Phase 2 N=12 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS)
Sjögren-Larsson Syndrome
Primary: Number of Participants Experiencing a Serious Adverse Event (SAE). — 0; 0 Participants
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Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 3 N=11 RESET Trial - Part 1 - A Phase 3 Trial in Subjects With Sjögren-Larsson Syndrome (SLS)
Sjogren-Larsson Syndrome
Primary: Visual Index Ichthyosis Severity (VIIS) Scaling Score as Assessed by the Investigator in ADX-102 Treated Patients — -0.7 units on a scale
Phase 2 N=23 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Primary: Number of Responders — 18 Participants
Phase 2 N=23 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Primary: Serum Cholesterol to Total Sterol Ratio — 90.82; 93.99 percent total cholesterol — p=0.002
Phase 2 N=12 Smith-Lemli-Opitz Syndrome and Cholic Acid
Smith-Lemli-Opitz Syndrome
Primary: Change in Plasma Cholesterol — 37.8 change (%) compared to baseline — p=0.011
Phase 2 N=18 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1
Hereditary Sensory and Autonomic Neuropathy Type I
Primary: Charcot Marie Tooth Neuropathy Score — 25.67; 20.22 scores on a scale
Phase 2 N=13 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Primary: Hyperactivity Sub-scale of the Aberrant Behavior Checklist-Community (ABC-C). — 8.6; 8.6 units on a scale — p=1.0
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 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=38 HSCT for High Risk Inherited Inborn Errors
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Phase 2 N=37 Evaluation of LUM001 in the Reduction of Pruritus in Alagille Syndrome
Alagille Syndrome
Primary: Change From Baseline to Endpoint (Week 13/Early Termination) in Pruritus — -1.470; -1.486; -0.620; -0.580 Score on a scale — p=0.0321
Phase 2 N=19 Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
Metabolic Disease · Seizures
Primary: Change From Baseline on the Adaptive Behavior Assessment System (ABAS) Test at the End of the Study Drug and Placebo Treatment Periods — 5.2; 4.5 scores on a scale
Phase 3 N=66 Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency
Lysosomal Acid Lipase Deficiency
Primary: Percentage Of Participants Achieving Alanine Aminotransferase Normalization — 31; 7; 56; 37 percentage of participants — p=0.0271
Phase 3 N=44 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 mL
N/A N=7 Oral Galactose in Children With Steroid Resistant Nephrotic Syndrome
Focal Segmental Glomerulosclerosis · Steroid Resistant Nephrotic Syndrome
Primary: Focal Segmental Glomerulosclerosis Permeability Factor (FSPF) — 0.69; 0.35 Palb — p=0.009
Phase 2 N=10 Phase 2 Study of Obeticholic Acid for Lipodystrophy Patients
Familial Partial Lipodystrophy
Primary: Change in the Liver Triglycerides (TG). — 13.2; 6.4; 12.3; 10.6 percentage of liver triglycerides
N/A N=41 Fatty Acid Oxidation Defects and Insulin Sensitivity
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Primary: Glucose Disposal Rate (Rd)- the Rate of Glucose Infusion to Maintain Euglycemia During Steady State Insulin Infusion in mg/Min — 709; 429; 842; 497 mg/min — p=0.136
Phase 1 N=14 Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)
Glucose Transporter Type 1 Deficiency Syndrome · GLUT1 Deficiency Syndrome
Primary: Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time — 13 Participants
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 3 N=20 Treatment of Sunflower Syndrome With ZX008 (Fenfluramine Hydrochloride) in Children and Young Adults (Ages 4-25).
Photosensitive Epilepsy
Primary: % Change in Frequency of Handwaving Episodes — -66.2 % change in hand waving episodes — p=<0.001
Phase 2 N=34 An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Pediatric Subjects With Alagille Syndrome
Alagille Syndrome
Primary: Change From MRX Baseline to Week 48 in Fasting Serum Bile Acid (sBA) — 223.62; 157.35 μmol/L — p=0.1157
Phase 2 N=25 A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency
Sphingomyelin Lipidosis
Primary: Number of Participants With Treatment Emergent Adverse Events (TEAEs), Treatment Emergent Serious Adverse Events (TESAEs) and Adverse Events of Special Interest (AESIs)…
Phase 2 N=3 Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome
Netherton Syndrome
Primary: Blood Pimecrolimus Levels — 0; 0; 0.312; 1.260 ng/mL
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 3 N=9 Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency
Lysosomal Acid Lipase Deficiency · Wolman Disease
Primary: Percentage Of Participants In The Primary Efficacy Analysis Set (PES) Surviving To 12 Months Of Age — 67 Percentage of participants
Phase 2 N=7 Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica · Epidermolysis Bullosa
Primary: Number of Wounds by Healing Category Per Investigator Visual Assessment — 35; 5; 2; 28 wounds
Phase 3 N=48 Comparison of Smoflipid to Soy-based Lipid Reduction for Cholestasis Prevention in Surgical Neonates
Cholestasis of Parenteral Nutrition
Primary: Number of Participants With Cholestasis — 1; 3; 7 Participants — p=0.590
Phase 2 N=5 Study of Gemcabene in Adults With FPLD
Familial Partial Lipodystrophy · Hypertriglyceridemia · Fatty Liver
Primary: Change in Fasting Serum Triglyceride (at 12 Weeks) — -0.44; -20.27 percent change — p=0.517
Phase 2 N=8 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
Epidermolysis Bullosa Simplex · Epidermolysis Bullosa Simplex Kobner · Weber-Cockayne Syndrome
Primary: Foot Health Status Questionnaire, Foot Function Domain Score — 61.7; 49.3; 60.2; 56.3 score on a scale
Phase 2 N=20 Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille Syndrome
Alagille Syndrome
Primary: Change From Baseline to Week 13 (End of Treatment) in Fasting Serum Bile Acid Level — -82.864; -49.388; -66.126; -42.157 umol/L — p=0.5740