Phase 2 N=54 JAK Inhibitor Treatment in AGS
Aicardi Goutieres Syndrome
Primary: Mean and Standard Deviation (SD) of the AGS Scale at 52 Weeks — 5.9 score on a scale — p=<0.0005
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 3 N=17 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
Cryopyrin-associated Periodic Syndromes · Familial Cold Autoinflammatory Syndrome · Muckle-Wells Syndrome
Primary: Percentage of Participants Aged 4 Years or Younger With at Least One Complete Response at Week 56 — 94.1 Percentage of participants
Phase 2 N=47 Tofacitinib for Immune Skin Conditions in Down Syndrome
Down Syndrome · Alopecia Areata · Atopic Dermatitis / Eczema
Primary: Number of Serious Adverse Events (SAE) Definitely Related to Tofacitinib Treatment. — 0 Serious Adverse Events
Phase 3 N=47 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS)
Familial Cold Autoinflammatory Syndrome (FCAS) · Familial Cold Urticaria · Muckle-Wells Syndrome (MWS)
Primary: Change From Baseline to Week-6 (Part A) Endpoint in Mean Key Symptom Score (KSS) — 2.4; 3.1; 2.1; 0.5 Units of a Scale — p=<.0001
Phase 3 N=166 Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
Cryopyrin-Associated Periodic Syndromes · Familial Cold Autoinflammatory Syndrome · Muckle Wells Syndrome
Primary: The Number of Participants With Adverse Events (AEs), Death, Serious Adverse Events (SAEs), Discontinuation of Study Drug Due to an AE, Infections and Infestations and…
N/A N=60 Auto-antibodies Prevalence and CD1 Role in Gaucher Disease
Gaucher Disease
Primary: Number of Patients With GD Diagnosis Confirmed by : Enzyme Testing of acidβ-glucosidase Activity Activity <15% in Blood Leucocytes Completed When Necsssary by GB1…
Phase 3 N=17 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
Cryopyrin-associated Periodic Syndromes · Familial Cold Autoinflammatory Syndrome · Muckle-Wells Syndrome
Primary: The Percentage of Participants Without Disease Relapse as Determined by the Physician's Global Assessment of Autoinflammatory Disease Activity, Assessment of Skin…
Phase 2 N=6 A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
Phase 4 N=10 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis
Infantile Neronal Ceroid Lipofuscinosis
Primary: Change in Cellular Granular Osmiophilic Deposits (GRODs) in Electron Micrographs of Peripheral White Blood Cells. — -0.3317 Average number of GRODs
Phase 2 N=21 Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
Sanfilippo Syndrome
Primary: Number of Participants With Overall Response Using Bayley Scales of Infant Development Assessment Third Edition (BSID-III) — 0; 2; 1 participants — p=0.4615
Phase 2 N=89 ATG-GCSF in New Onset Type 1 Diabetes
Diabetes Mellitus, Type 1
Primary: Change in Area Under the Stimulated C-peptide Curve From Baseline to 12 Months. — 0.528; 0.646; 0.406 nmol/L
Phase 3 N=15 Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency
NLRC4-MAS · XIAP Deficiency
Primary: Prevention of Flares — 2.71; NA Weeks
N/A N=377 Assessment of Giant Cell Arteritis Medical Practices in France
Giant Cell Arteritis
Primary: Patient Journey : Physicians Who Referred the Patient — 171; 31; 21; 17 Participants
Phase 2 N=10 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
Severe Combined Immunodeficiency
Primary: Number of Participants With Adverse Events — 10; 9; 0; 10 participants
Phase 2 N=6 A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 53; 128; 0; 1 number of events
Phase 2 N=12 Interferon Gamma-1b in Friedreich Ataxia (FRDA)
Friedreich Ataxia
Primary: Change in Whole Blood Frataxin Levels — -1.5 percentage of baseline frataxin level — p=0.027
Phase 2 N=5 Valproic Acid (Depakote[Registered Trademark]) to Treat Autoimmune Lymphoproliferative Syndrome (ALPS)
ALPS · Hypersplenism · Lymphadenopathy
Primary: Number of Participants With Response — 0 participants
Phase 2 N=11 Interleukin-1 Trap to Treat Autoinflammatory Diseases
Inflammation · Familial Mediterranean Fever · Still's Disease, Adult-Onset
Primary: Mean Change in Daily Scores — -3.09 units on a scale
N/A N=165 Validation of a Diagnostic Algorithm of Giant Cell Arteritis
Giant Cell Arteritis
Primary: Number of CDU False-positive Patients — 73; 63; 0; 29 Participants
Phase 2 N=30 Tocilizumab for Patients With Giant Cell Arteritis
Giant Cell Arteritis
Primary: Number of Patients That Have Achieved Complete Remission of Disease — 17; 4 Participants — p=0.0301
Phase 2 N=12 Use of ACTIMMUNE in Patients With ADO2
Autosomal Dominant Osteopetrosis Type 2
Primary: Changes in Bone Resorption Markers From Baseline to 14 Weeks. — 2.2; -2.1 percentage of change
Phase 2 N=12 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
Phase 1 N=16 Safety, Tolerability and Immunogenicity of ACI-24 Vaccine in Adults With Down Syndrome
Down Syndrome
Primary: Antibody Titer (Serum Anti-Aβ1-42 Free IgG) - Mean Absolute Value — 632.3; 335.4; 162.8; 751.5 AU/mL (AU: Arbitrary Unit)
Phase 2 N=9 Canakinumab in Patients With Active Hyper-IgD Syndrome
Mevalonate Kinase Deficiency
Primary: Number of Flares Per Participant During Historical Period and Treatment Period — 5; 0 Number of flares
Phase 3 N=6 Evaluating the Effectiveness of Intravenous Immunoglobulin Therapy in Autoimmune Autonomic Ganglionopathy
Autoimmune Autonomic Ganglionopathy (AAG)
Primary: Change in Systolic Blood Pressure During 60° Tilt (ΔSBP) — 42.5; -12.3 mmHg
Phase 2 N=12 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID
Immunologic Deficiency Syndromes
Primary: Survival — 12 Participants
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
Phase 1 N=9 Detection of Graft Versus Host Disease With [18F]F-AraG
Graft Versus Host Disease
Primary: Distribution of Acute GVHD Grades (MAGIC Criteria) at Time of PET/CT Scan — 0; 2; 0; 0 Participants
Phase 2 N=19 A Pilot Study of Rituximab for the Anticoagulation Resistant Manifestations of Antiphospholipid Syndrome
Antiphospholipid Syndrome
Primary: Number of Participants Experiencing Serious and Non Serious Adverse Events — 19 Participants
N/A N=82 An International Registry of the Wingspan™ Stent System for the Treatment of Intracranial Atherosclerotic Stenosis
Intracranial Atherosclerosis
Primary: Successful Wingspan™ Stent Implantation (Access to the Lesion With the Stent, Accurate Deployment of the Stent Across the Target Lesion) — 78 patients w stent implanted