Clinical trials: Pompe's Disease
Pompe Disease, Pompe Disease (Late-onset)
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns, infants and children with Pompe disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
- Trial name
- NCT03694561
- Testing
- Observational
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Duke University
Pompe Disease
A Pilot Study of Pyridostigmine in Pompe Disease
Pyridostigmine is an acetylcholinesterase inhibitor, which degrades acetylcholine at the neuromuscular junction. Based on recent studies, pyridostigmine may be an effective adjuvant treatment for people with Pompe disease, as it…
- Trial name
- NCT02357225
- Testing
- Pyridostigmine Bromide
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Florida
Late-onset Pompe Disease
A Study of Respiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)
Study 701-201 is a study in patients with late-onset Pompe disease (LOPD). The study will test respiratory muscle strength initially and again after 24 weeks in subjects treated or not treated with BMN 701 .
- Trial name
- NCT02191917
- Testing
- Respiratory muscle strength measurements by different techniques.
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 8 people
- Sponsor
- BioMarin Pharmaceutical
Glycogen Storage Disease Type II Pompe Disease
Avalglucosidase Alfa Extension Study
Primary Objective: Long-term safety and pharmacokinetics (PK) of avalglucosidase alfa Secondary Objective: Long-term effect of avalglucosidase alfa on pharmacodynamic variables
- Trial name
- NEO-EXT (NCT02032524)
- Testing
- Avalglucosidase Alfa
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 19 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease (Late-onset)
A Study Comparing ATB200/AT2221 With Alglucosidase Alfa/Placebo in Adult Subjects With Late-onset Pompe Disease
This is a phase 3 double-blind randomized study to study the efficacy and safety of intravenous ATB200 Co-administered with oral AT2221 in adult subjects with Late Onset Pompe Disease compared with Alglucosidase Alfa/placebo.
- Trial name
- PROPEL (NCT03729362)
- Testing
- Cipaglucosidase Alfa, Miglustat, Alglucosidase Alfa
- Where
- 73 sites in United States, Argentina and 22 more
- Volunteers
- 125 people
- Sponsor
- Amicus Therapeutics
Glycogen Storage Disease Type II
Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa
This is a single group, treatment, Phase 3, open-label study to assess efficacy, safety, pharmacokinetic (PK), pharmacodynamics (PD) of avalglucosidase alfa in treatment-naïve male and female participants with IOPD.
- Trial name
- Baby-COMET (NCT04910776)
- Testing
- avalglucosidase alfa
- Where
- 16 sites in United States, Belgium and 7 more
- Volunteers
- 17 people
- Sponsor
- Sanofi
Glycogen Storage Disease Type II, Pompe Disease (Late-onset)
Inspiratory Muscle Training (IMT) in Adult People With Pompe Disease
The goal of this multicentre, randomized and controlled cross-over trial is to evaluate the efficacy of a programme of Inspiratory Muscle Training in subjects with Late On-set Pompe Disease (LOPD).
- Trial name
- LOPD01 (NCT05951790)
- Testing
- Inspiratory Muscle Training (IMT), Inspiratory Muscle Training (IMT) + Air Stacking
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Don Carlo Gnocchi ETS
Inclusion Body Myositis, Myotonic Dystrophy
Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders
Currently, there are no standardised fall risk scores or guidelines on when to use appropriate assistive gait devices (AGDs) for people with neuromuscular disorders (NMDs).
- Conditions
- Inclusion Body Myositis, Myotonic Dystrophy, Limb-girdle and Facioscapulohumeral Muscular Dystrophies, Pompe Disease
- Trial name
- FBIndex (NCT06605612)
- Testing
- FBIndex
- Where
- Germany
- Volunteers
- 108 people
- Sponsor
- LMU Klinikum
Pompe Disease, Glycogen Storage Disease Type II (GSD-II)
Immune Tolerance Induction Study
An exploratory, open-labeled study of participants with Pompe disease, who had previously received Myozyme® (alglucosidase alfa) treatment, to evaluate the efficacy, safety and clinical benefit of 2 Immune Tolerance Induction…
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00701701
- Testing
- Myozyme® (alglucosidase alfa)
- Where
- 5 sites in United States, Israel
- Volunteers
- 4 people
- Sponsor
- Genzyme, a Sanofi Company
Pompe Disease
Muscle Response to Enzyme Replacement Therapy in Pompe Disease
This study is to study the response of muscle cells from Pompe disease after enzyme replacement therapy
- Trial name
- NCT00713453
- Where
- Taiwan
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Pompe Disease, Glycogen Storage Disease Type II
Diet and Exercise in Pompe Disease
This study examines the effects of individualized diet and exercise plans on muscle strength, quality of life and respiratory function in Pompe disease.
