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518
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Dataset results
518 results for “Hereditary”
The Efficacy and Safety of Dapagliflozin in the Treatment of Hereditary Kidney Disease With Proteinuria in Children
ClinicalTrials.gov study NCT06890143. IPD Sharing: Not stated. Countries: 1. Publications: 29.
Phenotypic Manifestations of Hereditary ATTR Amyloidosis
ClinicalTrials.gov study NCT07124377. IPD Sharing: UNDECIDED. Countries: 1. Publications: 4.
Evaluation of the Efficacy of CANNABIDIOL on the Pruritus in Children With Hereditary Epidermolysis Bullosa
ClinicalTrials.gov study NCT05651607. IPD Sharing: NO. Countries: 1. Publications: 10.
Effects of Pazopanib on Hereditary Hemorrhagic Telangiectasia Related Epistaxis and Anemia (Paz)
ClinicalTrials.gov study NCT03850964. IPD Sharing: NO. Countries: 1. Publications: 3.
Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis
ClinicalTrials.gov study NCT01524757. IPD Sharing: Not stated. Countries: 2. Publications: 27.
HAELO: A Phase 3 Study to Evaluate NTLA-2002 in Participants With Hereditary Angioedema (HAE)
ClinicalTrials.gov study NCT06634420. IPD Sharing: NO. Countries: 9. Publications: 0.
BABH Study: Efficacy and Safety of Bevacizumab on Severe Bleedings Associated With Hemorrhagic Hereditary Telangiectasia (HHT).
ClinicalTrials.gov study NCT03227263. IPD Sharing: NO. Countries: 1. Publications: 1.
Hereditary Parkinson s Disease Natural History Protocol
ClinicalTrials.gov study NCT02511015. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis (HH)
ClinicalTrials.gov study NCT03203850. IPD Sharing: YES. Countries: 7. Publications: 0.
Efficacy of a Bevacizumab Nasal Spray as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT)
ClinicalTrials.gov study NCT02106520. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer
ClinicalTrials.gov study NCT00341575. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer
ClinicalTrials.gov study NCT00004210. IPD Sharing: Not stated. Countries: 1. Publications: 4.
Social Evaluated Cold Pressor Test in Hereditary Angioedema Patients
ClinicalTrials.gov study NCT06414252. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy
ClinicalTrials.gov study NCT02176733. IPD Sharing: Not stated. Countries: 1. Publications: 1.
CfDNA in Hereditary And High-risk Malignancies 2
ClinicalTrials.gov study NCT06726642. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia
ClinicalTrials.gov study NCT02690246. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
Patient Centered Clinical Decision Support for Hereditary Cancer Syndromes
ClinicalTrials.gov study NCT06914726. IPD Sharing: YES. Countries: 1. Publications: 6.
Neurofilament light chain (NfL) as a biomarker of hereditary transthyretin-mediated amyloidosis
<p>To identify changes in the proteome associated with onset and progression of ATTRv amyloidosis, we performed an observational, case-controlled study which compared proteomes of patients with ATTRv amyloidosis and healthy controls.</p> <p>Plasma levels of >1,000 proteins were measured in patients with ATTRv amyloidosis with polyneuropathy who received either placebo or patisiran in the APOLLO study and in healthy controls. The impact of patisiran on the time profile of each protein was determined by linear mixed model at 0, 9, and 18 months. Neurofilament light chain (NfL) was further assessed using an orthogonal quantitative approach.</p> <p>Levels of 66 proteins were significantly changed with patisiran vs placebo, with NfL change most significant (p < 10<sup>−20</sup>). Analysis of changes in protein levels demonstrated that the proteome of patisiran-treated patients trended toward healthy controls at 18 months. Healthy controls' NfL levels were 4-fold lower than in patients with ATTRv amyloidosis with polyneuropathy (16.3 vs 69.4 pg/mL, effect: −53.1 pg/mL, 95% CI [–60.5 to −45.9]). NfL levels at 18 months increased with placebo (99.5 vs 63.2 pg/mL, 36.3 pg/mL, [16.5–56.1]) and decreased with patisiran treatment (48.8 vs 72.1 pg/mL, −23.3 pg/mL, [–33.4 to −13.1]) from baseline. At 18 months, improvement in modified Neuropathy Impairment Score +7 following patisiran significantly correlated with reduced NfL (R = 0.43, [0.29–0.55]).</p> <p>Findings suggest NfL may serve as a biomarker of nerve damage and polyneuropathy in ATTRv amyloidosis, may enable earlier diagnosis of patients with ATTRv amyloidosis, and facilitate monitoring of disease progression.</p> <p>This study provides Class III evidence that NfL levels may enable earlier diagnosis of polyneuropathy in patients with ATTRv amyloidosis and facilitate monitoring of disease progression.</p>
Development and Validation of a Patient-Reported Outcome Measure for Hereditary Spastic Paraplegia
<p>This dataset is related to HSP-SNAP test retest in patients with Hereditary Spastic paraplegia (HSP). It also contains HSP-SNAP as assesssed by age-matched healthy subjects. </p> <p>Gender, age are reported for both groups. </p> <p>Age at onset, SPRS, 6 minute walking test and SF-36 are also reported for patients with HSP.</p> <p> </p> <p>please cite the following work if you use this dataset:</p> <p>Diella E, D'Angelo MG, Stefan C, Girardi G, Morganti R, Martinuzzi A, Biffi E. Validation of the Italian version of a patient-reported outcome measure for Hereditary Spastic Paraplegia. PLoS One. 2024 Apr 1;19(4):e0301452. doi: 10.1371/journal.pone.0301452. PMID: 38557877; PMCID: PMC10984402.</p>
A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myo
ClinicalTrials.gov study NCT02731690. IPD Sharing: Not stated. Countries: 3. Publications: 0.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.