Clinical trials: Rare Disease
Undiagnosed Disease, Rare Diseases
Rare and Undiagnosed Disease Research Biorepository
This research study is being done to find markers and identify causes of rare and undiagnosed diseases by analyzing patient's DNA (i.e., genetic material), RNA, plasma, urine, tissues, or other samples that could be informative…
- Trial name
- PRaUD (NCT04703179)
- Testing
- Genetic test evaluation
- Where
- 3 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
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.
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
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
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
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
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Heart Septal Defects, Ventricular
Study of Energy Expenditure in Infants With Ventricular Septal Defects
OBJECTIVES: I. Compare the total daily energy expenditure in infants with ventricular septal defects vs healthy control infants.
- Trial name
- NCT00006272
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Rare Diseases, Aniridia
Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
The cross-sectional observational clinical study related to rare eye diseases is a multi-center study in which the hypothesis is that neurokinin 1 receptor and/or substance P expression is increased in REDs associated with…
- Conditions
- Rare Diseases, Aniridia, Neurotrophic Keratopathy, Limbal Stem Cell Deficiency
- Trial name
- NCT06412718
- Volunteers
- 274 people, healthy volunteers welcome
- Sponsor
- IRCCS Ospedale San Raffaele
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
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
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)
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)
ANCA-associated Vasculitis
Biocollection of Patients With ANCA Associated Vasculitis
As rare disease, vasculitis affects a small number of patients, the cohorts available in the literature are few and the pathophysiological mechanisms remain to be elucidated.
- Trial name
- ANCA (NCT05364892)
- Testing
- Blood samples (80 mL), Fecal samples, Urinary sample (20-40 mL)
- Where
- France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Hospital, Brest
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)
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.
Cushing's Syndrome
Study of Hypercortisolism in Cushing's Syndrome and Stress-Induced Pseudo-Cushing's Syndrome
OBJECTIVES: I. Determine whether Cushing's syndrome and stress-induced pseudo-Cushing's syndrome can be differentiated by evaluating endogenous corticotropin-releasing hormone activity.
- Trial name
- NCT00004343
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
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)
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
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