Clinical trials: Rare Disorders
Parkinson Disease
Assessing the Polygenic Burden of Rare Disruptive Mutations in Parkinson's Disease
The project intends to assess the polygenic burden of rare disruptive mutations in Parkinson's disease (PD) and how they influence the phenotype/pathological heterogeneity of disease.
- Trial name
- NCT04620980
- Testing
- targeted resequencing
- Where
- Italy
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Neuromed IRCCS
Pulmonary Hypertension
Registration Study for Rare Type of Pulmonary Hypertension
The knowledge on the rare type of pulmonary hypertension which can not be explained by left heart disease, respiratory disease or congenital heart disease is very limited.
- Trial name
- NCT03169010
- Testing
- laboratory biomarker analysis, Genetic analysis
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- China National Center for Cardiovascular Diseases
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)
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
Neurosensory Diseases, Retinopathy
Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing
Next Generation Sequencing (NGS) strategy is a powerful tool to identify genes implicated in very rare diseases for which the previous genetic explorations remain negative to date.
- Conditions
- Neurosensory Diseases, Retinopathy, Hearing Loss
- Trial name
- GEN-NEUROSENS (NCT02558478)
- Testing
- blood sampling
- Where
- France
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Skin Diseases, Penile Diseases
Rare Benign Lesion of Peins
PEKMB was first named and described by Lortat-Jacob \& Civatte in 1961 and by Bart \& Kopf later. This rare condition is mostly reported in elderly males. The keratotic scales is usually micaceous and resembles psoriasis.
- Trial name
- NCT04725292
- Where
- Egypt
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Assiut University
Pseudohypoaldosteronism Type 1
Cardiovascular Evaluation of Adult PHA 1 Patients
Vascular and cardiac alterations are associated with aldosterone effects are evidenced in experimental models and aldosterone receptor blockade is of clear benefit in cardiac disease (heart failure).
- Trial name
- PHACARV (NCT00646828)
- Where
- France
- Volunteers
- 98 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Baker Gordon Syndrome, Rare Neurodevelopmental Conditions
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity.
- Conditions
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder
- Trial name
- NCT07329257
- Testing
- No Intervention: Observational Cohort
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Hereditary Multiple Osteochondromas
Functional and Morphological Characterization of Multiple Osteochondromas Disorder
The main purpose of the study is the characterization of functional and morphological alterations due to multiple osteochondromas in a pediatric and adult population through the identification of relevant anthropometric and…
- Trial name
- MAMBO (NCT06703736)
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Istituto Ortopedico Rizzoli
Myopericytoma
MIYOPERİCYTOMA OF ORAL MUCOSE: CASE REPORT
Miyopericytoma (MPC) is defined as a benign tumor consisting mostly of oval-spindle-shaped myoid-appearing cells with perivascular growth.
- Trial name
- NCT05126420
- Testing
- biopsy
- Where
- Turkey (Türkiye)
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Ankara University
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
Insomnia, Sleeplessness
Evaluation of Vestibular Stimulation to Help Occasional Sleeplessness
The purpose of this study is to determine whether a small electrical current to the vestibular nerve (balance organ) will decrease the time it take for participants to fall asleep.
- Conditions
- Insomnia, Sleeplessness, Transient Insomnia
- Trial name
- VSOM (NCT00594022)
- Testing
- Electric stimulation of the Vestibular Nerve - "VirtuSom"
- Where
- 6 sites in United States
- Volunteers
- 349 people, healthy volunteers welcome
- Sponsor
- Philips Respironics
Usher Syndrome, Retinitis Pigmentosa
Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome
OBJECTIVES: I. Examine the concentration of docosahexanoic acid (DHA) and other n-3 fatty acids in plasma, erythrocyte, and adipose tissue in patients with various forms of retinitis pigmentosa and Usher syndrome. II.
- Trial name
- NCT00004345
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Lipid Metabolism, Inborn Errors, Sitosterolemia
Genetic Study of Sitosterolemia
OBJECTIVES: I. Identify the genetic defect and fine map the gene that causes sitosterolemia.
- Trial name
- NCT00004481
- Testing
- genetic testing
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Rare Diseases, Ophthalmology
Identification of Cellular Biomarkers of Rare Eye Diseases in Adults
The cornea is the outermost transparent 'window' of the eye allowing light to enter and serving as the first-line immune and mechanical barrier.
- Trial name
- REVIBIO (NCT07063719)
- Testing
- Ophthalmological visit, Questionnaires, Blood sample collection
- Where
- 2 sites in France
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Rare Diseases
Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas
The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border.
- Trial name
- MAGNET (NCT07102966)
- Testing
- Rapid whole genome sequencing
- Where
- United States
- Volunteers
- 410 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Inborn Errors of Metabolism, Rare Diseases
Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases
The primary goal of this study is to establish a biobank of dried blood spots and urines from a large control cohort and collect several cohorts as large as possible of patients affected or suspected of being affected by rare…
- Trial name
- BUSARD (NCT06360913)
- Testing
- High resolution mass spectrometry
- Where
- 4 sites in Belgium
- Volunteers
- 2,286 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Turner's Syndrome
Effect of Estrogen on Mental and Social Functioning in Girls With Turner's Syndrome
RATIONALE: Turner's syndrome is a disease in which females are missing all or part of one X chromosome and do not produce estrogen. Giving estrogen is standard treatment for girls who have Turner's syndrome.
- Trial name
- NCT00004274
- Testing
- Estrogen
- Where
- United States
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Respiratory Distress Syndrome
Study of Energy Requirements in Critically Ill Newborns
OBJECTIVES: I. Determine the total energy expenditure in term and preterm infants in both well and ill states using the doubly labeled water method.
- Trial name
- NCT00006274
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)