Clinical trials: Hereditary Disease
Hereditary Hemorrhagic Telangiectasia (HHT), Rendu Osler Disease
IV Bevacizumab Treatment of Patients With Hereditary Hemorrhagic Telangiectasia (HHT) or Rendu-Osler (RO) Disease: A Retrospective Analysis of French Cohort Data From 2009 to 2024
Rendu-Osler disease (RO), also known as Hereditary Haemorrhagic Telangiectasia (HHT), is an autosomal dominant genetic disorder. Its pathophysiology is associated with an imbalance in angiogenic balance.
- Trial name
- CoBé (NCT07772050)
- Testing
- Real World data study.
- Where
- France
- Volunteers
- 244 people
- Sponsor
- Hospices Civils de Lyon
GNE Myopathy, Hereditary Inclusion Body Myopathy
International GNE Myopathy Patient Registry
GNE myopathy, an ultra-rare disease, is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle…
- Trial name
- NCT04009226
- Testing
- Patient Registry
- Where
- United Kingdom
- Volunteers
- 430 people
- Sponsor
- Newcastle University
Cancer Risk, Cancer Predisposition Syndrome
InAdvance: Surveillance, Prevention, and Interception in a Population at Risk for Cancer
This research study is creating a way to collect and store specimens and information from participants who may be at an increased risk of developing cancer, or has been diagnosed with an early phase of a cancer or a family member…
- Conditions
- Cancer Risk, Cancer Predisposition Syndrome, Hereditary Cancer Prediction, Childhood Cancer Survivors
- Trial name
- NCT05463796
- Testing
- Samples
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Dana-Farber Cancer Institute
Sickle Cell Disease, Sickle Cell Anaemia
Efficacy and Safety of SIL-8301 for Control of Hemolysis in a Uniform Sickle Cell Disease Endotype
SIL-8301 (senicapoc) is being developed for the chronic treatment of patients with sickle cell disease in both adults and children.
- Conditions
- Sickle Cell Disease, Sickle Cell Anaemia, Sickle Cell Anemia
- Trial name
- RESCUE (NCT07282210)
- Testing
- Senicapoc
- Where
- 4 sites in Canada
- Volunteers
- 105 people
- Sponsor
- Biossil Inc.
Parkinson Disease, Hereditary Spastic Paraparesis
Enhancement of Quality of Work And Life
Work participation is essential for quality of life, providing purpose, social interaction, financial security, and shaping social status.
- Conditions
- Parkinson Disease, Hereditary Spastic Paraparesis, Cerebellar Ataxia, Mitochondrial Diseases
- Trial name
- EQuAL (NCT06573866)
- Testing
- Preventive Participatory workplace intervention
- Where
- Netherlands
- Volunteers
- 124 people
- Sponsor
- Radboud University Medical Center
Transthyretin (TTR) Amyloid Cardiomyopathy, Cardiac Amyloidosis
Liver and Coagulation Disorders in Cardiac Transthyretin Amyloidosis
Transthyretin cardiac amyloidosis (ATTR-CA) is a progressive infiltrative cardiomyopathy caused by the deposition of misfolded transthyretin protein within the myocardium.
- Conditions
- Transthyretin (TTR) Amyloid Cardiomyopathy, Cardiac Amyloidosis, Cardiomyopathies, Wild-Type Transthyretin Cardiac Amyloidosis
- Trial name
- LICA2025 (NCT07766135)
- Where
- Italy
- Volunteers
- 70 people
- Sponsor
- University of Messina
Periodontal Disease, Gingivitis and Periodontal Diseases
Hippo Signaling Pathway Proteins in Gingival Crevicular Fluid of Individuals With Periodontal Disease
Periodontal disease is a chronic inflammatory condition of the tooth-supporting tissues in which the host inflammatory response drives the destruction of alveolar bone and periodontal attachment.
- Conditions
- Periodontal Disease, Gingivitis and Periodontal Diseases, Biomarker Discovery and Validation, Pathways
- Trial name
- BYHN-GCF-HIPPO (NCT07759466)
- Testing
- ELISA Biomarker Analysis
- Where
- Turkey (Türkiye)
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Inonu University
Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial
To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
The AG10-504 study is an open-label extension study of acoramidis in participants with newly diagnosed transthyretin amyloid cardiomyopathy (ATTR-CM) or both ATTR-CM and transthyretin amyloid polyneuropathy (ATTR-PN).
- Conditions
- Amyloidosis in Transthyretin (TTR), Amyloidosis, Familial, Amyloid Cardiomyopathy, Amyloid Cardiomyopathy, Transthyretin-Related
- Trial name
- NCT07116473
- Testing
- Acoramidis (AG10)
- Volunteers
- 250 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Amyloidosis, Amyloid Cardiomyopathy
Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
Transthyretin amyloidosis (ATTR) is a disease where the normally occurring transthyretin (TTR) protein falls apart and forms amyloid, a sticky plaque-like substance that accumulates in different organs in the body and can cause…
- Conditions
- Amyloidosis, Amyloid Cardiomyopathy, Transthyretin Amyloidosis, Cardiomyopathies
- Trial name
- NCT06563895
- Testing
- Acoramidis
- Where
- 104 sites in United States, Argentina and 22 more
- Volunteers
- 587 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM), Amyloidosis
Cardiac Magnetic Resonance and Echocardiography Study With Acoramidis
The study aims to evaluate the effect of acoramidis on cardiac functional and structural improvement in participants with ATTR-CM.
