Clinical trials: Rare Disorders
Pertussis
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Acellular and Whole-Cell Pertussis Vaccines
OBJECTIVES: I. Compare the efficacy of 2 acellular pertussis vaccines vs. whole-cell pertussis vaccine vs. placebo in infants living in Italy. II. Compare the relative protection of each of the acellular vaccines vs.
- Trial name
- NCT00004800
- Testing
- diphtheria-tetanus-pertussis vaccine containing whole-cell pertussis, diphtheria-tetanus vaccine
- Volunteers
- 13,250 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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)
Selenoprotein N-related Myopathy
Pharmacological Treatment of a Rare Genetic Disease: N-acetylcysteine in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM)
The objective of this study is to determine whether the administration of N-acetylcysteine (NAC) improves oxidative stress. To determine this, the study will assess the impact of oral treatment on the balance between reduced and…
- Trial name
- SelNac (NCT02505087)
- Where
- France
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis
Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases
This project aims to identify, through RNA-Seq technology, the genetic alterations underlying undiagnosed rare diseases in pediatric and adult patients with early onset and with negative WES.
- Conditions
- Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, Autosomal Dominant Polycystic Kidney, Healthy
- Trial name
- ANTHEM (NCT05996731)
- Testing
- Skin biopsy
- Where
- Italy
- Volunteers
- 105 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research
Congenital Malformation
The Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation
Qualitative study in psychology whose main objective is to propose a grounded theory to report the dynamics of parental adjustment for the period from the announcement of the diagnosis to one year of the child affected by a rare…
- Trial name
- INEMAT (NCT03565822)
- Testing
- Interview
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
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)
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
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
Idiopathic Pulmonary Fibrosis
Current Status of Diagnosis, Treatment and Quality of Life for Patients with Idiopathic Pulmonary Fibrosis
The goal of this observational study is to explore current status of diagnosis, treatment and quality of life for patients with idiopathic pulmonary fibrosis.
- Trial name
- IPFLife (NCT06629623)
- Testing
- No intervention
- Where
- China
- Volunteers
- 310 people, healthy volunteers welcome
- Sponsor
- Chu Hongling
Occasional Hair Loss
Evaluation of the Dietary Supplement Effect on Improvement of Hair Condition in Subjects With Occasional Hair Loss.
The goal of this study is to learn if dietary supplement works to help with improving hair condition in subjects with occasional hair loss. It will also learn about its safety.
- Trial name
- NCT07835646
- Testing
- Dietary supplement for hair loss
- Where
- Spain
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Lacer S.A.
Stenosis, Histiocytoma
Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone
OBJECTIVES: I. Identify and characterize the gene causing diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone. II. Determine the clinical manifestations of this disease in these patients.
- Trial name
- NCT00007046
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
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)
Early Onset Genetic Conditions With Near Complete Penetrance
Genomic Uniformed-Screening Against Rare Disease In All Newborns
The goal of this study is to learn how genomic sequencing technology can be used to effectively expand the conditions screened on newborn screening.
- Trial name
- GUARDIAN (NCT05990179)
- Testing
- Genome sequencing-based newborn screening
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Parkinson Disease
Randomized Study of the Effects of Glucose on Cognition in Healthy Young and Elderly People and Parkinson's Disease Patients
This study will determine whether glucose facilitates memory in healthy elderly people and those with Parkinson's disease.
- Trial name
- NCT00004451
- Testing
- Glucose
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Healthy, Lupus
Direct to Patient Minimal Risk Biospecimen and Data Collection Research
This study aims to help researchers better understand health conditions and develop improved tests, treatments, and cures for diseases.
- Conditions
- Healthy, Lupus, Celiac, Kidney Disease
- Trial name
- JBMR (NCT07128966)
- Testing
- Observation
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Joined Bio
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
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
Cystic Fibrosis, Hemophilia A
Medication Adherence and Non-adherence in Adults With Rare Disease
The purpose of this study is to use the Medication Adherence Reasons Scale (MAR-Scale) to determine the extent of non-adherence to specific medications indicated to treat cystic fibrosis, hemophilia (A or B), idiopathic pulmonary…
- Conditions
- Cystic Fibrosis, Hemophilia A, Hemophilia B, Idiopathic Pulmonary Fibrosis
- Trial name
- NCT04541875
- Testing
- MAR-Scale
- Volunteers
- healthy volunteers welcome
- Sponsor
- Xperiome
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)
Atypical Hemolytic Uremic Syndrome
Functional Implications of Rare Gene Mutations in aHUS Open the Door to Personalized Therapy
Hemolytic Uremic Syndrome (HUS) is a rare disease characterized by rupture of red blood cells (hemolytic anemia), low platelet count (thrombocytopenia), and thrombotic occlusion of small vessels (thrombotic microangiopathy), with…
- Trial name
- aHUS-iPSC-EC (NCT05805202)
- Testing
- Blood sampling and urine analysis
- Where
- Italy
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- Mario Negri Institute for Pharmacological Research