N/A N=42 FACE for Children With Rare Diseases
Rare Diseases
Primary: Beck Anxiety Inventory — 10.4; 9.5; 11.1; 8.5 score on a scale — p=0.835
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
N/A N=102 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Small Fiber Neuropathy · Fabry Disease · Ehlers Danlos Syndrome
Primary: Number of Patients With Abnormal Electrochemical Skin Conductance in the Different Study Groups Who Have Clinical Symptoms Consistent With Small Fiber Polyneuropathy…
N/A N=125 Families-At-risk for Interstitial Lung Disease Study
Interstitial Lung Disease · Idiopathic Pulmonary Fibrosis
Primary: Number of Participants With ILA (Interstitial Lung Abnormalities) — 85; 13 Participants
N/A N=46 Neurologic Injuries in Adults With Urea Cycle Disorders
Brain Diseases, Metabolic, Inborn · Urea Cycle Disorder · Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol by MRS — 4.97; 3.66; 3.78; 4.50 mM — p=0.003
N/A N=998 Multicenter, Non-interventional Study, Describing Patients With Inherited Retinal Disease (IRD) in France
Inherited Retinal Disease
Primary: Proportion of Patients by Type of IRD — 720; 174; 30; 58 Participants
N/A N=183 Tenosynovial Giant Cell Tumors (TGCT) Observational Platform Project
Giant Cell Tumors
Primary: Number of Participants According to the Management Plan in Patients With Diffuse TGCT (d-TGCT) — 94; NA; NA; NA Participants
Phase 3 N=12 Betaine and Peroxisome Biogenesis Disorders
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
N/A N=28 Sepsis-Associated Purpura Fulminans International Registry - Europe
Sepsis
Primary: Mortality — 11 Participants
Phase 2 N=38 HSCT for High Risk Inherited Inborn Errors
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
N/A N=187 PCORI Urea Cycle Disorder Study
Urea Cycle Disorders
Primary: Mortality — 18.4; 20.7 participant per 1000 person-years
Phase 2 N=140 Durvalumab and Tremelimumab in Patients With Advanced Rare Tumours
Advanced Rare Tumours
Primary: Objective Response Rate Measured by RECIST Version 1.1 — 1; 19; 32; 76 Participants
N/A N=39 Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism
Pseudohypoparathyroidism · Albright Hereditary Osteodystrophy
Primary: Intelligence Quotient — 85.9; 104.3; 103.2 units on a scale
N/A N=29 Calcium Absorption in Patients With Rothmund-Thomson Syndrome
Rothmund-Thomson Syndrome
Primary: Bone Density (Low Areal Bone Mineral Density (aBMD)) — -1.3; -0.9; -2.4; -1.2 z-score
Phase 2 N=12 Systemic Sclerosis (SSc) Vasculopathy: Improved Clinical Monitoring and Treatment
Rheumatologic Disease
Primary: Flow Mediated Dilatation (FMD)-Diameter of Artery — 3.79; 3.78 mm
N/A N=214 Precision Diagnosis of Acute Infectious Diseases; Neuroinflammatory Cohort
Encephalitis · Meningitis
Primary: Total Number of Cases With at Least One Provider Response — 98; 58 cases
N/A N=2,165 Patterns of Care and Outcomes in METAstatic Soft Tissue SARComa
Sarcoma · Metastases · Chemotherapy
Primary: Correlation Between Time to Next Treatment (TNT) and Overall Survival (OS) Under First-line Treatment — 0.76 correlation coefficient
N/A N=28 Chronic Liver Disease in Urea Cycle Disorders
Urea Cycle Disorder
Primary: Liver Stiffness as Measured by Shear Wave Elastography — 13; 14 Participants
Phase 2 N=5 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients
Recessive Dystrophic Epidermolysis Bullosa
Primary: Restoration of Full-length Type VII Collagen as Assessed by Immunofluorescence. — 5; 5; 4; 4 Fluorescence Intensity (MFI) for C7
Phase 2 N=6 Gentamicin for RDEB
Recessive Dystrophic Epidermolysis Bullosa
Primary: Increased Expression of Full-length Type VII Collagen as Assessed by Immunofluorescence — 31.8; 28.4; 65.6 C7 Expression (percent of normal skin)
N/A N=442 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 Participants
N/A N=1 Single Patient Study to Treat Relapsing Polychondritis With Tocilizumab
Relapsing Polychondritis
Primary: Physician Global Assessment of Disease Activity — 21; 14; 12; 43 mm
N/A N=1,906 European Sickle Cell Disease Cohort - Hydroxyurea
Sickle Cell Disease
Primary: % of Patient-years With Malignancies — 0.001 % patient-years
N/A N=39 ABCA3 Gene and RDS in Late Preterm and Term Infants
Respiratory Distress Syndrome, Newborn
Primary: Mortality — 5; 3; 5 Participants
Phase 4 N=12 Growth and Development Study of Alglucosidase Alfa
Pompe Disease · Glycogen Storage Disease Type II (GSD-II) · Acid Maltase Deficiency Disease
Primary: Recumbent Height/Length of Participants in Centimeters (cm) — 80.4; 93.8; 67.7; 91.1 cm
Phase 2 N=41 Oral Ifetroban in Subjects With Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy Cardiomyopathy · Cardiomyopathy, Dilated
Primary: Incidence of Treatment-Emergent Adverse Events — 14; 9; 10 Participants
Phase 3 N=1,683 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
Thalassemia · Sickle Cell Disease · Diamond Blackfan Anemia
Primary: Safety Profile of Deferasirox Based Upon Drug Administration and Reporting of Serious Adverse Events — 0; 0; 1; 4 Participants
N/A N=3 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders
Lysosomal Storage Disease · Peroxisomal Disorder
Primary: Donor (Allogeneic) Hematopoietic Engraftment — 1 participants
N/A N=274 A Public Health Intervention Program to Improve the Initial Management of Soft Tissue Sarcomas.
Sarcoma
Primary: Adherence Rate to Diagnosis Imaging Guidelines for Patients With a Deep Sarcoma Tumor (Before Implementation of the Public Health Intervention Programme. — 145…
Phase 2 N=47 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204)
Hemophagocytic Lymphohistiocytosis · Chronic Active Epstein-Barr Virus Infection · Chronic Granulomatous Disease
Primary: Percentage of Participants With Overall Survival (OS) — 80.4; 66.7 percentage of participants
Phase 2 N=1 JAK/STAT Inhibition in CNS Kohlmeier-Degos Disease
Kohlmeier Degos Disease With Neurologic Involvement · Kohlmeier-Degos Disease
Primary: Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib — 1; 0; 0 Participants