- Conditions
- Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM), Amyloidosis, Amyloid Cardiomyopathy, Transthyretin Amyloidosis
- Trial name
- ASCEND-ATTR (NCT07695701)
- Testing
- Acoramidis (AG10) oral tablet
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Hereditary Diseases, Critical Illness
UW ISeqU: Clinical Impact of Whole-genome Sequencing in Adults
The goal of this study is to learn how clinical whole genome sequencing can help identify diagnoses and guide medical care in adults.
- Trial name
- NCT07718971
- Testing
- Genome sequencing
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- University of Washington
Hereditary Hemorrhagic Telangiectasia, Rendu Osler Disease
Prospective Study of Antiplatelet and Anticoagulation Therapy in Hereditary Haemorrhagic Telangiectasia
The goal of this clinical trial is to evaluate in real life, in patients with Hereditary Hemorrhagic Telangiectasia (HHT), the tolerance of the strategy of use of anticoagulant and/or antiplatelet, by comparing a new exposure…
- Trial name
- PROPLACO-Tel (NCT05641142)
- Testing
- monitoring the use of anticoagulant and/or antiplatelet therapy in patients with osler rendering disease
- Where
- 18 sites in France
- Volunteers
- 100 people
- Sponsor
- University Hospital, Clermont-Ferrand
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2b study is to evaluate the safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- LUNA (NCT06627179)
- Testing
- Intravitreal Injection of Ultevursen, No intervention, will not receive any active study intervention
- Where
- 26 sites in United States, Belgium and 8 more
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Rett Syndrome
A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)
The primary objectives of this study are to evaluate the safety of a single intrathecal (IT) dose of TSHA-102 in females with typical Rett syndrome, to select the TSHA-102 dose with the best benefit/risk profile based on the…
- Trial name
- NCT05606614
- Testing
- TSHA-102
- Where
- 9 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Taysha Gene Therapies, Inc.
Breast Cancer, Solid Tumors, Adult
First-in-Human Study of Tersolisib (STX-478) as Monotherapy and in Combination With Other Antineoplastic Agents in Participants With Advanced Solid Tumors
Study STX-478-101 (LY4064809) is a multipart, open-label, phase 1/2 study evaluating the safety, tolerability, pharmacokinetics (PK), and preliminary antitumor activity of STX-478 (LY4064809) in participants with advanced solid…
- Trial name
- PIKALO-1 (NCT05768139)
- Testing
- STX-478, Fulvestrant, Ribociclib
- Where
- 65 sites in United States, Belgium and 7 more
- Volunteers
- 880 people
- Sponsor
- Eli Lilly and Company
Pediatric Hereditary Kidney Diseases
The Efficacy and Safety of Dapagliflozin in the Treatment of Hereditary Kidney Disease With Proteinuria in Children
This study is a multicenter, randomized controlled crossover trial aimed to evaluate the efficacy and safety of dapagliflozin in the treatment of hereditary kidney disease with proteinuria in children
- Trial name
- NCT06890143
- Testing
- Dapagliflozin+Standard Treatment for 12 weeks,washout period for 4 weeks，then Standard Treatment alone for12 weeks, Standard Treatment alone for 12 weeks ,washout period for 4 weeks ,then Dapagliflozin+Standard Treatment for 12 weeks
- Where
- China
- Volunteers
- 44 people
- Sponsor
- Children's Hospital of Fudan University
OPMD, Oral Cancer , Oral Squamous Cell Carcinoma, Oral Cavity Cancer
The Importance of Mucosal Screening in the Prevention of Oral Cancer.
Patients attending the Department of Oral Mucosal and Periodontal Diseases at the University Dental Center of the Medical University of Warsaw who provide written informed consent will be invited to participate in the study.
- Conditions
- OPMD, Oral Cancer , Oral Squamous Cell Carcinoma, Oral Cavity Cancer, Oral Potentially Malignant Lesions, Leukoplakia Oral
- Trial name
- NCT07682883
- Testing
- Fluorescent oral examination (FOE), Conventional oral examination
- Where
- Poland
- Volunteers
- 1,383 people, healthy volunteers welcome
- Sponsor
- Medical University of Warsaw
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Retinal Disease, Age-Related Macular Degeneration
Stem Cell Ophthalmology Treatment Study II
This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease.
- Conditions
- Retinal Disease, Age-Related Macular Degeneration, Retinitis Pigmentosa, Stargardt Disease
- Trial name
- SCOTS2 (NCT03011541)
- Testing
- Arm 1
- Where
- 4 sites in United States, Austria and 1 more
- Volunteers
- 500 people
- Sponsor
- MD Stem Cells
Periodontal Disease, Periodontitis
Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)
This study aims to evaluate the burden and phenotypic spectrum of periodontal disease in patients with rare kidney disorders (such as Alport syndrome, Fabry disease, and tuberous sclerosis complex) and systemic lupus…
- Conditions
- Periodontal Disease, Periodontitis, CKD, Chronic Kidney Disease
- Trial name
- PERIO-RA-RE (NCT07575347)
- Testing
- Observational assessment
- Where
- Romania
- Volunteers
- 100 people
- Sponsor
- Stefan Lujinschi