Clinical trials: Undiagnosed Conditions
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)
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
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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
Chronic Obstructive Pulmonary Disease
Prevalence of Undiagnosed Chronic Obstructive Pulmonary Disease Sufferers in the Region of Murcia
The purpose of this study is determine the prevalence of undiagnosed Chronic Obstructive Pulmonary Disease (COPD) in population served and with exposure to cigarettes in the Region of Murcia
- Trial name
- NCT01380470
- Where
- Spain
- Volunteers
- 1,052 people, healthy volunteers welcome
- Sponsor
- Fundacion para la Formacion e Investigacion Sanitarias de la Region de Murcia
Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child)
Inherited Diseases, Caregiving, and Social Networks
Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of…
- Conditions
- Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child), Inherited Neurodegenerative Disorders, Inherited Metabolic Disorders (Inborn Errors of Metabolism)
- Trial name
- NCT01498263
- Where
- 2 sites in United States
- Volunteers
- 682 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Musculoskeletal Chest Pain, Non-cardiac Chest Pain
Treatment Study Comparing Manual Treatment or Advice in Acute, Musculoskeletal Chest Pain
Acute chest pain is a common cause of hospital admission. Active approaches are directed towards diagnosis and treatment of potentially life threatening conditions, especially acute coronary syndrome and coronary artery disease.
- Conditions
- Musculoskeletal Chest Pain, Non-cardiac Chest Pain, Undiagnosed Chest Pain
- Trial name
- CARPA (NCT00462241)
- Testing
- chiropractic treatment, Self-management
- Where
- Denmark
- Volunteers
- 115 people, healthy volunteers welcome
- Sponsor
- Clinical Locomotion Science
NAFLD, NASH - Nonalcoholic Steatohepatitis
A Self Selected Population Study of Undiagnosed NAFLD and NASH, Using an Echosens FibroScan, in at Risk Populations
Liver disease (NAFLD) and (NASH) are a rapidly increasing population health threat driven primarily by diet and lifestyle. Fibrotic liver disease, culminating in cirrhosis, is frequently asymptomatic so it is common for a patient…
- Conditions
- NAFLD, NASH - Nonalcoholic Steatohepatitis, Cirrhosis, Liver, Fatty Liver
- Trial name
- SUNN (NCT03726827)
- Testing
- Fibroscan screening
- Where
- United States
- Volunteers
- 1,006 people, healthy volunteers welcome
- Sponsor
- Fatty liver Foundation
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
Myasthenia Gravis, Neuromuscular Manifestations
Expediting Myasthenia Gravis (MG) Diagnostic Evaluation: A Novel, Proof-of-Concept for Undiagnosed, Symptomatic Patients That Uses Social Media Targeting and Self-Assessment
This is a fully remote, site-less, prospective, observational study enrolling adults in the United States (excluding U.S. territories) with undiagnosed neuromuscular symptoms.
- Conditions
- Myasthenia Gravis, Neuromuscular Manifestations, Neuromuscular Diseases
- Trial name
- NCT06381284
- Testing
- Social media recruitment, Self-Assessment, Follow-up
- Where
- United States
- Volunteers
- 215 people, healthy volunteers welcome
- Sponsor
- ZS Associates
Diabetes Mellitus, Type 2
Screening for Undiagnosed Type 2 Diabetes in New Classes of Subjects at High Risk
The study aims to evaluate IFG, IGT or unknown type 2 diabetes mellitus in new classes at high risk to develop alterations of glucose metabolism and definition of new pathogenic mechanisms of insulin resistance and…
- Trial name
- NCT00520962
- Where
- Italy
- Volunteers
- 1,997 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
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
Chronic Obstructive Pulmonary Disease (COPD)
Developing a COPD Case Finding Methodology for Primary Care
The purpose of this qualitative work is to inform the content and structure of a new screening measure for identifying undiagnosed at-risk COPD cases in primary care and support content validity of the measure.
- Trial name
- NCT01880177
- Where
- 4 sites in United States
- Volunteers
- 346 people, healthy volunteers welcome
- Sponsor
- University of Michigan
HIV, HIV Self-testing
Our Healthbox - Evaluating Interactive Dispensing Systems for Low-Barrier Access to HIV Testing and Harm Reduction.
When REACH Nexus at MAP Centre for Urban Solutions out of St. Michael's Hospital launched its signature program, I'm Ready in 2021, our goal was to democratize access to free HIV self-testing to reach the undiagnosed in Canada.
- Conditions
- HIV, HIV Self-testing, Harm Reduction, Sexually Transmitted Diseases
- Trial name
- NCT05516069
- Testing
- Our Healthbox (smart vending machine or interactive dispensing system)
- Where
- Canada
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Unity Health Toronto
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
Obstructive Sleep Apnea
The Incidence of Undiagnosed OSA Compared in Multi-ethic Races of Malaysia & the Associated Postoperative Complications
Obstructive sleep apnoea (OSA) is a condition in which a person's sleep is disrupted with momentary periods of apnoea and hypopnoea. This occurs when there is a blockage to airflow.
- Trial name
- NCT02127099
- Where
- Malaysia
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- University of Malaya
Respiratory Symptoms
Belgian Pulmonary Function Study
Pulmonary function tests including spirometry, lung volumes, measurements of resistance and diffusing capacity are essential in the diagnosis of several pulmonary diseases.
- Trial name
- BPFS (NCT01297881)
- Where
- Belgium
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Marc Decramer
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
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, 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)