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

NCT02588638 | Unknown

• 1 other identifier: NextGen-SE
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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:

1. 1.restriction of the quality of life by unclear disease
2. 2.Cost of not purposeful preliminary diagnostics ( beyond the minimal diagnostic data set )
3. 3.Impact of the diagnosis to therapy and follow-up examinations
4. 4.Time to diagnosis

Conditions

Movement Disorder; Cognitive Decline

Keywords

NGS; Quality of life; Diagnosis; Rare disease; Next-generation sequencing

Outcome Measures

Primary Outcomes (1)

• Number of diagnoses made by next gereration sequency (NGS)

  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)

  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

  At day 1

• Time to diagnosis

  At day 1

Study Arms (2)

Adult patients

Unclear movement disorder, unclear cognitive decline

Patients < 18 years

Patients with (penetrating) suspected cerebral neurogenetic diseases

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with unclear diagnoses

You may qualify if:

• For patients\> 18 years
• Unclear movement disorder
• 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

You may not qualify if:

• 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
• 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

Sponsors & Collaborators

• University Hospital Tuebingen: lead

Study Sites (1)

University Hospital

Tübingen, Baden-Wurttemberg, 72076, Germany

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample

MeSH Terms

Conditions

Movement Disorders; Cognitive Dysfunction; Disease; Rare Diseases

Condition Hierarchy (Ancestors)

Central Nervous System Diseases; Nervous System Diseases; Cognition Disorders; Neurocognitive Disorders; Mental Disorders; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Disease Attributes

Study Officials

• Ludger Schöls, Prof. Dr.

  University Hospital Tübingen

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ludger Schöls, Prof. Dr.

CONTACT

+49 7071 29-80445; ludger.schoels@uni-tuebingen.de

Janine Magg, Dr.

CONTACT

+49 7071 29-80445; janine.magg@med.uni-tuebingen.de

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of the Section Clinical Neurogenetics

Study Record Dates

• First Submitted: October 15, 2015
• First Posted: October 28, 2015
• Study Start: December 1, 2015
• Primary Completion: June 1, 2022
• Study Completion: September 1, 2023
• Last Updated: November 13, 2020

Record last verified: 2020-11

Locations

DE (1)