Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases

Cognitive Decline Clinical Trial

— NextGen-SE  

Official title:

Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02588638
• Other study ID #: NextGen-SE
• Status: Recruiting
• Start date: December 2015
• Est. completion date: September 2023

Study information

• Verified date: November 2020
• Source: University Hospital Tuebingen
• Contact: Ludger Schöls, Prof. Dr.
• Phone: +49 7071 29-80445
• Email: ludger.schoels[@]uni-tuebingen.de
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical 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. restriction of the quality of life by unclear disease

2. Cost of not purposeful preliminary diagnostics ( beyond the minimal diagnostic data set )

3. Impact of the diagnosis to therapy and follow-up examinations

4. Time to diagnosis

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:

1. Restriction of the quality of life by unclear disease

2. Cost of not purposeful preliminary diagnostics (beyond the minimal diagnostic data of the diagnosis to therapy and follow-up examinations

3. Time to diagnosis

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: September 2023
• Est. primary completion date: June 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

For patients> 18 years

1. 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

2. 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

• 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

Exclusion Criteria:

For patients > 18 years

1. Lack of consent

2. symptom onset > 40 years of age

3. Sudden, abrupt beginning

4. As early as previous history of genetic diagnosis using next-generation sequencing (NGS), also in the form of a panel

For patients <18 years

1. injury brain disorders

• On the basis of imaging

• On the basis of medical history (premature baby, hypoxic-ischemic encephalopathy)

2. Inflammatory brain disorders

• On the basis of imaging

• On the basis of laboratory parameters (Oligoclonal fractions, cerebrospinal fluid (CSF) cell count increased)

3. 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)

4. Sudden , abrupt beginning

5. Next-generation sequencing (NGS) also in the form of a panel

Related Conditions & MeSH terms

• Cognitive Decline
• Cognitive Dysfunction
• Movement Disorder
• Movement Disorders
• Rare Diseases

Locations

Country	Name	City	State
Germany	University Hospital	Tubingen	Baden-Württemberg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital Tuebingen

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of diagnoses made by next gereration sequency (NGS)		Within the study period of 18 months
Secondary	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	At day 1
Secondary	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		At day 1
Secondary	Time to diagnosis	For patients whose diagnosis can be made by NGS	At day 1