Clinical trials: Storage Disease
Adrenoleukodystrophy, Metachromatic Leukodystrophy
Stem Cell Transplant for Inborn Errors of Metabolism
The purpose of this study is to determine the safety and engraftment of donor hematopoietic cells using this conditioning regimen in patients undergoing a hematopoietic (blood forming) cell transplant for an inherited metabolic…
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Gaucher's Disease
- Trial name
- NCT00176904
- Testing
- Stem Cell Transplant, Busulfan, Cyclophosphamide, Antithymocyte Globulin
- Where
- United States
- Volunteers
- 135 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Mucopolysaccharidosis I, Mucopolysaccharidosis II
Registry of Patients Diagnosed With Lysosomal Storage Diseases
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
- Trial name
- LSD Registry (NCT05619900)
- Testing
- There is no intervention
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- University of California, San Francisco
Pompe Disease, Glycogen Storage Disease Type II
A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease
The purpose of this study is to see how molecules called pharmacological chaperones affect the cells of patients with Pompe disease.
- Trial name
- NCT00515398
- Testing
- Observation
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- Amicus Therapeutics
Digestive Health, Abdominal Discomfort
Study to Investigate the Efficacy of a Digestive Health Dietary Supplement on Post-meal Bloating in Healthy Participants
The goal of this crossover clinical trial is to evaluate the efficacy and safety of Bloat Gummies on postprandial bloating and related gastrointestinal discomfort in healthy adults with recurrent bloating.
- Conditions
- Digestive Health, Abdominal Discomfort, Gas and Bloating
- Trial name
- NCT07516587
- Testing
- Bloat Gummies
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Arrae
Adrenoleukodystrophy, Adrenomyeloneuropathy
Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
This study is a national, non-randomized, open-label, multi-site with minimal risk study in adult with adrenomyeloneuropathy (AMN), childhood and adult subjects with cerebral ALD (cALD), juvenile/adult metachromatic…
- Conditions
- Adrenoleukodystrophy, Adrenomyeloneuropathy, Metachromatic Leukodystrophy, Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
- Trial name
- MATRIX (NCT04925349)
- Testing
- Blood sample collection
- Where
- 2 sites in France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Pompe Disease
Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease
A recombinant AAV vector has been generated to carry the codon-optimized acid alpha-glucosidase (coGAA) gene expressed from a human desmin enhancer/promoter (DES).
- Trial name
- AAV9-GAA_IM (NCT02240407)
- Testing
- Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase, Rapamycin, saline
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Florida
Niemann-Pick Disease, Type C
VTS-270 to Treat Niemann-Pick Type C1 (NPC1) Disease
Due to different study designs, the sponsor separated Part C into a separate registration (NCT04958642), leaving Parts A/B here in NCT02534844.
- Trial name
- NCT02534844
- Testing
- Parts A/B: Adrabetadex
- Where
- 29 sites in United States, Australia and 7 more
- Volunteers
- 56 people
- Sponsor
- Mandos LLC
Sanfilippo Syndrome, MPS3
An Open Label Dose Escalation Study to Assess the Safety, Tolerability, and Pharmacologic Properties of High Dose Ambroxol Hydrochloride in Adult (≥ 18 Years of Age) Subjects With MPS III
A dose escalation study to evaluate the safety, tolerability, and pharmacologic properties of Ambroxol in adult participants with Sanfilippo disease(s) (MPS3).
- Trial name
- NCT06614894
- Testing
- Ambroxol Hydrochloride 30 mg tablet - 9 mg/kg/day, Ambroxol Hydrochloride 30 mg tablet - 18 mg/kg/day, Ambroxol Hydrochloride 30 mg tablet - 27 mg/kg/day
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Ozlem Goker-Alpan
Gaucher Disease, Splenomegaly, Acid SphingoMyelinase Deficiency
A Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged Spleen
Primary Objective: To assess prevalence of Gaucher disease (GD) diagnosed in pediatric patients presenting with unexplained splenomegaly (SMG) after exclusion of first intention-diagnoses (e.g.
