Clinical trials: Rare Disorders
Anemia
A Safety and Tolerability Study of AG-519 in Healthy Subjects
The purpose of the study is to investigate a drug called AG-519, which is being developed for the treatment of a disease called pyruvate kinase deficiency (also known as PK deficiency) and other forms of anemia.
- Trial name
- NCT02630927
- Testing
- AG-519
- Where
- United Kingdom
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- Agios Pharmaceuticals, Inc.
Familial Lipomatosis, Very Rare Dermatologic Diseases
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
- Trial name
- DERMA-SEQ (NCT02509650)
- Where
- 2 sites in France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Intellectual Disability
Genome Sequencing Strategies for Genetics Diagnosis of Patients With Intellectual Disability
Introduction : Intellectual Disability (ID) is the most common cause of referral in the pediatric genetic centers and is characterized by an extreme genetic heterogeneity corresponding to a myriad of rare diseases that…
- Trial name
- DEFIDIAG (NCT04154891)
- Testing
- Whole Genome Sequencing
- Where
- 14 sites in France
- Volunteers
- 3,825 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Newborn Screening
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
The main objective of the genetic newborn screening part of the Screen4Care-project is to shorten the path to rare disease diagnosis and to facilitate early intervention.
- Trial name
- SCREEN4CARE (NCT06549218)
- Testing
- newborn genetic screening and whole genome sequencing
- Where
- 8 sites in France, Germany and 1 more
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- University Hospital Freiburg
Urea Cycle Disorders
PCORI Urea Cycle Disorder Study
Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain.
- Trial name
- NCT02740153
- Testing
- No Intervention Given
- Where
- United States
- Volunteers
- 187 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
FTLD, Progressive Supranuclear Palsy (PSP)
Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL)
Frontotemporal Lobar Degeneration (FTLD) is the neuropathological term for a collection of rare neurodegenerative diseases that correspond to four main overlapping clinical syndromes: frontotemporal dementia (FTD), primary…
- Conditions
- FTLD, Progressive Supranuclear Palsy (PSP), Frontotemporal Dementia (FTD), Corticobasal Degeneration (CBD)
- Trial name
- ARTFL (NCT02365922)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,489 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Cystic Fibrosis
Study of Total Energy Expenditure in Infants and Children With Moderate to Severe Cystic Fibrosis
OBJECTIVES: I. Compare the resting energy expenditure using respiratory calorimetry in infants and children with moderate to severe cystic fibrosis versus age matched healthy controls. II.
- Trial name
- NCT00006273
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Rheumatic Diseases
Al to Improve the Diagnosis of Rare Rheumatic Diseases
This trial aims to assess the impact of providing medical students with access to ChatGPT, a state-of-the-art large language model, in comparison to conventional diagnostic decision support tools, on their diagnostic accuracy for…
- Trial name
- AIDRARER (NCT06748170)
- Testing
- ChatGPT
- Where
- Germany
- Volunteers
- 68 people, healthy volunteers welcome
- Sponsor
- Philipps University Marburg
ANCA-associated Vasculitis
Biocollection of Patients With ANCA Associated Vasculitis
As rare disease, vasculitis affects a small number of patients, the cohorts available in the literature are few and the pathophysiological mechanisms remain to be elucidated.
- Trial name
- ANCA (NCT05364892)
- Testing
- Blood samples (80 mL), Fecal samples, Urinary sample (20-40 mL)
- Where
- France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Hospital, Brest
Systemic Lupus, Autoimmune Diseases
Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases
Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood.
- Conditions
- Systemic Lupus, Autoimmune Diseases, Autoinflammatory Disease, Genetic Disease
- Trial name
- GENIALII (NCT06435468)
- Testing
- Blood sample for genetic analysis, Blood sample for immunological response assessments, Blood sample to identify relevant biomarker of the disease
- Where
- 13 sites in France
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Friedreich Ataxia
Digital Outcome Assessment Using AI Active Gaming and Motion Capture in Friedreich Ataxia
Friedreich ataxia (FA) is a rare, inherited condition that progressively affects balance, coordination, and walking. Clinical trials of new FA treatments rely largely on standard clinical rating scales, but these can be tiring…
- Trial name
- STEP-OUT FA (NCT07731971)
- Testing
- Laboratory validation session (VSimulator), Home-based active gaming assessment
- Where
- United Kingdom
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Exeter
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
Carotid Atherosclerosis, Myocardial Infarction
Comparison of Asymptomatic Carotid Atherosclerosis Between Frequent and Infrequent Blood Donors
Iron has been proposed to contribute to atherogenesis in humans by facilitating the oxidation of lipoproteins. This observational study will evaluate the association between frequency of blood donation - expected to be associated…
- Trial name
- NCT00001589
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- National Institutes of Health Clinical Center (CC)
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Diabetes Mellitus
Defining the Molecular and Physiological Mechanisms of Pancreatic Islet Cell Dysfunction Which Lead to Type 2 Diabetes
Defects in insulin secretion are central to the pathogenesis of type 2 diabetes (T2D) but the molecular basis and physiological consequences of those defects are poorly understood, impeding efforts to develop novel therapeutic…
- Trial name
- DIVA-Exeter (NCT02505308)
- Testing
- Glucose-Potentiated Arginine-Induced Insulin Secretion
- Where
- 2 sites in United Kingdom
- Volunteers
- 328 people, healthy volunteers welcome
- Sponsor
- Royal Devon and Exeter NHS Foundation Trust
Rare Diseases
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols.
- Trial name
- NCT04152876
- Where
- Italy
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Neuromed IRCCS
Neurofibromatosis 1, Noonan Syndrome
Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial
Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful.
- Conditions
- Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome
- Trial name
- NCT05361811
- Testing
- Waitlist, ACT Intervention
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Acromegaly
Measurement of Outcome of Surgical Treatment in Patients With Acromegaly
OBJECTIVES: I. Compare growth hormone (GH) levels at baseline and after glucose suppression measured with both a polyclonal radioimmunoassay and a highly sensitive immunoradiometric assay (IRMA) in patients with acromegaly and…
- Trial name
- NCT00005100
- Where
- United States
- Volunteers
- 165 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Inherited Hematological Diseases, Rare Diseases
Longitudinal Studies of Patient With FPDMM
Background: Genes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant in the gene RUNX1.
- Conditions
- Inherited Hematological Diseases, Rare Diseases, FPDMM
- Trial name
- NCT03854318
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Creation of an Italian Network of Biobanks of Rare Diseases
ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria
Rare diseases (RDs) have been defined by the European Union (EU) as life-threatening or chronically debilitating conditions affecting less than 1 person in 2000.
- Trial name
- SATELLITES (NCT06782230)
- Where
- Italy
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato