Clinical trials: Hereditary Diseases
Intellectual Disabilities, Congenital Anomaly
Genome Medical Sequencing for Gene Discovery
Background: A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown.
- Conditions
- Intellectual Disabilities, Congenital Anomaly, Rare Disorders
- Trial name
- NCT01087320
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Charcot Marie Tooth Disease
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C…
- Trial name
- INC-6601 (NCT01193075)
- Where
- 24 sites in United States, Australia and 4 more
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Michael Shy
No Evidence of Disease, BRCA1 Syndrome
Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian Cancer
This pilot clinical trial studies a culturally-informed counseling intervention in Latinas at high risk for hereditary breast or ovarian cancer.
- Conditions
- No Evidence of Disease, BRCA1 Syndrome, BRCA2 Syndrome, Hereditary Female Breast Carcinoma
- Trial name
- NCT01230346
- Testing
- questionnaire administration, survey administration, counseling intervention
- Where
- 3 sites in United States
- Volunteers
- 493 people, healthy volunteers welcome
- Sponsor
- City of Hope Medical Center
Homozygous Familial Hypercholesterolemia
Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia
This study will evaluate the efficacy and safety of zodasiran subcutaneous (sc) injection in participants 12 to <18 years of age with genetically or clinically diagnosed homozygous familial hypercholesterolemia (HoFH) and…
- Trial name
- SPRUCE (NCT07473843)
- Testing
- Zodasiran
- Where
- 3 sites in United States, Denmark and 1 more
- Volunteers
- 10 people
- Sponsor
- Arrowhead Pharmaceuticals
Hereditary Hemorrhagic Telangiectasia (HHT), Osler Weber Rendu Disease
Harmony-HHT: ATV-1601 in Participants With Hereditary Hemorrhagic Telangiectasia (HHT)
This is a 2-part study evaluating ATV-1601 in participants with moderate to severe HHT. Part 1 is a randomized, double-blind, placebo-controlled study evaluating 3 dosing regimens of ATV-1601.
- Trial name
- NCT07601425
- Testing
- ATV-1601
- Where
- 7 sites in United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Atavistik Bio, Inc
Thyroid Eye Disease (TED), Graves' Disease
Evaluation of ETHY-001 for Safety, Tolerability, and Clinical Activity in Thyroid Eye Disease
The primary objective of study is to investigate the safety, tolerability, pharmacokinetics, and pharmacodynamics of ETHY-001 in healthy volunteers and participants with Thyroid Eye Disease after single subcutaneous doses.
- Conditions
- Thyroid Eye Disease (TED), Graves' Disease, Eye Diseases, Hereditary, Eye Diseases
- Trial name
- NCT07885605
- Testing
- ETHY-001
- Where
- 3 sites in United States
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Ethyreal Bio, Inc.
Heterozygous Familial Hypercholesterolemia (HeFH)
EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C)
A phase 1/2, two-part trial consisting of an open label dose-escalation part and a randomized, double blind, placebo-controlled part to investigate safety, tolerability, pharmacokinetics, and efficacy with EDIT-401 gene editing…
- Trial name
- NCT07894887
- Testing
- Drug: EDIT-401
- Where
- 2 sites in Australia
- Volunteers
- 56 people
- Sponsor
- Editas Medicine, Inc.
Ischemic Optic Neuropathy, Optic Neuritis
Diffusion Weighted Magnetic Resonance Imaging and the Optic Nerve Neuropathy.
The aim of the project is to create a new, non-invasive and safe protocol for the early diagnosis of various types of optic neuropathies with the use of diffusion magnetic resonance imaging
- Conditions
- Ischemic Optic Neuropathy, Optic Neuritis, Compressive Optic Neuropathy, Traumatic Optic Neuropathy
- Trial name
- NCT05353413
- Testing
- Neuroimaging, VEP - visual evoked potential, Ophthalmology examination.
- Where
- Poland
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Medical University of Bialystok
Motor Neuron Diseases, Spinocerebellar Ataxias
Rare Disease Registry Database for Movement Disorders in Southern Anhui Province
According to the World Health Organization (WHO) definition, a rare disease is a disease affecting fewer than 6.5 people per 10,000; in China, it generally refers to diseases with a prevalence of less than 1/10,000 (i.e., with a…
- Conditions
- Motor Neuron Diseases, Spinocerebellar Ataxias, Hereditary Muscular Dystrophy, Hereditary Spastic Paraplegia
- Trial name
- W-MoSCA (NCT07838883)
- Where
- China
- Volunteers
- 180 people
- Sponsor
- First Affiliated Hospital of Wannan Medical College
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
Leber Congenital Amaurosis 10, Blindness
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A>G…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders
- Trial name
- HYPERION (NCT06891443)
- Testing
- sepofarsen
- Where
- 18 sites in United States, Australia and 8 more
- Volunteers
- 32 people
- Sponsor
- Laboratoires Thea
Charcot-Marie-Tooth Disease, Type Ia (Disorder), HMSN
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
- Trial name
- INC-6602 (NCT01193088)
- Where
- 24 sites in United States, Australia and 4 more
- Volunteers
- 1,050 people, healthy volunteers welcome
- Sponsor
- University of Iowa
Recurrent Glioblastoma Multiforme, Primary Glioblastoma Multiforme
A Study to Assess the Safety and Tolerability of AZD1390 Given With Radiation Therapy in Patients With Brain Cancer
This study will test an investigational drug called AZD1390 in combination with radiation therapy for the treatment of brain tumors. This is the first time AZD1390 is being given to patients.