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II, Lysosomal Storage Diseases
- Trial name
- NCT02363153
- Testing
- Diet and Exercise
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Florida
Pompe Disease (Late-onset), Glycogen Storage Disease Type II (GSD-II)
A Study of rhGAA in Patients With Late-Onset Pompe Disease
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), Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00250939
- Testing
- Myozyme
- Where
- Netherlands
- Volunteers
- 5 people
- Sponsor
- Genzyme, a Sanofi Company
Neuromuscular Diseases, Obesity (Disorder)
Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology
The ActiLiège-Adult study is a prospective, longitudinal, observational study designed to collect natural history data on adult patients with neurological or metabolic diseases affecting movement.
- Conditions
- Neuromuscular Diseases, Obesity (Disorder), Myotonic Dystrophy 1, Myasthenic Syndrome
- Trial name
- Acti-Adult (NCT07136844)
- Testing
- Syde, Dynamometric measurements of muscle strength, The 6-minute walk test (6MWT)
- Where
- Belgium
- Volunteers
- 300 people
- Sponsor
- Centre Hospitalier Universitaire de Liege
Pompe Disease
A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07787650
- Testing
- S-606001
- Volunteers
- 15 people
- Sponsor
- Shionogi
Pompe's Disease
Prevalence of Heterozygote Mothers for Pompe's Disease Among Mothers Having Delivered in French Guiana
Given the high incidence of Pompe's Disease in French Guiana (100 times higher than in mainland France) the aim is to determine the prevalence of heterozygotes among women having just delivered in French Guiana who accepted that…
- Trial name
- DEPIPOMP2 (NCT02903654)
- Testing
- observational
- Volunteers
- 925 people
- Sponsor
- Centre Hospitalier de Cayenne
Pompe Disease
Extension Study for Patients Who Have Participated in a BMN 701 Study
This is a Phase 2 open-label, multiple dose study of BMN 701 administered by IV infusion every 2 weeks (qow) to patients with late-onset Pompe disease.
- Trial name
- NCT01435772
- Testing
- BMN 701
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 21 people
- Sponsor
- BioMarin Pharmaceutical
Age-related Macular Degeneration
Prophylactic Ranibizumab for Exudative Age-related Macular Degeneration
This study will determine whether quarterly injections of Ranibizumab may prevent eyes with dry age-related macular degeneration from progressing to wet age-related macular degeneration (AMD).
- Trial name
- PREVENT (NCT02140151)
- Testing
- Ranibizumab 0.5mg
- Where
- 4 sites in United States
- Volunteers
- 108 people
- Sponsor
- Southern California Desert Retina Consultants, MC
Pompe Disease (Late-onset)
A Study to Assess the Long-term Safety and Efficacy of ATB200/AT2221 in Adult Subjects With Late-Onset Pompe Disease (LOPD)
This is a multicenter, international open-label extension study of ATB200/AT2221 in adult subjects with late-onset Pompe disease (LOPD) who completed Study ATB200-03.
- Trial name
- NCT04138277
- Testing
- AT2221, ATB200
- Where
- 60 sites in United States, Argentina and 21 more
- Volunteers
- 119 people
- Sponsor
- Amicus Therapeutics
Pompe Disease
A Long-term Study for the Outcome of Pompe Disease
Prospectively follow patients with Pompe disease underwent enzyme replacement therapy.
- Trial name
- NCT02399748
- Where
- Taiwan
- Volunteers
- 50 people
- Sponsor
- National Taiwan University Hospital
Pompe Disease, McArdle Disease
Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study.
Previous studies have indicated that 13C-MRS in the ultra-high 7T magnetic resonance (MR) field is a potential non-invasive measurement method for assessing changes in muscle glycogen levels in PoD patients.
- Trial name
- POMPE (NCT05943678)
- Testing
- Siemens Magnetom 7T Plus
- Where
- Austria
- Volunteers
- 30 people
- Sponsor
- Medical University of Vienna