Phase 2 N=12 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1
Neimann-Pick Disease
Primary: Number of Participants With Tolerabilty of 200 mg Vorinostat in Niemann-Pick Disease, Type C1 — 12 Participants
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Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
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=35 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
Niemann-Pick Disease, Type C
Primary: Oxysterol Levels — 28.09; 27.64 ng/mL
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 2 N=33 N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)
Niemann-Pick Disease, Type C
Primary: Clinical Impression of Change in Severity (CI-CS) [Fields et al 2021] — 0.86 score on a scale — p=0.029
Phase 3 N=28 Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C
Niemann-Pick Disease, Type C
Primary: Change From Baseline in the Niemann-Pick Disease Type C (NPC) Disease Severity Assessed Based on the 5-domain NPCCSS Total Scores — 0.76; 2.15 score on a scale — p=0.0456
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=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=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
Phase 2 N=7 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease
Gaucher Disease, Type 3
Primary: Change From Baseline to 12 Months (Week 53) in Hemoglobin Concentration — 2.15 g/dL
Phase 2 N=24 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease
Jansky-Bielschowsky Disease · Batten Disease · Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
Primary: Motor-Language (ML) Scale Score During 300 mg Dosing Period — 3.5; 3.1; -0.4 units on a scale — p=0.0002
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=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 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=23 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
Primary: Number of Responders — 18 Participants
Phase 2 N=26 A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients
Gaucher Disease, Type 1 · Cerebroside Lipidosis Syndrome · Glucocerebrosidase Deficiency Disease
Primary: Percentage of Participants Demonstrating A Meaningful Clinical Response — 77 percentage of participants
Phase 3 N=169 Cysteamine Bitartrate Delayed-Release for the Treatment of NAFLD in Children
Nonalcoholic Fatty Liver Disease (NAFLD)
Primary: Improvement in Nonalcoholic Fatty Liver Disease (NAFLD) — 25; 18 participants — p=0.34
Phase 2 N=146 A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1
Neurofibromatosis Type 1
Primary: Paired Associate Learning (Cambridge Neuropsychological Test Automated Battery). — 15.8; 17.0; 10.3; 11.7 PAL Total Errors — p=0.51
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=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 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
N/A N=442 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 Participants
Phase 2 N=43 A Safety, Tolerability, and Efficacy Study of BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease
Jansky-Bielschowsky Disease · Batten Disease · Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
Primary: Motor Language (ML) Scale: Rate of Decline in the 0 to 6-point ML Score. — 0.15; 1.30 change in score/48 wk — p=< 0.0001
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=30 N-Acetyl-L-Leucine for GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease)
GM2 Gangliosidosis · Tay-Sachs Disease · Sandhoff Disease
Primary: Clinical Impression of Change in Severity (CI-CS) [Fields et al 2021] — 0.71 score on a scale — p=0.044
Phase 2 N=11 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)
Mucopolysaccharidosis IIIB
Primary: Number Of Participants Who Experienced Severe Treatment-emergent Adverse Events (TEAEs) — 1; 0; 1 Participants
Phase 3 N=34 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease
Gaucher Disease, Type 1
Primary: Mean Change From Baseline to Month 9 in Hemoglobin (Hgb) Concentration for Each Treatment Group. — 1.624; 1.488 gram per deciliter (g/dl)
Phase 1 N=9 Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease
Parkinson's Disease · Gaucher's Disease
Primary: Brain GSH — 55; 41; 34 percent increase from baseline
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 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