- Conditions
- Recurrent Glioblastoma Multiforme, Primary Glioblastoma Multiforme, Brain Neoplasms, Malignant, Leptomeningeal Disease (LMD)
- Trial name
- NCT03423628
- Testing
- Radiation Therapy, AZD1390
- Where
- 11 sites in United States, Japan and 1 more
- Volunteers
- 159 people
- Sponsor
- AstraZeneca
Pancreatic Ductal Adenocarcinoma, Hereditary Diseases
Pancreatic Cancer Screening in a Population at High Risk
Pancreatic cancer is one of the diseases with the worst prognosis, which is mainly due to the initial asymptomatic prognosis. Unfortunately, the incidence of this disease in the Czech Republic is still increasing.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Hereditary Diseases, Pancreatitis, Chronic
- Trial name
- ScrePan (NCT06330441)
- Testing
- endoscopic ultrasonography, magnetic resonance, laboratory examination
- Where
- Czechia
- Volunteers
- 700 people
- Sponsor
- Masaryk Memorial Cancer Institute
Familial Mediterranean Fever (FMF), Autoinflammation
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases.
- Conditions
- Familial Mediterranean Fever (FMF), Autoinflammation, Periodic Fever, Fever
- Trial name
- NCT00001373
- Where
- 5 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Advanced Solid Tumors, Advanced Breast Cancer
Phase 1/2 Study of ETX-636 in Participants With Advanced Solid Tumors
Phase 1/2, open-label study of ETX-636 in participants with advanced solid tumors
- Trial name
- NCT06993844
- Testing
- ETX-636 dose escalation, ETX-636 dose escalation in combination with fulvestrant, ETX-636 dose expansion in combination with fulvestrant
- Where
- 15 sites in United States, China
- Volunteers
- 233 people
- Sponsor
- Ensem Therapeutics
Muscular Dystrophies, Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy)
A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping
A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1044 for the treatment of Duchenne Muscular Dystrophy (DMD) with Gene Mutations Amenable to Exon 44 Skipping
- Conditions
- Muscular Dystrophies, Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy), Muscular Disorders, Atrophic, Muscular Disease
- Trial name
- SAFARI44 (NCT07587242)
- Testing
- AOC 1044
- Where
- 18 sites in Australia, Belgium and 6 more
- Volunteers
- 70 people
- Sponsor
- Avidity Biosciences, Inc.
Pulmonary Arterial Hypertension (PAH), Pulmonary Hypertension, Interstitial Lung Disease
A Study of ROC-101 in Patients With Pulmonary Arterial Hypertension (PAH) and Pulmonary Hypertension Associated With Interstitial Lung Disease (ILD-PH) (ROCSTAR STUDY)
This study evaluates the effect of ROC-101 in adults with either Pulmonary Arterial Hypertension (PAH) or Pulmonary Hypertension Associated with Interstitial Lung Disease (ILD-PH).
- Trial name
- ROCSTAR (NCT07175038)
- Testing
- ROC-101
- Where
- 24 sites in United States, Australia and 7 more
- Volunteers
- 40 people
- Sponsor
- AllRock Bio, Inc.
Liver Allograft, Liver Diseases
Everolimus bAsed caLcineurin inhibiTor frEe immunosuppRession oNe Year AfTer lIver transplantatiON (ALTERNATION)
The overall aim of this study is nephroprotection based on a calcineurin inhibitor (CNI)-free therapy beyond year one after orthotopic liver transplantation (OLT) in highly pre-selected patients with low rejection risk.
- Conditions
- Liver Allograft, Liver Diseases, Liver Transplantation
- Trial name
- ALTERNATION (NCT07739914)
- Testing
- Everolimus, Tacrolimus or Cyclosporine
- Where
- 16 sites in Germany
- Volunteers
- 150 people
- Sponsor
- Hannover Medical School
Genetic Predisposition to Disease, Hereditary Diseases
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks.
- Trial name
- NCT05161169
- Testing
- Genome Sequencing
- Where
- 3 sites in United States
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital