Clinical trials: Lysosomal Storage Diseases
Fabry Disease
Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease
GROUND study is an Italian, multicenter retrospective longitudinal cohort study with a cross-sectional phase with the aim to quantify the severe clinical burden in terms of severe and fatal outcomes and extension of clinical…
- Trial name
- GROUND (NCT04916977)
- Testing
- FD patients
- Where
- 7 sites in Italy
- Volunteers
- 200 people
- Sponsor
- Chiesi Italia
Mucolipidosis Type IV
The Natural History and Pathogenesis of Mucolipidosis Type IV
Mucolipidosis Type IV (ML-IV) is a metabolic disorder that causes mental and motor retardation as well as visual impairment. There is storage of material in practically all the cells of the body, causing problems in the brain and…
- Trial name
- NCT00015782
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Krabbe Disease
Krabbe Disease Global Patient Registry
The purpose of this study is to develop a clinical database of individuals diagnosed with Krabbe disease in order to determine which symptoms herald the onset of clinical disease in the various phenotypes of Krabbe disease; to…
- Trial name
- NCT02993796
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- State University of New York at Buffalo
Gaucher Disease, Type III
Eliglustat on Gaucher Disease Type IIIB
Evaluation of the safety in the combination usage of Cerdelga and Cerezyme in type III Gaucher disease patients and the efficacy on soft tissue diseases.
- Trial name
- NCT03519646
- Testing
- Eliglustat
- Where
- Taiwan
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Pompe Disease (Late-onset), Inclusion Body Myositis
Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease
The primary aim of this nationwide, explorative, cross-sectional study in Germany is to characterize the prevalence, severity and quality of musculoskeletal pain in adult patients with late-onset Pompe disease (LOPD).
- Conditions
- Pompe Disease (Late-onset), Inclusion Body Myositis, Spinal Muscular Atrophy Type 3, FSHD
- Trial name
- NCT05272969
- Testing
- Beck depression inventory fast screen (Questionnaire), Brief Pain Inventory (BPI) (Questionnaire), German Pain Inventory (Questionnaire)
- Where
- Germany
- Volunteers
- 95 people
- Sponsor
- LMU Klinikum
Mucopolysaccharidosis IVA, Morquio A Syndrome
BMN 110 US Expanded Access Program
The Expanded Access Program (EAP) is an open-label, multicenter program to: 1. Provide patients who have been diagnosed with Mucopolysaccharidosis IVA (MPS IVA) access to BMN 110 until commercial product is available 2.
- Conditions
- Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01858103
- Testing
- BMN 110
- Where
- 25 sites in United States, Puerto Rico
- Sponsor
- BioMarin Pharmaceutical
Fabry Disease
Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease
Fabry Disease (FD) is a rare X-linked lysosomal storage disorder (LSD) caused by mutations in the GLA gene which translates into decreased activity or lack of function of the enzyme alpha-galactosidase A (α-GAL A) and…
- Trial name
- NCT03228940
- Testing
- RVX000222
- Where
- Canada
- Sponsor
- Resverlogix Corp
Fabry Disease
A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients
A multi-centre, multi-country, observational, non-interventional, retrospective and prospective (hybrid) study among Fabry disease participants treated with pegunigalsidase alfa (Elfabrio®) in routine clinical care.
- Trial name
- MODERN (NCT06663358)
- Testing
- Pegunigalsidase-alfa
- Where
- 10 sites in United States, Slovenia and 1 more
- Volunteers
- 100 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
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
CADASIL, CADASIL (Diagnosis)
RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)
Cerebrovascular diseases (CVDs) are one leading cause of morbidity and mortality worldwide. Despite intensive investigations, more than 30% of strokes remain of undetermined origin.
- Conditions
- CADASIL, CADASIL (Diagnosis), Moya Moya Disease, Moyamoya
- Trial name
- ALIGNED (NCT06935578)
- Where
- 17 sites in Italy
- Volunteers
- 500 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Pompe's Disease
Prevalence of Pompe's Disease in Respiratory Clinics
Pompe's disease is a very rare condition which causes weakness of the respiratory muscles and may therefore cause symptoms of breathlessness or even respiratory failure, requiring the use of a ventilator at night.
