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dbGaP phs000486 Integration of Genomics and Transcriptomics in unselected Twins and in Major Depression - Eligibility

- 2025-01-29 - 6 moduli, 1 ItemGroup, 6 elementi, 1 linguaggio

ItemGroup: IG.elig

Principal Investigator: Patrick F. Sullivan, MD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA MeSH: Depressive Disorder, Major https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000486 Our goals are to develop a comprehensive understanding of the genomics of transcription in a population based unselected sample and to discover DNA and RNA biomarkers for major depressive disorder (MDD). This work is essential to developing a more complete understanding of the biological basis of MDD, a common complex trait associated with considerable morbidity, mortality, and personal/societal cost. All biological samples have been collected from well-defined populations, and are now available. First, we conduct a "genetical genomics" or eQTL study of ~800 MZ and ~800DZ twin pairs. Each subject has been assayed for genome-wide SNPs and CNVs and gene expression from peripheral blood sampled under standardized conditions. We determine the genetic architecture (genetic and non-genetic proportions of variance via twin analyses) for every transcript, and the genome-wide associations (i.e., SNP-transcript eQTL pairs). These analyses will be expanded to consider transcriptional modules. The key deliverable is a detailed catalogue of the general and specific architecture of transcription plus raw intensity files. Second, we seek to discover DNA and RNA biomarkers relevant to MDD, capitalizing on the results of a large MDD study with repeated clinical and biological assessments; we have previously shown that PB is a reasonable proxy for CNS expression and employ an advanced modelling framework: (a) Using baseline data, we identify biomarkers for MDD by comparing ~1000 controls with ~1400 MDD cases via comparisons of SNP, CNV, expression transcripts, and transcriptional modules. (b) Using longitudinal data, we contrast gene expression signatures assessed at baseline and two years later in ~200 controls and ~500 MDD cases.

Depressive Disorder, Major

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dbGaP phs000899 NIMH Amish Mennonite Bipolar Genetics Study (AmBiGen) - pht008941.v1.p1

- 2024-04-02 - 6 moduli, 1 ItemGroup, 3 elementi, 1 linguaggio

ItemGroup: pht008941

Principal Investigator: Francis McMahon, MD, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA MeSH: Bipolar Disorder,Psychotic Disorders,Depressive Disorder, Major https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000899 Bipolar affective disorder is a severe, heritable condition affecting about one percent of the population. The mode of inheritance is poorly understood and probably involves multiple loci of small to moderate effect. In this project, we use genetic mapping and sequencing methods to identify genetic markers and variations that contribute to the risk of bipolar disorder. Individuals diagnosed with bipolar disorder are studied, along with their relatives. Phenotypic information obtained from clinical interviews and family history is correlated with genotypic information obtained from genetic marker and sequencing methods. The goal is to identify genes involved in bipolar disorder and related conditions so that better methods of diagnosis, treatment, and prevention can be developed.

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Eligibility

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dbGaP phs000979 HBCC Postmortem Psychiatric Molecular Studies - pht005195.v2.p2

- 2024-01-17 - 5 moduli, 1 ItemGroup, 20 elementi, 1 linguaggio

ItemGroup: pht005195

Eligibility

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pht005196.v3.p2

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pht005193.v2.p2

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pht005194.v3.p2

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dbGaP phs000658 MDD2000AFFY - Eligibility

- 2023-02-14 - 5 moduli, 1 ItemGroup, 3 elementi, 1 linguaggio

ItemGroup: IG.elig

Principal Investigator: Patrick F. Sullivan, University of North Carolina, Chapel Hill, NC, USA MeSH: Major Depressive Disorder https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000658 Sub-study QI: 941 cases of Major Depressive Disorder (MDD) from the Queensland Institute of Medical Research (QIMR), Australia Sub-study VU: 127 MDD cases from The Netherlands Study of Anxiety and Depression (NESDA) (http://www.nesda.nl) and The Netherlands Twin Registry (NTR) (http://www.tweelingenregister.org) based at the VU Amsterdam, The Netherlands. Sub-study ED: 373 MDD cases from the University of Edinburgh, UK.

Depressive Disorder, Major

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dbGaP phs000670 PGRN Antidepressant Medication Pharmacogenomic Study (AMPS) - Eligibility

