Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu syndrome)

To compare the effectiveness and tolerability of 532/1064-nm KTP/Nd: YAG laser versus 595-nm pulsed dye laser for treating various cutaneous vascular lesions, including conditions related to hereditary hemorrhagic telangiectasia (HHT).

To develop and validate a prediction model for neurological outcomes after microsurgical resection of brain arteriovenous malformations (AVMs).

To report a case of spontaneous rupture of the urinary bladder (SRUB) in a patient with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).

To review and summarize reported cases of pancreatic arteriovenous malformations (AVMs) in patients with hereditary hemorrhagic telangiectasia (HHT), providing insights into demographics, clinical presentations, diagnostic methods, treatments, and follow-up outcomes.

To investigate the pathogenesis of pulmonary vascular malformations (PVMs) in patients with single ventricle congenital heart disease and to identify shared mechanisms with hereditary hemorrhagic telangiectasia (HHT) arteriovenous malformations (AVMs).

To characterize 30-day postoperative outcomes following craniotomy for arteriovenous malformation (AVM) resection in pediatric patients and identify independent predictors of adverse events.

To review the current diagnostic and therapeutic paradigms for Hereditary Hemorrhagic Telangiectasia (HHT), focusing on systemic therapy and modern management strategies.

To profile circulating angiogenic and inflammatory biomarkers in patients with hereditary hemorrhagic telangiectasia (HHT) undergoing bevacizumab treatment and assess their relation to clinical severity and response to therapy.

To evaluate a staged embolisation strategy for treating spinal epidural arteriovenous fistula (SEDAVF) in a patient with a concurrent pulmonary arteriovenous malformation (PAVM).

To evaluate the role of stereotactic radiosurgery (SRS) in the management of surgically inoperable cerebral arteriovenous malformations (AVMs) and to propose an individualized treatment framework.

To evaluate the efficacy and safety of bevacizumab for treating severe epistaxis in patients with Hereditary Hemorrhagic Telangiectasia (HHT) and to explore how clinical and genetic factors affect treatment outcomes.

To explore the role of extracellular matrix remodeling and internal elastic lamina (IEL) alterations in cerebral arteriovenous malformations (cAVMs) and their contributions to vascular wall biology and structural stability.

To explore the feasibility and implications of body donation for research in hereditary hemorrhagic telangiectasia (HHT), focusing on the analysis of human tissue samples with and without vascular malformations.

To evaluate the efficacy of engasertib 40 mg once daily in reducing the frequency of epistaxis in patients with moderate to severe Hereditary Hemorrhagic Telangiectasia (HHT) over a 28-week period.

To assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of the investigational drug ALN-6400 in both healthy volunteers and adult patients diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT).

To develop and evaluate a two-step genetic risk stratification model for brain arteriovenous malformations (bAVM) incorporating both rare Mendelian variants and a polygenic risk score (BAVM-PRS) to enhance screening efficiency.

To explore differences in expressivity and quantify the degree of phenotypic variability among individuals with hereditary hemorrhagic telangiectasia (HHT) carrying the same pathogenic variant.

To compare the efficacy and safety of various pharmacologic therapies in managing spontaneous epistaxis associated with Hereditary Hemorrhagic Telangiectasia (HHT).

To compare long-term hemorrhagic and functional outcomes between intervention and observation strategies for brain arteriovenous malformations (bAVMs).

To evaluate the long-term clinical outcomes of an accelerated volume-staged stereotactic radiosurgery (AVS-SRS) approach for treating large cerebral arteriovenous malformations (AVMs).

To report the case of a 69-year-old female with bilateral pulmonary arteriovenous malformations (PAVMs) incidentally found during CT imaging for appendicitis and treated via thoracoscopic surgery.

To report a case of gastric juvenile-type polyposis associated with a SMAD4 mutation and highlight the importance of genetic testing in diagnosing hereditary syndromes.

To evaluate the safety, tolerability, pharmacokinetics, and preliminary efficacy of DIAG723 in adult patients with hereditary hemorrhagic telangiectasia (HHT).

To generate and characterize two induced pluripotent stem cell (iPSC) lines from hereditary hemorrhagic telangiectasia (HHT) patients with specific ACVRL1 mutations.

To compare outcomes of microsurgical resection versus conservative management for unruptured brain arteriovenous malformations (AVMs) using post-ARUBA evidence.

To evaluate the efficacy and safety of ATV-1601 in patients with moderate to severe Hereditary Hemorrhagic Telangiectasia (HHT).

