Search results - Portal of Medical Data Models (MDM-Portal)

dbGaP phs001272 Broad Institute Center for Mendelian Genomics - Eligibility

- 4/15/23 - 6 forms, 1 itemgroup, 9 items, 1 language

Itemgroup: IG.elig

Principal Investigator: Daniel G. MacArthur, Broad Institute, Cambridge, MA, USA MeSH: Genetic Diseases, Inborn,Bardet-Biedl Syndrome,Blepharoptosis,Chorea,Ciliopathies,Coffin-Siris Syndrome,Congenital Abnormalities,Craniofacial Abnormalities,Developmental Disabilities,Growth Disorders,Hearing Loss, Sensorineural,Hypertelorism,Intellectual disability,Kidney Diseases,Lung Diseases, Interstitial,Macular Degeneration,Muscular Diseases,Neurodegenerative Diseases,Neurodevelopmental Disorders,Nervous System Malformations,Night Blindness,Retinal Degeneration,Retinitis Pigmentosa,Seizures,Spastic Paraplegia, Hereditary,Usher Syndromes https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001272 The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

dbGaP phs000747 Whole Exome and Transcriptome Sequencing in Sporadic ALS - Eligibility

- 12/10/22 - 5 forms, 1 itemgroup, 2 items, 1 language

Itemgroup: IG.elig

Principal Investigator: Graziano Pesole, Prof, IBIOM-CNR and University of Bari, Bari, Italy MeSH: Amyotrophic Lateral Sclerosis,Motor Neuron Disease,Neurodegenerative Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000747 Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a fatal and devastating neurodegenerative disorder that causes the progressive death of upper and lower motor neurons. Although many efforts have been done to elucidate molecular factors involved in the onset and progression of the disorder, the causes of ALS are yet unknown and undefined. Transcriptome studies, based mostly on microarrays, have revealed multiple perturbations of the motor neuron function, supporting the current idea that several cellular events contribute to the pathobiology of the disease, including mitochondrial dysfunction, enhanced apoptosis, glutamate-mediated excitotoxicity, free radical injury, protein misfolding, abnormal calcium metabolism and altered axonal transport. In the present study, we have deeply sequenced the whole transcriptome of ventral horns of the human lumbar spinal cord from matched control and ALS post-mortem donors. Whole exome sequencing from the same donors has also been performed to exclude known genetic variants associated to the familiar form of ALS. In addition, to characterize the ALS transcriptome we have sequenced the RNA fraction at low molecular weight in the same tissues and individuals. Genomic and transcriptomic reads have been generated using the Illumina HiSeq2000 sequencer.

DELCODE: DZNE – Longitudinal Cognitive Impairment and Dementia Study - Diagnosis criteria Amyotrophic lateral sclerosis (ALS) (Diagnosekriterien Amyotrophe Lateralsklerose (ALS))

- 9/20/21 - 1 form, 12 itemgroups, 34 items, 1 language

Itemgroups: Administrative Data, Amyotrophic lateral sclerosis (ALS), Diagnostic criteria and motor subtypes, classical ALS, ALS exclusion criteria, Diagnosis facilitation, ALS occurrence, ALS (not impaired) without cognitive impairment, ALS (cognitive impaired), ALS (behaviourally impaired), ALS (cognitively and behaviourally impaired), ALS‐FTD, ALS (without cognitive impairment, genetic risk for FTD)

