N/A N=442 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 Participants
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 3 N=18 Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)
CTX
Primary: Change From Baseline in Urine 23S-Pentol During the Two Double-Blind Periods — 7.18; 6.96; 7.45; 10.34 natural log of ng/mL — p=<0.0001
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=14 Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…
Phase 2 N=10 Citocoline for Treatment in Fragile X-associated Tremor/Ataxia Syndrome
Fragile X Tremor/Ataxia Syndrome
Primary: FXTAS Rating Scale Score — 45.8 score on a scale
Phase 2 N=23 Effect of CT1812 Treatment on Brain Synaptic Density
Alzheimer Disease
Primary: Number of TEAEs, Related TEAEs, SAEs, and Related SAEs — 7; 8; 6; 21 Participants
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
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=65 A Study of DS-1211b in Individuals With PseudoXanthoma Elasticum
Pseudoxanthoma Elasticum
Primary: Number of Participants With Treatment-emergent Adverse Events (TEAEs) in Participants Receiving DS-1211b — 8; 7; 6; 6 Participants
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 4 N=145 A Clinical Study of Xenetix 300 in Multislice Computed Tomography (CT) Pediatric Indications
Diagnostic Imaging
Primary: Creatinine Clearance — 1.1; 1.9 percent change
Phase 2 N=4 Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C
Primary: Efficacy of Adrabetadex (VTS-270) to Reduce Plasma Levels of a Conjugated Bile Acid, Known as 5α-cholanic Acid-3β, 5α, 6β-triol N-(Carboxymethyl)-Amide — 32.6; 87.9 ng/ml
Phase 2 N=20 Bexarotene Amyloid Treatment for Alzheimer's Disease
Alzheimer's Disease
Primary: Drug-Placebo Difference in Change From Baseline to Week 4 in the Composite Amyloid Burden of the Brain — -0.03; 0.02 SUVr — p=0.22
Phase 3 N=12 VTS-270 to Treat Niemann-Pick Type C1 (NPC1) Disease
Niemann-Pick Disease, Type C
Primary: Parts A/B: Change From Baseline to Week 52 in 4-Item Composite Score of Niemann Pick Type C Severity Scale (NPC-SS) Score — 8.1; 8.8; -0.1; 0.0 score on a scale
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=21 Calcitonin for Treating X-linked Hypophosphatemia
Hypophosphatemic Rickets, X Linked Dominant
Primary: Area Under the Curve for FGF23 — 3172.34; 3215.34 pg/ml*hr
Phase 2 N=40 Doxycycline and TUDCA in Patients With Transthyretin Amyloid Cardiomyopathy
Amyloidosis; Heart (Manifestation) · Senile Cardiac Amyloidosis
Primary: Changes in Strain Echocardiography — 9.1 percent LV shortening
Phase 3 N=5 GlycoCholic Acid Treatment for Patients With Inborn Errors in Bile Acid Synthesis
Bile Acid Synthesis Defect · Inborn Error of Bile Acid Metabolism · Inborn Error of Bile Acid Conjugation
Primary: Conjugated Cholic Acid (GCA) for the Treatment of Inborn Errors in Bile Acid Synthesis Involving Side-chain Conjugation. — 5 Participants
N/A N=31 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
X-linked Adrenoleukodystrophy
Primary: Change in Maximal Voluntary Contraction of the Hip Flexors From Baseline to End of Training and to Post-training — 0.94; 0.98; 1.32; 1.37 kg
Phase 4 N=96 Hepatic Xenetix-CT Perfusion
Hepatocellular Carcinoma
Primary: Blood Volume (BV) According to Degree of Lesions Differentiation — 15.930; 13.958 mL/100 grams
Phase 2 N=78 DHA and X-Linked Retinitis Pigmentosa
Retinitis Pigmentosa · X-linked Genetic Diseases
Primary: Rate of LOSS of 31 Hertz Cone Electroretinographic Function — 0.028; 0.022 log microvolts/year — p=0.30
Phase 2 N=22 Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Teleangiectasia Patients
Nervous System Disorder · Genetic Syndrome
Primary: Mean Change From Baseline in Neurological Symptoms Assessed by Using International Cooperative Ataxia Rating Scale (ICARS) Score - ITT Population — -2.2; -3.4; -4.0…
Phase 2 N=6 An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of Subjects With Batten Ceroid Lipofuscinosis, Neuronal 3 (CLN3) Disease
Batten Disease
Primary: Number of Treatment-emergent Adverse Events. — 6 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
Phase 2 N=11 Fat Malabsorption in Chronic Pancreatitis
Chronic Pancreatitis
Primary: Malabsorption Blood Test: Difference in Mean HA AUC Between Groups: Subjects With CP Compared to Healthy Subjects — 8.3; 17.7 mg*h/dL — p=<0.001
Phase 3 N=85 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
Infantile Refsum's Disease · Zellweger Syndrome · Adrenoleukodystrophy
Primary: Number of Participants With Excretion of Atypical Bile Acids in Urine by Category — 10; 51; 11; 9 Participants
Phase 2 N=13 Gene Therapy For Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Disease
Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
Primary: Incidence And Severity Of Treatment-Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs) — 13; 5; 7; 7 Participants
Phase 3 N=323 Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)
Charcot-Marie-Tooth Disease Type 1A
Primary: Overall Neuropathy Limitation Scale (ONLS) Total Score — 3.33; 3.05; 3.23; 3.25 Scores on the ONLS — p=0.008
Phase 2 N=5 Magnesium Supplementation in People With XMEN Syndrome
XMEN
Primary: Participants With a ≥0.5 Log Reduction in the Number of EBV-infected B Cells After Magnesium Supplementation as Compared to Placebo - Phase 1 — 0; 0 Participants
Phase 1 N=22 Biliary Excretion of Conjugated Bile Acids in Humans Measured by 11C-cholylsarcosine PET/CT
Cholestasis · Primary Sclerosing Cholangitis · Primary Biliary Cirrhosis
Primary: Percentage of Participants in Whom we Could Quantify Hepatic Transport of 11C-CSar — 100; 100 percentage of participants