Clinical trials: Lysosomal Storage Disorders, active
Sickle Cell Disease, Thalassemia
RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)
Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation.
- Conditions
- Sickle Cell Disease, Thalassemia, Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder, Anemia Due to Membrane Defect
- Trial name
- RADeep (NCT06213402)
- Testing
- Data collection from EHR.
- Where
- Spain
- Volunteers
- 32,564 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
Fabry Disease
A Study of Patients With Fabry Disease (US Specific)
This is an observational study to evaluate the effects of treatment on long-term effectiveness, safety, and health-related quality of life (HRQOL) in patients with Fabry disease, with a main focus on migalastat.
- Trial name
- NCT06906367
- Testing
- migalastat HCl, ERT
- Where
- 8 sites in United States
- Volunteers
- 450 people
- Sponsor
- Amicus Therapeutics
Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia
Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
To identify the most common underlying causes of non-inflammatory arthropathy in children presenting to Assiut University Children Hospital for through clinical evaluation, laboratory testing, and imaging, in order to improve…
- Conditions
- Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia, Farber Disease, Osteogenesis Imperfecta
- Trial name
- NCT07173010
- Volunteers
- 35 people
- Sponsor
- Assiut University
Gaucher Disease, Type I, Gaucher Disease, Type III
Gaucherite - A Study to Stratify Gaucher Disease
The purpose of this research is to review data already collected and to collect new data from adults and children in England with Gaucher Disease to determine clinical factors which predict severity and response to therapy of…
- Trial name
- Gaucherite (NCT03240653)
- Testing
- Stratified response to Enzyme Therapy
- Where
- 8 sites in United Kingdom
- Volunteers
- 250 people
- Sponsor
- Cambridge University Hospitals NHS Foundation Trust
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues.
- Conditions
- GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
- Trial name
- Imagine-1 (NCT04713475)
- Testing
- PBGM01
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 26 people
- Sponsor
- Gemma Biotherapeutics
Fabry Disease
Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-Gal A resulting from mutations affecting the GLA gene.
- Trial name
- NCT05698901
- Testing
- Agalsidase beta
- Where
- Taiwan
- Volunteers
- 150 people
- Sponsor
- Mackay Memorial Hospital
Pompe Disease (Late-onset)
Gene Transfer Study in Patients With Late Onset Pompe Disease
This is a phase 1/2 open-label, ascending dose, multicenter clinical study to evaluate the safety and efficacy of AT845 in adult (aged ≥ 18 years) subjects, ambulatory or nonambulatory, with Late Onset Pompe Disease (LOPD).
- Trial name
- FORTIS (NCT04174105)
- Testing
- zocaglusagene nuzaparvovec
- Where
- 4 sites in United States, United Kingdom
- Volunteers
- 11 people
- Sponsor
- Astellas Gene Therapies
Intermediate AMD
A Clinical Trial Evaluating the Safety and Efficacy of a New Light Combination Therapy Addressing Intermediate AMD
The proposed clinical investigation wants primary to validate the safety of the innovative light therapy approach and in second priority provide insight and confirmations on therapeutic effect.
- Trial name
- retinaSEES-PoC (NCT06557369)
- Testing
- reSEES
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- Oculox Technologies SA
Mucopolysaccharidosis III-B
An Open-label Phase I/II Study of JR-446 in Mucopolysaccharidosis Type IIIB
A Phase I/ II, open-label study, designed to evaluate the safety and explore efficacy of the study drug in development for the treatment of MPS IIIB patients.
- Trial name
- NCT06488924
- Testing
- JR-446
- Where
- 4 sites in Japan
- Volunteers
- 10 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
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.
Mucopolysaccharidosis II
An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II
A Phase II open-label, parallel group, 2 sites (Brazil), designed to evaluate the long term safety and efficacy of study drug for the treatment of the MPS II.
- Trial name
- NCT03708965
- Testing
- JR-141
- Where
- 2 sites in Brazil
- Volunteers
- 19 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Pompe Disease
A Global Prospective Observational Registry of Patients With Pompe Disease
This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD).
- Trial name
- NCT06121011
- Testing
- Cipaglucosidase alfa, Miglustat, Alglucosidase alfa or Avalglucosidase alfa
- Where
- 41 sites in United States, Austria and 10 more
- Volunteers
- 500 people
- Sponsor
- Amicus Therapeutics
Fabry Disease
Agalsidase Beta Long-Term Treatment Outcome for Fabry Disease Patients With IVS4 Mutation in Taiwan
This is a national, multicenter, observational, cohort study designed to assess clinical outcomes upon agalsidase beta treatment, to characterize the clinical manifestations, and to collect the natural history on male and female…
- Trial name
- NCT06052800
- Where
- 5 sites in Taiwan
- Volunteers
- 78 people
- Sponsor
- Sanofi
Neurological Regression, Myoclonus
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Study description: This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis.
- Conditions
- Neurological Regression, Myoclonus, Cherry Red Spot, Brain Atrophy
- Trial name
- NCT00029965
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
MPS IVA, MPS VI
Safety and Efficacy of Voxzogo for Growth Deficits in MPS IVA and VI
This is a Phase I/II, single arm, open label study of vosoritide therapy provided subcutaneously at 15 ug/kg/day for 96 weeks to 6 patients with MPS IVA or VI.
- Trial name
- NCT05845749
- Testing
- Vosoritide Injection [Voxzogo]
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of California, San Francisco
Gaucher Disease Type 3
A Phase I/II Clinical Study to Evaluate the Safety and Efficacy of VGN-R08b in Patients With Type III Gaucher's Disease
A phase I/II clinical study to evaluate the tolerance, safety and efficacy of VGN-R08b intracerebroventricular injection in patients with type III Gaucher's disease
- Trial name
- NCT07603050
- Testing
- VGN-R08b
- Volunteers
- 12 people
- Sponsor
- Shanghai Vitalgen BioPharma Co., Ltd.
Mucopolysaccharidosis II
Long-term Follow-Up for RGX-121
RGX-121-5101 is an observational long-term follow-up study to the RGX-121-101 or RGX-121-1102 studies where participants received RGX-121, a gene therapy intended to deliver a functional copy of the iduronate-2-sulfatase gene…
- Trial name
- NCT04597385
- Testing
- Long-term Follow-Up
- Where
- 4 sites in United States, Brazil
- Volunteers
- 27 people
- Sponsor
- REGENXBIO Inc.
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases.
- Conditions
- Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Congenital Myopathy
- Trial name
- ARNseq-Musc (NCT06833489)
- Testing
- ARN extraction from muscle biopsies
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Splenomegaly, Splenectomy
Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease
The goal of this clinical trial is to optimise and facilitate screening for Acid SphingoMyelinase Deficiency (ASMD) disease, by evaluating acid sphingomyelinase activity and, where appropriate, LysoSM levels in a cohort of 200…
- Conditions
- Splenomegaly, Splenectomy, Thrombopenia, Interstitial Lung Disease (ILD)
- Trial name
- Niemann-PID (NCT06869499)
- Testing
- Blood sampling for dosage
- Where
- France
- Volunteers
- 200 people
- Sponsor
- Wladimir MAUHIN, Dr
Hypochondroplasia
Prospective Clinical Assessment Study in Children With Hypochondroplasia
This is a long-term, multicenter, non-interventional study of children ages 2.5 to <17 years with hypochondroplasia (HCH).
- Trial name
- HCH (NCT06410976)
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 150 people
- Sponsor
- QED Therapeutics, a BridgeBio company