Clinical trials: Undiagnosed Conditions, active
Undiagnosed Disease, Rare Diseases
Rare and Undiagnosed Disease Research Biorepository
This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative…
- Trial name
- PRaUD (NCT04703179)
- Testing
- Genetic test evaluation
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Rare Disease, Undiagnosed Disease
EpiSign International: Expanding Epigenomic Testing in Rare Disease
The purpose of this study is to assess the utility of EpiSign software and an integrated DNA methylation and copy number variant (CNV) microarray technology in helping to diagnose individuals with rare diseases.
- Conditions
- Rare Disease, Undiagnosed Disease, Genetic Diseases, Inborn, Congenital Abnormalities
- Trial name
- NCT07839754
- Testing
- Integrated EPIC/CNV microarray with EpiSign analysis, EpiSign analysis with EPIC DNA methylation microarray
- Where
- United Kingdom
- Volunteers
- 192 people
- Sponsor
- University of Manchester
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
Undiagnosed Diseases, Cardiovascular Disease
Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)
Background: Studies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases.
- Trial name
- NCT02543996
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Structural Heart Abnormality, Valve Heart Disease
Capitalizing on AI to CapTure Undiagnosed Structural Heart Disease
Doctors are testing a new tool called EchoNext to see if it can help find heart problems earlier. EchoNext looks at the heart's electrical test, called an ECG, and uses artificial intelligence (AI) to check for signs of…
- Conditions
- Structural Heart Abnormality, Valve Heart Disease, Heart Diseases, Cardiovascular Diseases
- Trial name
- CACTUS (NCT07843004)
- Testing
- EHR Alert
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Pierre Elias
Rare Diseases, Genetic Disease
UW Undiagnosed Genetic Diseases Program
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through…
- Conditions
- Rare Diseases, Genetic Disease, Undiagnosed Disease
- Trial name
- NCT04586075
- Testing
- Trio Whole Genome Sequencing and Participant-Specific Research
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- University of Wisconsin, Madison
Myasthenia Gravis, Neuromuscular Disease
Validation and Scaling of Screening Program for Undiagnosed Myasthenia Gravis-Social Media Campaign Paired With a Self-moderated Assessment
This study expands and validates the pilot study NCT06381284. It is a fully remote, site-less, prospective, observational study enrolling adults in the United States (excluding U.S.
- Conditions
- Myasthenia Gravis, Neuromuscular Disease, Neuromuscular Manifestations
- Trial name
- NCT06866483
- Testing
- Social media recruitment, Self-Assessment, Follow-up
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- ZS Associates
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Barrett Esophagus, Esophageal Adenocarcinoma
Lucid Registry Study
This is a multicenter, prospective, observational study designed to capture a limited set of data consisting of diagnostic test results and clinical management information on subjects who undergo EC/EG to assess for the presence…
- Conditions
- Barrett Esophagus, Esophageal Adenocarcinoma, Barretts Esophagus With Dysplasia, Barrett's Esophagus Without Dysplasia
- Trial name
- Lucid Registry (NCT05965999)
- Testing
- EsoCheck®, EsoGuard®
- Where
- United States
- Volunteers
- 8,000 people
- Sponsor
- Lucid Diagnostics, Inc.
COVID-19, Long Haul
Covid-19 Long Haul Preventative and Health Promotion Care Clinical Trial Acceleration Program.
Investigators are conducting a study on alternative treatments for patients who have received an current or previous positive COVID-19 diagnosis with mild-serve symptoms or undiagnosable condition after testing positive for…
- Trial name
- NCT06441955
- Testing
- Ritonavir-Boosted Nirmatrelvir (Paxlovid), Physiological Evaluation, Moderna COVID-19 Vaccine
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Well- Konnect Healthcare Services and Research Firm
Multiple Sclerosis, Parkinson Disease
Gait and Balance Impairment in Rare and Very Rare Neurological Diseases
Rare and very rare neurological diseases primarily or exclusively affect the nervous system with a prevalence of < 5 out of 10'000 and 100'000 people, respectively.
- Conditions
- Multiple Sclerosis, Parkinson Disease, Peripheral Neuropathy, Rare Diseases
- Trial name
- GALVANISE (NCT06343558)
- Testing
- Questionnaires, clinical scales and instrumental tests
- Where
- 2 sites in Italy
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Istituto Auxologico Italiano
Undiagnosed Diseases, Genetic Diseases
The Mayo Clinic Rare and Undiagnosed Disease Hackathon
The purpose of this study is to create a Mayo Clinic biospecimen and data repository to support the evaluation of patients with rare and undiagnosed diseases through a structured, multidisciplinary diagnostic program.
- Conditions
- Undiagnosed Diseases, Genetic Diseases, Rare Diseases
- Trial name
- NCT07714161
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Mayo Clinic
COPD, Coronary Artery Calcification
Quebec Lung Cancer Screening PLUS Trial
Does an educational intervention for untreated COPD and cardiovascular disease which is integrated in an existing lung cancer screening program improve guideline concordant medication adherence at 12 months
- Trial name
- QLC+ (NCT05444062)
- Testing
- Educational material and treatment recommendations for patients, general practitioners and pharmacists
- Where
- Canada
- Volunteers
- 330 people
- Sponsor
- Nicole Ezer, MD, FRCPC, MPH
Genetic Disease
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown.
- Trial name
- NCT02450851
- Where
- 33 sites in United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Undiagnosed Diseases, Rare Diseases
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
Background: Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist.
- Trial name
- NCT06595940
- Where
- Mauritius
- Volunteers
- 400 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Lymphedema, Lower Limb, Lymphedema
Detecting the Undetected: Heart Failure Screening at the Lymphoedema Point of Care
Heart failure affects more people than the four most common cancers combined. When identified early, management is more straightforward, preventing complications, hospitalisations, and fatalities.
- Conditions
- Lymphedema, Lower Limb, Lymphedema, Heart Failure, Heart Failure (for Example, Fluid Overload)
- Trial name
- NCT07498868
- Where
- United Kingdom
- Volunteers
- 618 people
- Sponsor
- Swansea Bay University Health Board
Rare Genetic Disease, Undiagnosed Diseases
Research for Individualized Therapeutics in Rare Genetic Disease
The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.
- Trial name
- NCT05236595
- Testing
- Individualized drug matching per genetic disease
- Where
- 3 sites in United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Undiagnosed Disease
Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community
This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do population genetic studies looking at…
- Trial name
- NCT02927158
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
COPD, Asthma
Early Diagnosis and Treatment of Undiagnosed Asthma or COPD: THE UCAP 2 TRIAL
Our research group has found that Canadians with undiagnosed asthma or chronic obstructive pulmonary disease (COPD) have increased respiratory symptoms and worse health-related quality of life.
- Trial name
- UCAP2 (NCT06392776)
- Testing
- Early diagnosis and treatment
- Where
- 6 sites in Canada
- Volunteers
- 420 people
- Sponsor
- Ottawa Hospital Research Institute