Clinical trials: Rare Disorders
Inflammatory, Interstitial, Rare Lung Diseases
The Study Of Probe-Based Confocal Laser Endomicroscopy Of Distal Airways In Diagnostics Of Lung Diseases
The study is devoted to the comparative analysis of the data received in patients with lung pathology using new method of probe-based confocal laser endoscopy of distal airways and two reference methods: high resolution computed…
- Trial name
- pCLE (NCT02006940)
- Testing
- miniprobe Alveoflex
- Where
- Russia
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Federal Research Clinical Center of Federal Medical & Biological Agency, Russia
Osteogenesis Imperfecta, Rare Bone Disorders
Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through…
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked
- Trial name
- MOSAIC (NCT07666269)
- Testing
- intra-oral 3D optical impression
- Where
- France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Siderosis, Neurological Disorder
Audiovestibular Function in Infratentorial Superficial Siderosis
One in six people in the United Kingdom and over 400 million people worldwide have disabling hearing loss. This figure will double by 2050 as predicted by the World Health Organisation.
- Conditions
- Siderosis, Neurological Disorder, Rare Diseases, Age Related Hearing Loss
- Trial name
- AViSS (NCT04200664)
- Testing
- Hearing assessment, Vestibular/balance assessment, Quality of life assessment
- Where
- 2 sites in United Kingdom
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- University College, London
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)
HSCT, Respiratory
Assessing Pulmonary Changes in HSCT
This will be an un-blinded, open-label study of children and adults, including those who are being evaluated for or who have undergone HSCT, those with existing respiratory conditions and/or diagnosed gas-exchange impairment, and…
- Conditions
- HSCT, Respiratory, Gas Exchange Impairment
- Trial name
- NCT07823036
- Testing
- Hyperpolarized 129 Xenon
- Where
- United States
- Volunteers
- 550 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
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.
Multiple Sclerosis
Diagnostic Study of Quantitative Imaging and Spectroscopy in Patients With Multiple Sclerosis
OBJECTIVES: I. Determine by quantitative magnetic resonance imaging measurements the change in the total volume of brain parenchyma as well as its gray and white matter, T2 and enhanced T1 lesion volume, and the magnetization…
- Trial name
- NCT00006060
- Testing
- standard gadolinium contrast
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Myotonic Muscular Dystrophy
Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy
OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM. II. Characterize the insulin resistance in these patients.
- Trial name
- NCT00004769
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Rare Fetal Genetic Diseases, Congenital Malformation
Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset
It is necessary to define reference DNA Methylation Episignatures from fetal DNA. The hypotheses are: It is possible to define reference DNA Methylation Episignatures from fetal DNA extracted from amniotic fluid or frozen tissues…
- Trial name
- FOETEPISIGN (NCT06475651)
- Testing
- Methylation analysis
- Where
- France
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Sudden Infant Death Syndrome, Apnea
Incidence and Severity of Cardiorespiratory Events in Infants at Increased Epidemiological Risk for Sudden Infant Death Syndrome (SIDS)
OBJECTIVES: I. Assess and compare the incidence and severity of cardiorespiratory events documented by home monitoring in infants at increased epidemiological risk for sudden infant death syndrome (SIDS). II.
- Trial name
- NCT00004392
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Early Onset Genetic Conditions With Near Complete Penetrance
Genomic Uniformed-Screening Against Rare Disease In All Newborns
The goal of this study is to learn how genomic sequencing technology can be used to effectively expand the conditions screened on newborn screening.
- Trial name
- GUARDIAN (NCT05990179)
- Testing
- Genome sequencing-based newborn screening
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
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
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
Cystic Fibrosis, Hemophilia A
Medication Adherence and Non-adherence in Adults With Rare Disease
The purpose of this study is to use the Medication Adherence Reasons Scale (MAR-Scale) to determine the extent of non-adherence to specific medications indicated to treat cystic fibrosis, hemophilia (A or B), idiopathic pulmonary…
- Conditions
- Cystic Fibrosis, Hemophilia A, Hemophilia B, Idiopathic Pulmonary Fibrosis
- Trial name
- NCT04541875
- Testing
- MAR-Scale
- Volunteers
- healthy volunteers welcome
- Sponsor
- Xperiome
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Neuromyelitis Optica, Neuromyelitis Optica Spectrum Disorder
The Longitudinal CONQUER Study of Rare Neuroimmunologic Disorders
This study seeks to determine the biologic causes of inflammation in patients with Transverse Myelitis (TM) Neuromyelitis Optica Spectrum Disorder (NMOSD) and related conditions.
- Conditions
- Neuromyelitis Optica, Neuromyelitis Optica Spectrum Disorder, Transverse Myelitis, Optic Neuritis
- Trial name
- NCT01623076
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Parkinson Disease
Quantification Tools for a Novel Tau PET Marker in a Rare Neurological Disease: 18F-PI-2620 in Progressive Supranuclear Palsy
The aim of this clinical trial is to explore the potential of novel 2nd generation tau PET radiotracers as biomarkers in cases suggestive of progressive supranuclear palsy (PSP), an atypical form of parkinsonism.
- Trial name
- Quanti-TAU-PET (NCT07105384)
- Testing
- Radiotracer
- Where
- Spain
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- Fundacion Clinic per a la Recerca Biomédica
Cannabis
A Study of Inhaled Cannabidiol in Healthy Occasional Cannabis Users
The purposes of this study are 1) to determine if the administration of different low doses of CBD (5 mg, 20 mg, 50 mg and 100 mg) result in detectable subjective pleasant drug effect compared to placebo and 2) to qualitatively…
- Trial name
- NCT05320367
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Centre hospitalier de l'Université de Montréal (CHUM)
Diabetes Mellitus, Monogenic Diabetes
Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
This observational 'recruit by genotype' study aims to provide insights into the cellular and molecular pathways underlying beta cell disorders and their physiological consequences.
- Conditions
- Diabetes Mellitus, Monogenic Diabetes, Hyperinsulinism
- Trial name
- ENDURE (NCT06478121)
- Testing
- Data and Blood collection, MRI
- Where
- United Kingdom
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Erectile Dysfunction
The Effects of a Nitrate Supplementation on Erectile Function
Twenty (20) individuals to be recruited from Ballantyne Medical Associates in Charlotte, NC, without any significant chronic medical history. These patients are general patients for primary care that meet inclusion criteria.
- Trial name
- NCT06213077
- Testing
- Nitric Oxide, Tadalafil
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- RHA Investments Ltd