day 1
Time to diagnosis
For patients whose diagnosis can be made by NGS
Measured: At day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Oct 2015 (estimated)
- Study startDec 2015
- Primary completionJun 2022 (estimated)
- Study completionSep 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Movement DisorderStudies 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
- Other
- Time perspective
- Other
- Enrolment
- 100 participants (estimated)
- Target duration
- 1 Day
Sponsor and investigators
- Lead sponsor
- University Hospital Tuebingen
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Prof. Dr. Ludger Schöls, University Hospital Tuebingen
- Investigators
- Ludger Schöls, Prof. Dr., Principal investigator, University Hospital Tuebingen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02588638
- Sponsor's protocol ID
- NextGen-SE
- Acronym
- NextGen-SE
- Status last verified
- Nov 2020
- First submitted
- 15 Oct 2015
- Last updated
- 13 Nov 2020
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Nov 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
- ClinicalTrials.gov ID
- NCT02588638
- Acronym / sponsor ID
- NextGen-SE / NextGen-SE
- Conditions
- Movement Disorder, Cognitive Decline
- Keywords
- NGS, Quality of life, Diagnosis, Rare disease, Next-generation sequencing
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Hospital TuebingenUniversity, hospital or other
- Study start
- Dec 2015 (actual)
- Primary completion
- Jun 2022 (estimated)
- Study completion
- Sep 2023 (estimated)
- First posted
- 28 Oct 2015 (estimated)
- 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.
In the study, NextGen SE are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions :
Primary:
- Number of diagnoses made by NGS
Secondary:
- restriction of the quality of life by unclear disease
- Cost of not purposeful preliminary diagnostics ( beyond the minimal diagnostic data set )
- Impact of the diagnosis to therapy and follow-up examinations
- Time to diagnosis
Detailed description
In the study NextGen SE (single-center, prospective, open diagnostic study) are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions:
Primary:
- Number of diagnoses made by next-generation sequencing (NGS)
Secondary:
- Restriction of the quality of life by unclear disease
- Cost of not purposeful preliminary diagnostics (beyond the minimal diagnostic data of the diagnosis to therapy and follow-up examinations
- Time to diagnosis
Study design
- Observational model
- Other
- Time perspective
- Other
- Target follow-up
- 1 Day
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Adult patients | – | –Unclear movement disorder, unclear cognitive decline |
| Patients < 18 years | – | –Patients with (penetrating) suspected cerebral neurogenetic diseases |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with unclear diagnoses
Key inclusion criteria (9 listed)
- For patients> 18 years
- Unclear movement disorder
- o Progressive ataxia after minimal exclusion diagnostics: magnetic resonance tomography (MRT) (structural lesions such as cerebellar tumor, malformation) Laboratory (Vitamin B12, thyroid peroxidase (TPO) antibodies, glutamate decarboxylase (GAD) II-antibodies (AK) In medullary lesions: Liquor exclusion Friedreich ataxia (FRDA) and spinocerebellar ataxia type (SCA)1-2-3-6
- o Progressive para-spasticity by minimal exclusion diagnostics: MRT neuro axis (structural lesions such as cervical myelopathy) Laboratory (Vitamin B12, human T-cell lymphotrophic virus ((HTLV)-AK) In medullary lesions: Liquor
- Unclear cognitive decline o After minimal exclusion diagnosis MRT (intracranial pressure, focal brain lesions explanatory) laboratory (Thyroid-stimulating hormone (TSH), TPO-AK, antibody profile limbic encephalitis) Liquor (inflammation, meningitis) Electroencephalography (EEG) (Status) Exclusion chromosome 9 open reading frame 72 (C9orf72)
Key exclusion criteria (15 listed)
- For patients > 18 years
- Lack of consent
- symptom onset > 40 years of age
- Sudden, abrupt beginning
- As early as previous history of genetic diagnosis using next-generation sequencing (NGS), also in the form of a panel
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of diagnoses made by next gereration sequency (NGS)
Time frame: Within the study period of 18 months
3 secondary outcomes
Restriction of the quality of life by unclear disease measured rated by Quality of Life Questionnaire (EQ5D), Depression Questionnaire (PHQ)
Time frame: At day 1
Cost of not purposeful preliminary diagnostics rated by questionnaire on costs (number of outpatient performances, stationary investigations, repetition 's imaging, genetic single diagnostics, high-priced diagnostic
Time frame: At day 1
Time to diagnosis
Time frame: At day 1
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Nov 2020.
Related trials for Movement Disorder
Not yet recruiting
The AYA Oncology Self-care Movement
Acute Lymphobkastic Leukemia, Medication Adherence
Recruiting
Automated Language Analysis in Neurodegenerative Diseases: Application of Artificial Intelligence Models
Alzheimer's Disease (AD), Frontotemporal Dementia (FTD)
Recruiting
Investigating Basal Ganglia-Cortical Physiology During Sleep and Its Modulation by Adaptive Deep Brain Stimulation in Parkinson Disease
Parkinson's Disease (PD)
Not yet recruiting
Cognitive-Motor Training for Gait Adaptability in Parkinson Disease
Parkinson Disease
Recruiting
OCT-Angiography and Adaptive Optics in Patients With Memory Impairment
Amnesia, Alzheimer Disease
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.
Ludger Schöls, Prof. Dr. principal investigator
University Hospital Tuebingen
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 Movement Disorder and Cognitive Decline, run by University Hospital Tuebingen at 1 site in Germany.
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 15 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 13 Nov 2020. 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 Germany. 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 Ludger Schöls, Prof. Dr. (+49 7071 29-80445, ludger.schoels@uni-tuebingen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of diagnoses made by next gereration sequency (NGS) (time frame: Within the study period of 18 months). 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 13 Nov 2020.