- Trial name
- PURF (NCT02527239)
- Testing
- Prospective observational study
- Volunteers
- 400 people
- Sponsor
- Royal Brompton & Harefield NHS Foundation Trust
Fabry Disease
Effects Of Sodium Glucose Cotranspoter 2 Inhibitors On Heart And Kidneys In Fabry Disease Patients
The goal of this clinical trial is to test dapagliflizone in Fabry patients. The main questions it aims to answer are: Has 10 mg/d of dapagliflozin a positive effect on kidney functions of Fabry patients.
- Trial name
- NCT05710367
- Testing
- Dapagliflozin 10mg Tab
- Volunteers
- 46 people
- Sponsor
- Albina Nowak, MD
Pompe Disease
Cognitive and Neurological Pathologies in Pompe Disease
The purpose of this study is to better understand the long-term health effects of Pompe disease and to determine if there are any abnormal changes in the brain and peripheral nerves.
- Trial name
- CNS (NCT04639336)
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- Duke University
Glycogen Storage Disease Type II
Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment
Primary Objective: To evaluate effect of 52-week treatment with Alglucosidase Alfa in the extension of survival and improvement of cardiomyopathy measured by Left Ventricular Mass Index in Chinese patients with infantile-onset…
- Trial name
- APOLLO-IOPD (NCT03687333)
- Testing
- ALGLUCOSIDASE ALFA (MYOZYME)
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Genzyme, a Sanofi Company
Type II Gaucher Disease
An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease
This exploratory trial is to prove the tolerability and safety of VGN-R08b to treat infants with type II Gaucher disease.
- Trial name
- NCT06272149
- Testing
- VGN-R08b
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Gaucher Disease, Gaucher Disease Type 1
Study of Velaglucerase Beta ERT in Children With Gaucher Disease
This is a Phase 3, multicenter, open-label, single-arm study to evaluate the safety, efficacy, PK, PD, and immunogenicity of velaglucerase beta in untreated children with GD1 or GD3 for 39 weeks.
- Conditions
- Gaucher Disease, Gaucher Disease Type 1, Gaucher Disease Type 3
- Trial name
- NCT07847411
- Testing
- Velaglucerase beta
- Where
- China
- Volunteers
- 10 people
- Sponsor
- CANbridge Life Sciences Ltd.
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II)
Late-Onset Treatment Study Extension Protocol
Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II), Glycogenesis Type II, Acid Maltase Deficiency (AMD)
- Trial name
- NCT00455195
- Testing
- alglucosidase alfa
- Where
- 31 sites in United States, Australia and 3 more
- Volunteers
- 81 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease, Lysosomal Storage Diseases
A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190
Fabry disease is a rare, X-linked inborn error of glycosphingolipid metabolism caused by an abnormal gene encoding the α-galactosidase A (αGLA) enzyme.
- Trial name
- NCT04455230
- Testing
- FLT190
- Where
- 2 sites in Germany, United Kingdom
- Volunteers
- 3 people
- Sponsor
- Spur Therapeutics
Metachromatic Leukodystrophy (MLD)
A Study of Intrathecal SHP611 in Children With Metachromatic Leukodystrophy
The main aim of the study is to determine if SHP611 given by injection into the spinal fluid that surrounds the brain and spinal cord (intrathecal; IT) prolongs the time for children with Metachromatic Leukodystrophy (MLD) to…
- Trial name
- EMBOLDEN (NCT03771898)
- Testing
- SHP611
- Where
- 30 sites in United States, Argentina and 12 more
- Volunteers
- 36 people
- Sponsor
- Shire
Glycogen Storage Disease, Pompe Disease
Pompe Lactation Sub-Registry
The objective is to determine if alglucosidase alfa is present in breast milk from mothers with Pompe Disease being treated with alglucosidase alfa and to measure breast milk production and composition in women with Pompe Disease…
- Trial name
- NCT00566878
- Testing
- alglucosidase alfa
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company