Clinical trials: Rare Disorders
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
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
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)
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
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)
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)
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
Diabetes Mellitus, Monogenic Diabetes
Understanding Beta Cell Disorders Through the Study of Rare Genotypes (ENDURE)
This observational 'recruit by genotype' study aims to provide insights into the cellular and molecular pathways underlying beta cell disorders and their physiological consequences.
- Conditions
- Diabetes Mellitus, Monogenic Diabetes, Hyperinsulinism
- Trial name
- ENDURE (NCT06478121)
- Testing
- Data and Blood collection, MRI
- Where
- United Kingdom
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Carotid Atherosclerosis, Myocardial Infarction
Comparison of Asymptomatic Carotid Atherosclerosis Between Frequent and Infrequent Blood Donors
Iron has been proposed to contribute to atherogenesis in humans by facilitating the oxidation of lipoproteins. This observational study will evaluate the association between frequency of blood donation - expected to be associated…
- Trial name
- NCT00001589
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- National Institutes of Health Clinical Center (CC)
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)
Urea Cycle Disorders
PCORI Urea Cycle Disorder Study
Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain.
- Trial name
- NCT02740153
- Testing
- No Intervention Given
- Where
- United States
- Volunteers
- 187 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
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)
Amino Acid Metabolism, Inborn Errors
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
RATIONALE: The urea cycle is the process in which nitrogen is removed from the blood and converted into urea, a waste product found in urine .
- Trial name
- NCT00004307
- Testing
- Protein and calorie controlled diet, Ornithine transcarbamylase vector
- Where
- United States
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Arterial Calcification Due to Deficiency of CD73
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching…
- Trial name
- NCT00369421
- Where
- United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Rett Syndrome
Nutritional Aspects of Rett Syndrome
OBJECTIVES: I. Determine dietary macronutrient intake in children with Rett syndrome and in healthy controls. II. Measure sleeping and awake metabolic rates in various positions, i.e., reclining, sitting, and standing, by…
- Trial name
- NCT00004656
- Testing
- Metabolic assessment with body composition evaluation
- Volunteers
- healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)