Clinical trials: Rare Diseases
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
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Anxiety Disorder, Panic Disorder
Vestibular Dysfunction In Adult Patients With Panic Disorder With or Without Agoraphobia
OBJECTIVES: I. Determine whether the prevalence of abnormalities on clinical vestibular (balance) tests is higher in panic disorder with agoraphobia than in uncomplicated panic disorder and nonpanic anxiety disorder. II.
- Trial name
- NCT00004367
- Testing
- Clinical vestibular tests
- Where
- United States
- Volunteers
- 165 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
IGA Glomerulonephritis
Pilot Study of Enalapril and Renal Function in Patients With IgA Nephropathy
OBJECTIVES: I. Determine the most sensitive outcome measures (functional or morphological) of a progressive renal injury in patients with IgA nephropathy. II.
- Trial name
- NCT00006137
- Testing
- enalapril
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
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
Hypogonadism, Precocious Puberty
Study of Gonadotropin-Releasing Hormone Pulse Frequency in Sexual Maturation and in the Menstrual Cycle
OBJECTIVES: I. Evaluate the sleep-entrained patterns of gonadotropin-releasing hormone (GnRH) and sex steroid secretion in normal and hypogonadal children. II.
- Trial name
- NCT00004335
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
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)
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Rare Genetic Disorders, Quality of Life
The Relationship Between Functional Independence and Family Well-being in Children With Rare Genetic Disorders
This study aims to examine the psychological status and quality of life of families with children who have rare genetic disorders.
- Conditions
- Rare Genetic Disorders, Quality of Life, Functional Impairment
- Trial name
- NCT07348926
- Where
- Turkey (Türkiye)
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Bahçeşehir University
Cannabis
A Study of Ingested Cannabidiol in Healthy Occasional Cannabis Users
The purposes of this study are 1) to determine if the administration of different low doses of oral CBD (20 mg, 50 mg, 100 mg and 200 mg) result in detectable subjective pleasant drug effect compared to placebo and 2) to…
- Trial name
- NCT05407285
- Testing
- Cannabis 20 mg,, Cannabis 50 mg, Cannabis 100 mg
- Where
- Canada
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Centre hospitalier de l'Université de Montréal (CHUM)
Low Back Pain
Internet App to Self-Manage Occasional Low Back Pain
Nonspecific low back pain (NLBP) is the diagnosis for 85% of low back pain sufferers with no underlying medical cause (e.g., herniated disc, spinal stenosis) that requires physician care.
- Trial name
- BackPain2 (NCT01950091)
- Testing
- FitBack on-line intervention, Alternative Website Control
- Volunteers
- 606 people, healthy volunteers welcome
- Sponsor
- Oregon Center for Applied Science, Inc.
Genetic Eye Disease
Genetics of Inherited Eye Disease
Background: Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes.
- Trial name
- NCT02471287
- Where
- United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Cystic Fibrosis
Study of Metabolic Effects of Pregnancy in Women With Cystic Fibrosis
OBJECTIVES: I. Compare the clinical status of pregnant vs non-pregnant women with cystic fibrosis. II. Determine glucose tolerance during each trimester of pregnancy in these women. III.
- Trial name
- NCT00014768
- Testing
- glucose, insulin, leucine
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Primary Mitochondrial Diseases
Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
Mitochondrial diseases are a genetically diverse group of disorders, some of which are caused by mutations or deletions in the mitochondrial DNA (mtDNA) and which display a wide range of severity and phenotypes.
- Trial name
- NCT06474104
- Where
- Israel
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Minovia Therapeutics Ltd.
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
Phenylketonuria (PKU)
Brain Aging in Phenylketonuria
Background: Historically, the primary goal in managing phenylketonuria (PKU) has been to prevent severe and irreversible intellectual disability, as well as to address nutritional deficiencies that could lead to growth…
- Trial name
- NCT06969209
- Where
- Switzerland
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Rare Diseases, Congenital Disorders
Vocal Pattern Assessment as a New Key to Identifying Rare Syndromes
Primary Study Objective The primary objective of the study is the definition of distinct vocal phenotypes and the development of an Explained Decision Support System (DSS) for the automatic detection of vocal patterns in relation…
- Trial name
- FONOTIPO (NCT05955794)
- Testing
- voice recordings
- Where
- Italy
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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