Clinical trials: Rare Disorders
Acromegaly
Study of the Effect of Growth Hormone-Releasing Hormone Antagonist on Growth Hormone Release in Acromegaly
OBJECTIVES: I. Determine whether release of endogenous growth hormone (GH)-releasing hormone is involved in GH responses to clonidine, pyridostigmine, levodopa, arginine, GH-releasing peptide, insulin-induced hypoglycemia, and…
- Trial name
- NCT00004332
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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
Disorder of Sex Development, Intersex Conditions
Decision Support for Parents Receiving Information About Child's Rare Disease
The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g.…
- Conditions
- Disorder of Sex Development, Intersex Conditions, Congenital Adrenal Hyperplasia, Hypospadias
- Trial name
- DSD DST (NCT01875640)
- Where
- 4 sites in United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- University of Michigan
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
Rare Diseases, Marfan Syndrome
Analysis of Muscular Properties in Patients With MFS and EDS
The goal of this observational study is to learn and assess muscle morphological and electromechanical properties in patients affected with Marfan syndrome (MFS) and Ehlers Danlos syndrome (EDS).
- Conditions
- Rare Diseases, Marfan Syndrome, Ehlers-Danlos Syndrome
- Trial name
- MUSCLE (NCT05720923)
- Testing
- Analysis with Ergometer
- Where
- Italy
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Cystic Fibrosis
Study of Ibuprofen to Preserve Lung Function in Patients With Cystic Fibrosis
OBJECTIVES: I. Determine the effect of different doses of ibuprofen on neutrophil (polymorphonuclear leukocyte; PMN) delivery to a mucosal surface (the oral mucosa) in patients with cystic fibrosis and healthy controls. II.
- Trial name
- NCT00004440
- Testing
- ibuprofen
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- FDA Office of Orphan Products Development
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
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
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
Eye Diseases, Severe Loss of Vision
Holistic Mixed Approaches to Capture the Real Life of Children With Rare Eye Diseases
Rare Eye Diseases (RED) are the leading cause of severe visual impairment/ blindness (SVI/B) in children in Europe. This sensory disability with its accompanying psychological distress hugely impacts their lives and their…
- Conditions
- Eye Diseases, Severe Loss of Vision, Blindness, Quality of Life
- Trial name
- SeeMyLife (NCT06070467)
- Testing
- Mixed Methods Research (MMR) using quantitative (QUAN) and qualitative (QUAL) tools
- Where
- France
- Volunteers
- 154 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
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
Lipodystrophy
Study of Alpha-2 Adrenergic Receptor Dysfunction in Regional Lipoatrophy
OBJECTIVES: I. Determine the response in plasma norepinephrine concentration and plasma glycerol to the agonist (clonidine) and the antagonist (yohimbine) of the alpha-2 adrenergic receptor in 6 patients with regional lipoatrophy…
- Trial name
- NCT00004329
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Skeletal Disorders
Study of Skeletal Disorders
Background: There are 461 conditions that affect the bones (skeletal disorders). Many of these are not well understood and do not have any specific treatments. Researchers want to collect more data about these conditions.
- Trial name
- NCT05031507
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
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
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
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
Rheumatic Disease
Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease
Background: The rare disease melorheostosis causes bones to thicken. This may lead to pain, and can affect bones, joints, and muscles. Researchers want to learn more about the disease and how it progresses.
- Trial name
- NCT02504879
- Where
- United States
- Volunteers
- 350 people, healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy (DMD)
Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.
- Trial name
- NCT06839469
- Where
- 3 sites in United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- Columbia University