DELCODE is conducted by DZNE, the German Center for Neurodegenerative Diseases within the Helmholtz Association. The following information was taken from https://www.dzne.de/en/research/studies/clinical-studies/delcode/. Background and aims: One of the important aims of research into Alzheimer's is to find ways of detecting the disease early – if at all possible, as soon as the first minor symptoms appear, or even before any symptoms at all have appeared. Such detection capabilities are the necessary basis for development of therapies that can be applied at such early stages in the disease. Recent research indicates that such therapies could be more effective than therapies initiated during the disease's later stages. Over a period of several years, the DELCODE study is studying persons in early stages of the disease, along with various risk groups. The research is aimed at the development of procedures for characterizing early stages of the disease, at improving prediction of the course of the disease and at identifying new markers for early diagnosis of Alzheimer's-related dementia. Overview: DELCODE is set up to run for an initial period of three years, and to include a total of 1,000 study participants, who will be examined on a yearly basis. The group of participants will include persons with no complaints (healthy control subjects), patients with slight memory impairment or mild dementia and first-degree relatives of patients with diagnosed Alzheimer's disease. The minimum age for participants is 60. Course of the study: The examinations in the framework of the study will include a comprehensive interview carried out by a study investigator, a detailed neuropsychological examination (testing of memory functions and other areas of cognitive performance), a blood test and a cranial MRI scan. Optionally, subject to the study participant's consent in each case, a lumbar puncture (collection of cerebrospinal fluid) will be carried out." For more information (e.g. principle investigator and study coordination), please visit the above link or https://www.dzne.de. This document contains the Diagnosis criteria Amyotrophic lateral sclerosis (ALS) form. It has to be filled in if an ALS is diagnosed. Note: If there is a motor neuron disease, fill in the motor neuron disease assessment!

DESCRIBE (DZNE – Clinical Register Study of neurodegenerative Disorders) CRF Diagnostic Criteria - CRF Diagnostic Criteria

- 9/20/21 - 1 form, 20 itemgroups, 378 items, 1 language

Itemgroups: Date of visit, Mild cognitive impairment (MCI), Dementia in Alzheimer's Disease (AD), Posterior cortical atrophy (PCA), Vascular dementia, Frontotemporal dementia, behavioral variant, Primary progressive aphasia (PPA), Progressive nonfluent aphasia (PNFA), Logopenic progressive aphasia (LPA), Semantic dementia (SemD), Idiopathic Parkinson's disease (IPS), Morbus parkinson along with MCI (PD-MCI), Dementia in Parkinsons disease, Dementia with Lewy bodies (DLB), Progressive supranuclear palsy, Corticobasal degeneration (CBD), Multiple system atrophy (MSA), Essential tremor (ET), Amyotrophic lateral sclerosis (ALS), Depression

Background and Purpose: The purpose of the DESCRIBE study is to document the natural course of diseases in context of medical care of neurodegenerative disorders as well as cerebrovascular diseases and to perform phenotyping of the test persons. Disease-spanning analyses of the measured clincial data, the results of the imaging processes, results of the analysis of the biometerials including genetic analysis are planed. Principal Investigator: Prof. Klockgether, Dr. Spottke DZNE, Bonn. Source: DESCRIBE-Studie http://www.dzne.de/forschung/forschungsbereiche/klinische-forschung/studien/describe-bn006.html Participating Study Sites: Berlin, Bonn, Göttingen, Dresden, Köln, Magdeburg, München, Rostock/Greifswald, Tübingen

DESCRIBE (DZNE – Clinical Register Study of neurodegenerative Disorders) CRF Baseline Basis Module - DESCRIBE CRF Baseline Basis Module

- 9/20/21 - 1 form, 23 itemgroups, 256 items, 1 language

Itemgroups: Date of visit, Demographics, National origin, Mother tongue, Clinical diagnosis, Living situation, Education and profession, Consumption of semiluxury food - nicotine, Consumption of semiluxury food - alcohol, Vital signs, Clinical phenotype - Anamnesis and inspection, Clinical phenotype - Further examination, Umsars I: Questions 9-12, Anamnesis motor skills, Montreal Cognitive Assessment (MoCA), Geriatric depression scale (GDS), Sampling - Blood collection, Sampling according to SOP, Registration of samples, Sampling - Urine sample, Sampling according to SOP (Urine), Results of urine strips, Registration of samples (Urine)

Background and Purpose: The purpose of the DESCRIBE study is to document the natural course of diseases in context of medical care of neurodegenerative disorders as well as cerebrovascular diseases and to perform phenotyping of the test persons. Disease-spanning analyses of the measured clincial data, the results of the imaging processes, results of the analysis of the biometerials including genetic analysis are planed. Principal Investigator: Prof. Klockgether, Dr. Spottke DZNE, Bonn. Source: DESCRIBE-Studie http://www.dzne.de/forschung/forschungsbereiche/klinische-forschung/studien/describe-bn006.html Participating Study Sites: Berlin, Bonn, Göttingen, Dresden, Köln, Magdeburg, München, Rostock/Greifswald, Tübingen

