Clinical trials: Rare Disorders
Rare Diseases
A Study to Evaluate Emapalumab in Japanese Healthy Volunteers.
This is a randomized, placebo controlled and double-blinded study to evaluate the pharmacokinetics (PK), pharmacodynamics (PD) and safety of a single dose (1 mg/kg) of emapalumab in adult healthy Japanese subjects.
- Trial name
- NCT04765553
- Testing
- NI-0501, Saline
- Where
- Japan
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Swedish Orphan Biovitrum
Peripartum Cardiomyopathy
Creation of a Multicenter National Registry for Peripartum Cardiomyopathy.
Peripartum cardiomyopathy (PPCM) is a rare, severe and potentially life-threatening disorder of largely unknown etiology and pathophysiology, with unexplained geographical differences and heterogeneous presentation.
- Trial name
- PPCMREGISTRY (NCT05878041)
- Testing
- Molecular and genetic screening
- Where
- Italy
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Federico II University
Huntington's Disease
Long-Term Study of Cerebral Glucose Metabolism in Huntington's Disease
OBJECTIVES: I. Correlate clinical outcome with cerebral glucose metabolism in patients with Huntington's disease (HD) and their at-risk relatives. II.
- Trial name
- NCT00004753
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Hemolytic-Uremic Syndrome, Membranoproliferative Glomerulonephritis
New Analytic Tools for aHUS and C3G Diagnosis
This protocol is part of a larger project, COMPRare (COMPlement-mediated Rare kidney diseases), which has been financed on behalf of the EJP RD (European Joint Programme on Rare Diseases) program of EU and is leaded by a…
- Conditions
- Hemolytic-Uremic Syndrome, Membranoproliferative Glomerulonephritis, Healthy
- Trial name
- COMPRare (NCT05985122)
- Testing
- C3NEF assay
- Where
- Italy
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Pertussis
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Acellular and Whole-Cell Pertussis Vaccines
OBJECTIVES: I. Compare the safety and efficacy of acellular 2-component vs. acellular multicomponent vs. whole-cell pertussis vaccine vs. placebo in infants living in Sweden. II.
- Trial name
- NCT00004799
- Testing
- whole-cell pertussis vaccine, diphtheria-tetanus vaccine
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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
HIV Infections, Mycobacterium Infections
Phase II Placebo Controlled Study of Thalidomide in Patients With Mycobacterial and HIV Infections
OBJECTIVES: I. Evaluate whether thalidomide modulates toxic host inflammatory responses in patients receiving antitubercular therapy. II.
- Conditions
- HIV Infections, Mycobacterium Infections, Tuberculosis
- Trial name
- NCT00004276
- Testing
- thalidomide
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Fragile X Syndrome
CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction
The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
- Trial name
- FIH-CTH120 (NCT06480968)
- Testing
- CTH120
- Where
- Spain
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Sickle Cell Disease
Gene Therapy Communication: Use of a Needs Assessment to Drive Decision-AIDS for Gene Therapy for Rare Diseases (GENETX)
This prospective mixed-method interview study aims to qualitatively describe the beliefs, attitudes, and informational needs around gene therapy for rare pediatric diseases among patients and parents of children with a rare…
- Trial name
- NCT05810181
- Testing
- Interview
- Where
- United States
- Volunteers
- 145 people, healthy volunteers welcome
- Sponsor
- St. Jude Children's Research Hospital
Stereotyped Behavior, Mental Retardation
Phase II Study of Stereotypes and Mental Retardation: Neurobiological Basis
OBJECTIVES: I. Determine differences between persons with repetitive behavior disorders and matched controls on measures of motor control relevant to basal ganglia pathophysiology. II.
- Trial name
- NCT00004300
- Testing
- bromocriptine, sertraline hydrochloride
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Factor X Deficiency
A Database For The Collection Of Clinical, Laboratory, And Treatment Data From Patients With Factor X Deficiency To Define The Natural History Of The Disease And Improve Patient Management
Factor X deficiency is one of the most severe rare bleeding disorders and may lead to serious spontaneous hemorrhages, particularly in patients with severe congenital forms.
- Trial name
- PRO-RBDD-FX (NCT07875478)
- Where
- 2 sites in Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Fondazione Luigi Villa
Duchenne Muscular Dystrophy, Burden, Dependency
Your Voice; Impact of Duchenne Muscular Dystrophy (DMD) on the Lives of Families
The purpose of this study is to improve the understanding of the treatment goals that a person with Duchenne Muscular Dystrophy (DMD) or the caregiver may be most interested in, based on the severity of the person's disease.
- Conditions
- Duchenne Muscular Dystrophy, Burden, Dependency, Disability Physical, Disease Management
- Trial name
- NCT03680365
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Jett Foundation, Inc.
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)
Rett Syndrome, Preserved Speech Variant, Mecp2 Duplication Syndrome
Rare Diseases Clinical Research Network: Neurophysiological Correlates
The overall purpose of this project is to advance understanding of the neurophysiological features of Rett syndrome (RTT), MECP2 Duplication (MECP2 Dup) and RTT-related disorders (CDKL5, FOXG1) to gain insight into disease…
- Conditions
- Rett Syndrome, Preserved Speech Variant, Mecp2 Duplication Syndrome, Rett-related Disorders
- Trial name
- NCT03077308
- Testing
- Auditory and Visual Event-related Potentials and EEG
- Where
- 5 sites in United States
- Volunteers
- 185 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
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)
CALFAN Syndrome
The Physiotherapy and Rehabilitation in Calfan Syndrome
Calfan syndrome is a progressive neurodegenerative systemic disease. It is a rare and difficult disease to diagnose due to the complex symptoms that occur over the years to postpartum.
- Trial name
- NCT04653909
- Testing
- Rehabilitation
- Where
- Turkey (Türkiye)
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Hasan Kalyoncu University
Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder
Neurogenetics and Multi-omics of Neuroinflammatory Diseases in Multiplex Families to Improve Patients Health
The goal of this observational study is to learn why some families have several members with multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), or MOG antibody-associated disease (MOGAD).
- Conditions
- Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder, MOG Antibody-Associated Disease, Demyelinating Autoimmune Diseases, CNS
- Trial name
- NeuroDIP (NCT07902479)
- Testing
- Blood sampling and multi-omic profiling
- Where
- 5 sites in France
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Cystic Fibrosis
Study of Hepatic Glucose Production and De Novo Lipogenesis in Patients With Cystic Fibrosis
OBJECTIVES: I. Determine the amount of hepatic glucose production derived from gluconeogenesis and glycogenolysis in the post-absorptive state in patients with cystic fibrosis. II.
- Trial name
- NCT00014781
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- University of Utah
Hereditary Hemorrhagic Telangiectasia (HHT)
Frequency of Common Medical Conditions in People With and Without HHT
Hereditary Hemorrhagic Telangiectasia (HHT) affects 1 in 5,000 people. The purpose of this study is to provide data regarding the frequency of common health conditions and the tolerability of therapies in HHT by using a…
- Trial name
- NCT02464644
- Testing
- Questionnaire
- Where
- United Kingdom
- Volunteers
- 2,174 people, healthy volunteers welcome
- Sponsor
- Imperial College London
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