Clinical trials: Lysosomal Storage Disease
Pompe Disease
A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
The objective of this study was to evaluate the efficacy and safety of treatment with 4000 litre (L) alglucosidase alfa (Lumizyme®) in Pompe participants.
- Trial name
- NCT01526785
- Testing
- Alglucosidase alfa
- Where
- 51 sites in United States
- Volunteers
- 113 people
- Sponsor
- Genzyme, a Sanofi Company
Farber's Lipogranulomatosis, Ceramidase Deficiency
Biomarker for Farber Disease (BioFarber)
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Farber disease from the blood
- Conditions
- Farber's Lipogranulomatosis, Ceramidase Deficiency, Hepatomegaly, Splenomegaly
- Trial name
- BioFarber (NCT02298634)
- Where
- 3 sites in Egypt, Germany and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Niemann-Pick Disease, Type C1
Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1
A prospective, randomized, double-blind, placebo controlled, multi-center therapeutic study for patients age 3 and older with confirmed diagnosis of Niemann Pick disease type C1 (NPC1).
- Trial name
- TransportNPC (NCT04860960)
- Testing
- Hydroxypropyl-beta-cyclodextrin
- Where
- 35 sites in United States, Argentina and 11 more
- Volunteers
- 94 people
- Sponsor
- Cyclo Therapeutics, Inc.
Fabry Disease
4D-310 in Adults With Fabry Disease and Cardiac Involvement
This is a prospective multicenter, open-label, dose-escalation trial to assess the safety, tolerability, and pharmacodynamics of 4D-310 following a single IV administration.
- Trial name
- NCT05629559
- Testing
- 4D-310
- Where
- 4 sites in Australia, Taiwan
- Volunteers
- 18 people
- Sponsor
- 4D Molecular Therapeutics
Achondroplasia
A Study Of Safety, Tolerability And Effectiveness Of Recifercept In Children With Achondroplasia
Approximately 63 participants will be randomized to one of three doses to receive Recifercept either Low Dose Medium Dose High Dose Participants will will attend the clinic at baseline and at Day 1, 4, 8, 15, 29 \& then Month 2…
- Trial name
- NCT04638153
- Testing
- Recifercept
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 60 people
- Sponsor
- Pfizer
Gaucher Disease
Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different…
- Trial name
- NCT00351156
- Testing
- Blood sample
- Where
- 7 sites in United States
- Volunteers
- 50 people
- Sponsor
- Amicus Therapeutics
Gaucher Disease, Type 3
High-Dose Ambroxol in Pediatric Type III Gaucher Disease (GD3)
Type: Prospective, open-label, single center study Duration: 6 months with an optional 12-month extension phase Participants: 12 pediatric patients diagnosed with type III Gaucher disease (GD3) aged ≥3 to ≤18 years old treatment…
- Trial name
- NCT07285369
- Testing
- Ambroxol
- Where
- Pakistan
- Volunteers
- 12 people
- Sponsor
- Agyany Pharma LTD
Fabry Disease
Evaluate the Safety and Efficacy of Fabagal® (Agalsidase Beta) in Patients With Fabry Disease
Evaluate the safety and efficacy of Fabagal® developed by ISU ABXIS Co., Ltd., which has similar efficacy to active comparator (Agalsidase beta).
- Trial name
- NCT06081062
- Testing
- Fabagal® (Agalsidase beta), Active comparator (Agalsidase beta)
- Where
- 3 sites in Philippines, South Korea
- Volunteers
- 24 people
- Sponsor
- ISU Abxis Co., Ltd.
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Hunter Syndrome, Mucopolysaccharidosis II
Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy
The objective of this study is to determine the safety of once weekly dosing of idursulfase 0.5 mg/kg administered by intravenous (IV) infusion for male Hunter syndrome patients ≤ 5 years old.
- Conditions
- Hunter Syndrome, Mucopolysaccharidosis II, MPS II
- Trial name
- NCT00607386
- Testing
- Idursulfase
- Where
- 3 sites in Brazil, Poland and 1 more
- Volunteers
- 28 people
- Sponsor
- Shire
Morquio Syndrome, Accumulation of Mucopolysaccharides
Biomarker for Morquio Disease (BioMorquio)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from plasma
- Conditions
- Morquio Syndrome, Accumulation of Mucopolysaccharides, Morquio Syndrome A, Morquio B Disease
- Trial name
- BioMorquio (NCT01457456)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
Inherited Metabolic Disorders IMD
Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)
This study is designed to assess the safety and exploratory efficacy of using HSC835 in patients with Inherited Metabolic Disorders (IMD) undergoing stem cell transplantation.
- Trial name
- NCT02715505
- Testing
- Umbilical cord blood transplantation with HSC835
- Sponsor
- Novartis Pharmaceuticals
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
Gaucher Disease
A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease
The purpose of this study is to evaluate the safety and efficacy of ISU302 in patients with Type 1 Gaucher disease previously treated with Imiglucerase.
- Trial name
- NCT02053896
- Volunteers
- 5 people
- Sponsor
- ISU Abxis Co., Ltd.
MPS III B
Safety, Tolerability and Efficacy of ICV AX 250 Treatment in MPS IIIB -OLE
This is a Phase 3B/4, multicenter, multinational, open label study to further evaluate intracerebroventricular (ICV) delivered AX 250 treatment in MPS IIIB subjects that complete Study 250-202 for up to an additional 3 years (144…
- Trial name
- NCT05492799
- Testing
- AX 250
- Where
- 6 sites in United States, Colombia and 3 more
- Volunteers
- 15 people
- Sponsor
- Allievex Corporation
Gaucher Disease
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)
The primary objective of this study was to evaluate the efficacy and safety of once daily (QD) versus twice daily (BID) dosing of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who had demonstrated…
- Trial name
- NCT01074944
- Testing
- Eliglustat tartrate
- Where
- 46 sites in United States, Australia and 15 more
- Volunteers
- 170 people
- Sponsor
- Genzyme, a Sanofi Company
Mucopolysaccharidosis Type IIIB, MPS III B
A Treatment Extension Study of Mucopolysaccharidosis Type IIIB
The primary objectives of this study are to evaluate the long-term safety and tolerability of AX 250 administered to subjects with MPS IIIB by an implanted ICV reservoir and catheter and to evaluate the impact of long-term AX 250…
- Trial name
- NCT03784287
- Testing
- AX 250
- Where
- 8 sites in United States, Colombia and 5 more
- Volunteers
- 20 people
- Sponsor
- Allievex Corporation
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.
Niemann-Pick Disease, Type C
Early Access Program With Arimoclomol in US Patients With NPC
NPC is a rare, relentlessly progressive, neurological disease and associated with serious morbidity and shortened life expectancy.
- Trial name
- NCT04316637
- Testing
- Arimoclomol
- Where
- 13 sites in United States
- Sponsor
- ZevraDenmark