DESCRIBE (DZNE – Clinical Register Study of neurodegenerative Disorders) CRF Follow Up - DESCRIBE CRF Follow Up

- 9/20/21 - 1 form, 22 itemgroups, 223 items, 1 language

Itemgroups: Date of visit, Clinical diagnosis, Cumulative documentation, Living situation, Professional status, Consumption of semiluxury food - nicotine, Consumption of semiluxury food - alcohol, Vital signs, Clinical phenotype, Clinical phenotype - Anamnesis and inspection, Clinical phenotype - Further examination, Umsars I: Questions 9-12, Anamnesis motor skills, Montreal Cognitive Assessment (MoCA), Geriatric depression scale (GDS), Sampling - Blood collection, Sampling according to SOP, Registration of samples, Sampling - Urine sample, Sampling according to SOP (Urine), Results of urine strips, Registration of samples (Urine)

Background and Purpose: The purpose of the DESCRIBE study is to document the natural course of diseases in context of medical care of neurodegenerative disorders as well as cerebrovascular diseases and to perform phenotyping of the test persons. Disease-spanning analyses of the measured clincial data, the results of the imaging processes, results of the analysis of the biometerials including genetic analysis are planed. Principal Investigator: Prof. Klockgether, Dr. Spottke DZNE, Bonn. Source: DESCRIBE-Studie http://www.dzne.de/forschung/forschungsbereiche/klinische-forschung/studien/describe-bn006.html Participating Study Sites: Berlin, Bonn, Göttingen, Dresden, Köln, Magdeburg, München, Rostock/Greifswald, Tübingen

DELCODE: DZNE – Longitudinal Cognitive Impairment and Dementia Study - Questionnaires

- 1/30/21 - 1 form, 11 itemgroups, 25 items, 1 language

Itemgroups: Administrative Data, Physical Activity Scale for the Elderly (PASE), Lubben Social Network Scale (LSNS-6), PSQI Pittsburgh Sleep Quality Index, ESS (Eppworth sleepiness scale), RBDSQ - REM Sleep Disorder Questionnaire, LEQ (Proband), Big Five Inventory, ECog (Proband), ECog (External rating), FAQ

DELCODE is conducted by DZNE, the German Center for Neurodegenerative Diseases within the Helmholtz Association. The following information was taken from https://www.dzne.de/en/research/studies/clinical-studies/delcode/. Background and aims: One of the important aims of research into Alzheimer's is to find ways of detecting the disease early – if at all possible, as soon as the first minor symptoms appear, or even before any symptoms at all have appeared. Such detection capabilities are the necessary basis for development of therapies that can be applied at such early stages in the disease. Recent research indicates that such therapies could be more effective than therapies initiated during the disease's later stages. Over a period of several years, the DELCODE study is studying persons in early stages of the disease, along with various risk groups. The research is aimed at the development of procedures for characterizing early stages of the disease, at improving prediction of the course of the disease and at identifying new markers for early diagnosis of Alzheimer's-related dementia. Overview: DELCODE is set up to run for an initial period of three years, and to include a total of 1,000 study participants, who will be examined on a yearly basis. The group of participants will include persons with no complaints (healthy control subjects), patients with slight memory impairment or mild dementia and first-degree relatives of patients with diagnosed Alzheimer's disease. The minimum age for participants is 60. Course of the study: The examinations in the framework of the study will include a comprehensive interview carried out by a study investigator, a detailed neuropsychological examination (testing of memory functions and other areas of cognitive performance), a blood test and a cranial MRI scan. Optionally, subject to the study participant's consent in each case, a lumbar puncture (collection of cerebrospinal fluid) will be carried out. For more information (e.g. principle investigator and study coordination), please visit the above link or https://www.dzne.de. This document contains different kinds of questionnaires which can not be illustrated completely. This form has to be filled out at baseline and all follow-ups. The Big Five Inventory (BFI-10) has to be filled out only at baseline.

