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About 1,028 results

ALLMedicine™ Wilson Disease Center

Research & Reviews  385 results

Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT04909346

Dec 3rd, 2021 - The study is primarily designed to follow a virtual model, in which Screening will take place over a telephone/video call. The study will comprise a single home health visit, either on the same day as Screening or within 30 days of enrollment. A s...

Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT04531189

Dec 1st, 2021 - Given the limited information on the frequency and spectrum of disease manifestations and clinical course of Wilson disease, the UX701-CL001 study aims to assess the utility and feasibility of various assessments and biomarkers to inform endpoint ...

Clinical Study of UX701 AAV-Mediated Gene Transfer for the Treatment of Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT04884815

Dec 1st, 2021 - This study is a randomized, double-blind, placebo-controlled, seamless, adaptive Phase 1/2/3 clinical study of UX701 in patients with Wilson disease. Stage 1 (Phase 1/2) is designed to evaluate the safety and efficacy of 3 dose levels of UX701 to ...

The pathophysiology of Wilson disease visualised: A human 64 Cu PET study.
https://doi.org/10.1002/hep.32238
Hepatology (Baltimore, Md.); Sandahl TD, Gormsen LC et. al.

Nov 14th, 2021 - Wilson disease (WD) is a genetic disease with systemic accumulation of copper that leads to symptoms from the liver and brain. However, the underlying defects in copper transport kinetics are only partly understood. We sought to quantify hepatic c...

Not the Stereotypical Wilson Disease: A Case Report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8555623
Tremor and Other Hyperkinetic Movements (New York, N.Y.); Datta AK, Mukherjee A et. al.

Nov 11th, 2021 - Wilson disease (WD), a potentially treatable genetic disorder with perturbations in copper metabolism, presents with hepatic and neuropsychiatric manifestations. Both hyper and hypokinetic movements predominate the latter spectrum. Motor stereotyp...

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Clinicaltrials.gov  6 results

Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT04909346

Dec 3rd, 2021 - The study is primarily designed to follow a virtual model, in which Screening will take place over a telephone/video call. The study will comprise a single home health visit, either on the same day as Screening or within 30 days of enrollment. A s...

Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT04531189

Dec 1st, 2021 - Given the limited information on the frequency and spectrum of disease manifestations and clinical course of Wilson disease, the UX701-CL001 study aims to assess the utility and feasibility of various assessments and biomarkers to inform endpoint ...

Clinical Study of UX701 AAV-Mediated Gene Transfer for the Treatment of Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT04884815

Dec 1st, 2021 - This study is a randomized, double-blind, placebo-controlled, seamless, adaptive Phase 1/2/3 clinical study of UX701 in patients with Wilson disease. Stage 1 (Phase 1/2) is designed to evaluate the safety and efficacy of 3 dose levels of UX701 to ...

Natural History of Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT03334292

Jul 16th, 2021 - There are three aims outlined as part of this research study. Aim 1 is to study the natural history of a carefully characterized cohort of patients with WD followed longitudinally at Centers of Excellence for WD in the United States and in the Uni...

Establishment of Human Cellular Disease Models for Wilson Disease
https://clinicaltrials.gov/ct2/show/NCT03867526

Apr 9th, 2021 - Wilson disease (WD) is caused by a defective gene for a copper-transporting protein that regulates cellular copper homeostasis in all major organs. Copper is an essential metal ion that is required for physiological cell functions (e.g. numerous e...

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News  18 results

Pediatric NAFLD almost always stems from excess body weight, not other etiologies
https://www.mdedge.com/pediatrics/article/238291/obesity/pediatric-nafld-almost-always-stems-excess-body-weight-not-other
Will Pass

Apr 7th, 2021 - Nonalcoholic fatty liver disease (NAFLD) in children is almost always caused by excess body weight, not other etiologies, based on a retrospective analysis of 900 patients. Just 2% of children with overweight or obesity and suspected NAFLD had oth.

Wilson Disease: Osmosis Study Video
https://www.medscape.com/viewarticle/932327

Jun 19th, 2020 - Wilson disease is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is the result of inadequate copper excretion into bile and blood, result...

High-calorie diet may worsen Wilson disease
https://www.mdedge.com/gihepnews/article/195884/liver-disease/high-calorie-diet-may-worsen-wilson-disease/page/0/1?channel=69

Mar 7th, 2019 - Copper testing showed that Wilson disease rats fed the high-calorie diet had high serum levels of non–ceruloplasmin-bound copper, which is a sign of overt liver damage; based on histologic findings, the copper likely came from destroyed hepatocyte.

Wilson Disease: Osmosis Study Video
https://www.medscape.com/viewarticle/908986

Feb 28th, 2019 - What is Wilson disease? Individuals typically take in more copper than the body needs every day, and any excess is excreted. In patients with Wilson disease, a genetic defect affecting the ATP7B transport protein causes copper to accumulate in the...

Gottron Papules Mimicking Dermatomyositis: An Unusual Manifestation of Systemic Lupus Erythematosus
https://www.mdedge.com/dermatology/article/171216/dermatopathology/gottron-papules-mimicking-dermatomyositis-unusual
Ji Won Ahn, MD, Sherry Yang, MD et. al.

Jul 26th, 2018 - To the Editor: An 11-year-old girl presented to the dermatology clinic with an asymptomatic rash on the bilateral forearms, dorsal hands, and ears of 1 month’s duration. Recent history was notable for persistent low-grade fevers, dizziness, headac.

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Patient Education  2 results see all →