- Trial name
- OPPUS (NCT04845958)
- Where
- 40 sites in France
- Volunteers
- 60 people
- Sponsor
- Sanofi
Cholesterol Ester Storage Disease(CESD), Lysosomal Acid Lipase Deficiency
Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency
This was the first clinical study of SBC-102 (sebelipase alfa) for the treatment of Lysosomal Acid Lipase (LAL) Deficiency. It was an open-label dose escalation study in adult participants with liver dysfunction due to LAL…
- Conditions
- Cholesterol Ester Storage Disease(CESD), Lysosomal Acid Lipase Deficiency, LAL-Deficiency
- Trial name
- NCT01307098
- Testing
- Sebelipase alfa 0.35 mg/kg, Sebelipase alfa 1 mg/kg, Sebelipase alfa 3 mg/kg
- Where
- 7 sites in United States, Czechia and 2 more
- Volunteers
- 9 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Mucopolysaccharidosis Disorders, Hurler Syndrome
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based…
- Conditions
- Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome
- Trial name
- NCT02171104
- Testing
- Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen
- Where
- United States
- Volunteers
- 149 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Cardiomyopathies, Amyloidosis Cardiac
Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation
The study aims to identify new diagnostic and prognostic markers for CMP that can help predict disease progression. In particular, the study will focus on microRNAs (miRNAs) and spatial transcriptomics, which are emerging…
- Conditions
- Cardiomyopathies, Amyloidosis Cardiac, Fabry Disease, Arrhythmogenic Cardiomyopathy
- Trial name
- CMPMIRNA (NCT06813443)
- Where
- 3 sites in Italy
- Volunteers
- 700 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Fabry Disease
China Post-marketing Surveillance (PMS) Study of Fabrazyme®
This is a 54-week Phase 4, open label, single arm study to evaluate the safety and the efficacy of Fabrazyme (agalsidase beta) as enzyme replacement therapy (ERT) in Chinese participants with Fabry Disease.
- Trial name
- NCT05054387
- Testing
- Agalsidase beta
- Where
- 6 sites in China
- Volunteers
- 22 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis II
A Study of JR-141 in Patients With Mucopolysaccharidosis Type II
The purpose of this study in patients with mucopolysaccharidosis type II (MPS II) is below, to collect the safety information of JR-141 to evaluate the plasma pharmacokinetics of JR-141 to explore the efficacy of JR-141 on MPS…
- Trial name
- NCT03128593
- Testing
- JR-141
- Where
- 8 sites in Japan
- Volunteers
- 14 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Fabry Disease
The Safety and Efficacy of Intravenous EXG110 in Patients With Fabry Disease
A phase 1/2, multicenter, open-label, Dose-escalation study to evaluate the safety and efficacy of intravenous EXG110 in patients with Fabry disease
- Trial name
- NCT06819514
- Testing
- EXG110 Injection
- Where
- 3 sites in China
- Volunteers
- 16 people
- Sponsor
- Guangzhou Jiayin Biotech Ltd
Mucopolysaccharidosis III
Open-label Study of Anakinra in MPS III
Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a disorder of metabolism, associated with insufficient production of a lysosomal enzyme needed for normal cell function.
- Trial name
- NCT04018755
- Testing
- anakinra
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Lynda E Polgreen
Fabry Disease
Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI
This study will evaluate whether cardiac MRI T1 and T2 mapping improves our ability to detect early abnormalities in the heart in patients with Fabry disease and identify patients at increase risk of adverse events.
- Trial name
- FIESTA-MRI (NCT04856059)
- Testing
- Cardiac MRI, ECG/Holter and Blood Biomarkers
- Where
- Canada
- Volunteers
- 300 people
- Sponsor
- University Health Network, Toronto
Asmd, Visceral Type
Biomarkers Of Lung InVolvement In ASMD
The goal of this study is to characterize ASMD patients' breath profile, exhaled breath and condensate as compared to healthy controls to identify specific volatile and non-volatile compounds that reflect inflammatory processes…
- Trial name
- BOLIVIA (NCT05914727)
- Testing
- eNose, Volatile exhaled breath sample, Condensate sample
- Where
- Netherlands
- Volunteers
- 68 people, healthy volunteers welcome
- Sponsor
- Eline C. B. Eskes
Glycogen Storage Disease, Type 14
Study of ORL-1G (D-galactose) in Patients With Glycogen Storage Disease Type 14
Study of ORL-1G in Patients With Glycogen Storage Disease Type 14
- Trial name
- NCT03404856
- Testing
- ORL-1G - D-galactose
- Where
- Turkey (Türkiye)
- Volunteers
- 5 people
- Sponsor
- Orpha Labs
Gaucher Disease
Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease
This is an open-label expanded access trial of prGCD in patients with Gaucher disease who require enzyme replacement therapy (ERT) and who have been treated with imiglucerase but for whom the dose has been reduced or discontinued…
- Trial name
- NCT00962260
- Testing
- Plant cell expressed recombinant glucocerebrosidase (prGCD)
- Where
- 15 sites in United States, Israel
- Sponsor
- Pfizer
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