Eligibility Alzheimer's Disease NCT01450891

- 11/5/20 - 1 form, 2 itemgroups, 13 items, 1 language

Itemgroups: Inclusion Criteria, Exclusion Criteria

Health Technology Assessment of Diagnostic Approaches in Alzheimer's Disease; ODM derived from: https://clinicaltrials.gov/show/NCT01450891

DELCODE: DZNE – Longitudinal Cognitive Impairment and Dementia Study - PET Investigation

- 10/30/20 - 1 form, 3 itemgroups, 61 items, 1 language

Itemgroups: Administrative Data, FBB-PET-Examination, FDG-PET

DELCODE is conducted by DZNE, the German Center for Neurodegenerative Diseases within the Helmholtz Association. The following information was taken from https://www.dzne.de/en/research/studies/clinical-studies/delcode/. Background and aims: One of the important aims of research into Alzheimer's is to find ways of detecting the disease early – if at all possible, as soon as the first minor symptoms appear, or even before any symptoms at all have appeared. Such detection capabilities are the necessary basis for development of therapies that can be applied at such early stages in the disease. Recent research indicates that such therapies could be more effective than therapies initiated during the disease's later stages. Over a period of several years, the DELCODE study is studying persons in early stages of the disease, along with various risk groups. The research is aimed at the development of procedures for characterizing early stages of the disease, at improving prediction of the course of the disease and at identifying new markers for early diagnosis of Alzheimer's-related dementia. Overview: DELCODE is set up to run for an initial period of three years, and to include a total of 1,000 study participants, who will be examined on a yearly basis. The group of participants will include persons with no complaints (healthy control subjects), patients with slight memory impairment or mild dementia and first-degree relatives of patients with diagnosed Alzheimer's disease. The minimum age for participants is 60. Course of the study: The examinations in the framework of the study will include a comprehensive interview carried out by a study investigator, a detailed neuropsychological examination (testing of memory functions and other areas of cognitive performance), a blood test and a cranial MRI scan. Optionally, subject to the study participant's consent in each case, a lumbar puncture (collection of cerebrospinal fluid) will be carried out." For more information (e.g. principle investigator and study coordination), please visit the above link or https://www.dzne.de. This document contains information about the PET investigation. The PET investigation form is for patients eligible for the PET sub-study of DELCODE only. Two PET investigations are to be conducted: a baseline investigation once eligible and a follow-up investigation 24 months after the baseline PET.

DELCODE: DZNE – Longitudinal Cognitive Impairment and Dementia Study - Magnetic resonance imaging investigation (3T‐MRT‐Untersuchung)

- 10/30/20 - 1 form, 4 itemgroups, 11 items, 1 language

Itemgroups: Administrative Data, Information about MRI, Performance of first MRI, Performance of second MRI

DELCODE is conducted by DZNE, the German Center for Neurodegenerative Diseases within the Helmholtz Association. The following information was taken from https://www.dzne.de/en/research/studies/clinical-studies/delcode/. Background and aims: One of the important aims of research into Alzheimer's is to find ways of detecting the disease early – if at all possible, as soon as the first minor symptoms appear, or even before any symptoms at all have appeared. Such detection capabilities are the necessary basis for development of therapies that can be applied at such early stages in the disease. Recent research indicates that such therapies could be more effective than therapies initiated during the disease's later stages. Over a period of several years, the DELCODE study is studying persons in early stages of the disease, along with various risk groups. The research is aimed at the development of procedures for characterizing early stages of the disease, at improving prediction of the course of the disease and at identifying new markers for early diagnosis of Alzheimer's-related dementia. Overview: DELCODE is set up to run for an initial period of three years, and to include a total of 1,000 study participants, who will be examined on a yearly basis. The group of participants will include persons with no complaints (healthy control subjects), patients with slight memory impairment or mild dementia and first-degree relatives of patients with diagnosed Alzheimer's disease. The minimum age for participants is 60. Course of the study: The examinations in the framework of the study will include a comprehensive interview carried out by a study investigator, a detailed neuropsychological examination (testing of memory functions and other areas of cognitive performance), a blood test and a cranial MRI scan. Optionally, subject to the study participant's consent in each case, a lumbar puncture (collection of cerebrospinal fluid) will be carried out." For more information (e.g. principle investigator and study coordination), please visit the above link or https://www.dzne.de. This form contains information about the MRI investigation.