To identify somatic genetic mutations activating the MAPK signaling pathway in brain arteriovenous malformations (bAVMs) using liquid biopsies, aiming to enhance non-invasive diagnostic capabilities and therapeutic options.

To highlight the atypical presentation and delayed diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT) in a 71-year-old patient who did not exhibit recurrent epistaxis, thereby emphasizing the need for broader diagnostic considerations of HHT.

To clarify genetic diagnoses in patients presenting with symptoms resembling hereditary hemorrhagic telangiectasia - juvenile polyposis syndrome (HHT-JPS) versus familial adenomatous polyposis (FAP).

To evaluate the prevalence of hereditary haemorrhagic telangiectasia (HHT) using genetic data and machine learning techniques, compared to traditional clinical assessments.

To evaluate the effectiveness of topical intranasal therapies for managing epistaxis in patients with Hereditary Hemorrhagic Telangiectasia (HHT) and compare them to placebo treatments.

To report a rare case of ruptured pulmonary arteriovenous malformation (PAVM) during pregnancy that resulted in hemothorax and to emphasize the need for awareness and proper diagnostic modalities in emergency settings.

To inform about the FDA's decision to add a boxed warning to ferric carboxymaltose (FCM) regarding the risk of serious hypophosphatemia following a citizen petition led by Dr. Scott Olitsky from Cure HHT.

To examine the molecular and cellular mechanisms through which inflammatory pathways contribute to the development, rupture, and treatment response of brain arteriovenous malformations (bAVMs).

To evaluate the effectiveness of en bloc resection combined with trapezius island flap reconstruction in treating giant extracranial arteriovenous malformations (AVMs) in the orbital region.

To evaluate current evidence on systemic therapies for Hereditary Hemorrhagic Telangiectasia (HHT) and identify emerging therapeutic targets.

To evaluate the efficacy of selective venous ammonia sampling-guided embolization in treating refractory hepatic encephalopathy associated with intrahepatic portovenous shunts in patients with Hereditary Hemorrhagic Telangiectasia (HHT).

To investigate the clinical phenotypes and genetic variations associated with the ENG gene in four families affected by Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1), particularly focusing on individuals with pulmonary arteriovenous malformations (PAVMs).

To evaluate the safety and efficacy of the topical application of TOR-582 (sirolimus) for managing epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT).

This study reports a pediatric case where Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia (HHT) syndrome was diagnosed through the manifestation of anemia associated with pulmonary arteriovenous malformations (PAVM).

To evaluate the prevalence and clinical implications of Hereditary Hemorrhagic Telangiectasia (HHT) in relation to the genes involved (ALK1, endoglin, SMAD4) and treatment modalities (bevacizumab, pomalidomide) for associated arteriovenous malformations.

To evaluate the use and effectiveness of bevacizumab as a treatment option for patients with hereditary hemorrhagic telangiectasia (HHT) in France.

To present a case of renal arteriovenous malformation (AVM) in a young patient with persistent hypertension, emphasizing the diagnostic challenges and the role of selective renal angiography.

To highlight the clinical management of a patient with hereditary hemorrhagic telangiectasia (HHT) presenting with refractory gastrointestinal bleeding and severe anemia.

To present a case of a 26-year-old man with recurrent syncope and an unexpected diagnosis of pulmonary arterial hypertension (PAH) associated with pulmonary arteriovenous malformations (AVMs), suggesting a link to hereditary hemorrhagic telangiectasia (HHT).

To develop a microphysiological system (HHT-on-a-chip) that mimics vascular lesions observed in patients with Hereditary Hemorrhagic Telangiectasia (HHT) to enhance understanding of the disease mechanisms and potential treatments.

To characterize the cellular composition of the immune microenvironment in brain arteriovenous malformations (bAVMs) at single-cell resolution and identify immune cell populations associated with angiogenesis and extracellular matrix remodeling.

To evaluate the effective dose of intranasal bevacizumab for treating epistaxis in patients with Hereditary Hemorrhagic Telangiectasia (HHT).

To establish a comprehensive institutional and population-based registry for Haemorrhagic Hereditary Telangiectasia (HHT) to improve understanding of its epidemiology, risk factors, clinical presentation, and treatment outcomes.

To evaluate the effectiveness of doxycycline in reducing epistaxis severity in patients with hereditary hemorrhagic telangiectasia (HHT), with a focus on genotype-stratified responses (specifically active receptor-like kinase 1, endoglin, and SMAD4).

To evaluate the risk of postintervention hemorrhage following stereotactic radiosurgery (SRS) for cerebral arteriovenous malformations (AVMs) and to identify predictors of such events.