- 2023-01-31 - 5 moduli, 1 ItemGroup, 12 elementi, 1 linguaggio

ItemGroup: IG.elig

Principal Investigator: Richard M. Weinshilboum, MD, Mayo Clinic, Rochester, MN, USA MeSH: Major Depressive Disorder https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000670 This pharmacogenomic study focused on the response of patients with MDD to an 8-week course of treatment with citalopram or escitalopram. Briefly, clinical assessments and research assessments were performed at each study visit as summarized in Table 1. Many patients continued on antidepressant medication after the 8 week study. *Table 1*: Study timeline and patient contacts. table border="1" tr thWeek/th thConsent/Med Hx/th thWrite Rx/th thSI Qx/th thSCID/th thHRS-D17/th thQIDSC16/th thCGI-I/th /tr tr td0/td tdSC/td tdRC/td tdRC/td tdSC/td tdSC/td tdSC/td td/td /tr tr td4/td td/td tdRC/td tdRC/td td/td tdSC/td tdSC/td tdRC/td /tr tr td8/td td/td tdRC/td tdRC/td td/td tdSC/td tdSC/td tdRC/td /tr /table HRS-D17=Hamilton Rating Scale for Depression, QIDS-C16=Quick Inventory of Depressive Symptomatology, CGI-I=Clinical Global Impression-Improvement, SCID=Structured Clinical Interview for DSM-IV, SC=Study Coordinator, RC=Research Clinician. **Enrollment and baseline assessment.** Upon initial intake, the Study Coordinator (SC) obtained informed consent as well as clinical and demographic information, including history of bone marrow or liver transplant or blood transfusion within the previous 6 weeks, and prior history of treatment during the current major depressive episode. The SC completed the Structured Clinical Interview for DSM-IV (SCID), the HRS-D17 (17-item Hamilton Rating Scale for Depression) and the QIDS-C16 (Quick Inventory of Depressive Symptomatology) and reviewed the inclusion/exclusion criteria. After review with the Research Clinician (RC) and when appropriate, after a negative pregnancy test, the SC invited the subject to participate in the study if entry criteria were met. If the subject agreed, he/she received treatment according to the study protocol. **Treatment schedule.** Participants selected for inclusion in the study were seen at weeks 0, 4, and 8. The appropriate treatment antidepressant (citalopram or escitalopram) was determined following discussion between the patient and RC concerning medical, financial, and insurance considerations. The study medication citalopram was given in tablet or liquid form, depending on the patient's need. A fixed-flexible dose schedule was employed with the possibility of a dose escalation. In particular, the initial dose of citalopram was 20 mg and escitalopram was 10 mg. This dose was increased to 40 mg and 20 mg, respectively, after 4 weeks if the subject had a score of /= 6 on the QIDS-C16 and the RC concluded that the subject could tolerate the increase. If necessary, dose was reduced at the discretion of the RC. The importance of medication compliance was discussed with the subject, and subjects were asked to bring in the medication at each visit for the purpose of counting remaining pills to assess compliance. Participants may have had an abbreviated course of therapy if they were clearly intolerant of the drug or failed to respond to a 40 mg dose of citalopram or a 20 mg dose of escitalopram. They then received standard treatment from a primary physician or psychiatrist with different medications and/or therapeutic modalities (e.g. psychotherapy). Special attention was given to subjects with suicidal ideation. Those subjects were offered additional appointments as needed to ensure their safety. Participants were also contacted by telephone at week 1 and week 2 by the Clinical Nurse Specialist (CNS) or other study personnel to ensure medication compliance and patient safety. The CNS was supervised by the study psychiatrist and principal investigator and deferred to the physician's judgment as needed. The SC was trained to notify the RC at the time of the clinical visits or the phone interviews if the subject endorsed any suicidal ideation or plans. For those subjects who were unable to attend the follow-up visits as scheduled, the patient was contacted by phone to complete the HRS-D17/QIDS-C16. The participant was also asked to return to the clinic to complete a final blood draw for the study. **Adjunctive and concurrent medications.** Adjunctive treatments were those used to manage transient associated symptoms (e.g., insomnia) or transient or longer-term medication side effects (e.g., sexual dysfunction). Adjunctive treatments that were not used to treat depression were allowed during the study. However, drugs in the exclusion criteria for this study were not used as adjunctive therapies. Subjects were allowed to participate in the study while receiving concurrent medications for general medical conditions as long as there was no contraindication to use while taking citalopram or escitalopram. **Drug efficacy phenotype evaluation.** The change in QIDS-C16 score and change in HRS-D17 score were used as the major research outcome measures to assess drug response. At each clinical research visit, the RC also completed the Clinician Global Impression of Improvement (CGI-I) scale. For the primary genome-wide association analyses, dichotomous outcome variables, remission and response, were defined based on the QIDS-C16 last visit score. Remission was defined as a QIDS-C16 score of 5 or less, while response was defined as at least a 50% reduction in the QIDS-C16 score from baseline. **Specimen collection.** Specimen collections were obtained by the General Clinical Research Center (GCRC) at St. Mary's Hospital (SMH). Subjects had blood drawn on an outpatient basis at GCRC-SMH on three separate occasions - baseline (0), week 4 and week 8 visits. Prior to sample collection, date and time of last dose of study medication was gathered at the 4 and 8 week visits. For those patients who were unable to complete the regularly scheduled visits, a dismissal blood draw was requested. GCRC then shipped samples to Mayo Clinic's Biospecimens Accessioning and Processing Lab. **Genotyping and biomarker assays.** DNA from 529 patients was genotyped by the RIKEN Center for Genomic Medicine (Yokohama, Japan) using Illumina Human610-Quad BeadChips (Illumina, San Diego, CA). The study also included the determination of plasma drug levels at weeks 4 and 8, and metabolite levels at baseline and weeks 4 and 8 for a subset of subjects. The primary genome-wide association study based on these data, which includes a summary of the protocol, subject description, selection of subjects for genetic analyses, and definitions of clinical outcomes, was published in the Pharmacogenomics Journal (Ji et al., 2012).

Depressive Disorder, Major

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