DELCODE: DZNE – Longitudinal Cognitive Impairment and Dementia Study - MRI - Contraindication form (MRT-Kontraindikationsbogen)

- 10/30/20 - 1 form, 2 itemgroups, 15 items, 1 language

Itemgroups: Administrative Data, MRI- Contraindications

DELCODE is conducted by DZNE, the German Center for Neurodegenerative Diseases within the Helmholtz Association. The following information was taken from https://www.dzne.de/en/research/studies/clinical-studies/delcode/. Background and aims: One of the important aims of research into Alzheimer's is to find ways of detecting the disease early – if at all possible, as soon as the first minor symptoms appear, or even before any symptoms at all have appeared. Such detection capabilities are the necessary basis for development of therapies that can be applied at such early stages in the disease. Recent research indicates that such therapies could be more effective than therapies initiated during the disease's later stages. Over a period of several years, the DELCODE study is studying persons in early stages of the disease, along with various risk groups. The research is aimed at the development of procedures for characterizing early stages of the disease, at improving prediction of the course of the disease and at identifying new markers for early diagnosis of Alzheimer's-related dementia. Overview: DELCODE is set up to run for an initial period of three years, and to include a total of 1,000 study participants, who will be examined on a yearly basis. The group of participants will include persons with no complaints (healthy control subjects), patients with slight memory impairment or mild dementia and first-degree relatives of patients with diagnosed Alzheimer's disease. The minimum age for participants is 60. Course of the study: The examinations in the framework of the study will include a comprehensive interview carried out by a study investigator, a detailed neuropsychological examination (testing of memory functions and other areas of cognitive performance), a blood test and a cranial MRI scan. Optionally, subject to the study participant's consent in each case, a lumbar puncture (collection of cerebrospinal fluid) will be carried out." For more information (e.g. principle investigator and study coordination), please visit the above link or https://www.dzne.de. This form contains information about contraindication for a MRI scan.

DELCODE: DZNE – Longitudinal Cognitive Impairment and Dementia Study - PET Investigation - In- and exclusion criteria

- 10/30/20 - 1 form, 5 itemgroups, 23 items, 1 language

Itemgroups: Administrative Data, PET‐Screening, PET-screening: Inclusion criteria, PET-screening: Exclusion criteria, Direct address of the test person

DELCODE is conducted by DZNE, the German Center for Neurodegenerative Diseases within the Helmholtz Association. The following information was taken from https://www.dzne.de/en/research/studies/clinical-studies/delcode/. Background and aims: One of the important aims of research into Alzheimer's is to find ways of detecting the disease early – if at all possible, as soon as the first minor symptoms appear, or even before any symptoms at all have appeared. Such detection capabilities are the necessary basis for development of therapies that can be applied at such early stages in the disease. Recent research indicates that such therapies could be more effective than therapies initiated during the disease's later stages. Over a period of several years, the DELCODE study is studying persons in early stages of the disease, along with various risk groups. The research is aimed at the development of procedures for characterizing early stages of the disease, at improving prediction of the course of the disease and at identifying new markers for early diagnosis of Alzheimer's-related dementia. Overview: DELCODE is set up to run for an initial period of three years, and to include a total of 1,000 study participants, who will be examined on a yearly basis. The group of participants will include persons with no complaints (healthy control subjects), patients with slight memory impairment or mild dementia and first-degree relatives of patients with diagnosed Alzheimer's disease. The minimum age for participants is 60. Course of the study: The examinations in the framework of the study will include a comprehensive interview carried out by a study investigator, a detailed neuropsychological examination (testing of memory functions and other areas of cognitive performance), a blood test and a cranial MRI scan. Optionally, subject to the study participant's consent in each case, a lumbar puncture (collection of cerebrospinal fluid) will be carried out." For more information (e.g. principle investigator and study coordination), please visit the above link or https://www.dzne.de. This document contains information about the PET investigation. It has to be filled in before PET study inclusion or before the PET follow-up examination.

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Selected data models

dbGaP phs001272 Broad Institute Center for Mendelian Genomics - Eligibility

pht007302.v1.p1

pht007300.v1.p1

pht007303.v1.p1

pht007304.v1.p1

pht007301.v1.p1