Clinical trials: Storage Disease
Gaucher Disease, Type 1
Phase III Study 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.
- Trial name
- NCT02770625
- Testing
- ISU302
- Volunteers
- 8 people
- Sponsor
- ISU Abxis Co., Ltd.
Cerebrovascular Accident, Stroke, Acute
Fabry and Cardiomyopathy (FaCard)
Primary objective and endpoint is the analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients.
- Conditions
- Cerebrovascular Accident, Stroke, Acute, Cerebral Stroke
- Trial name
- FaCard (NCT01429597)
- Where
- Germany
- Sponsor
- CENTOGENE GmbH Rostock
Morquio Disease
Establishment of Human Cellular Disease Models for Morquio Disease
Establishment of human cellular disease models for Morquio disease for an individualized therapy development having the capacity to address both hepatic and neurologic forms of the disease
- Trial name
- IPSMORQUIO (NCT03872713)
- Where
- Pakistan
- Volunteers
- 40 people
- Sponsor
- CENTOGENE GmbH Rostock
Fabry Disease
Data Collection in Women With Fabry Disease
This protocol will collect information needed to design a clinical study for the symptoms and problems of women with Fabry disease, an inherited metabolic disorder.
- Trial name
- NCT00030134
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Hurler Syndrome
Administration of IV Laronidase Post Bone Marrow Transplant in Hurler
This is a single center pilot study in which Laronidase will be given weekly for two years in patients with Hurler syndrome, also known as mucopolysaccharide IH (MPS I, Hurler syndrome), that have previously been treated with an…
- Trial name
- NCT01173016
- Testing
- Laronidase
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Glycogen Storage Disease VI, GLYCOGEN STORAGE DISEASE IXa1
GSD VI and GSD IX Natural History
Collection and review of clinical information related to Glycogen Storage Disease Type VI (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.
- Conditions
- Glycogen Storage Disease VI, GLYCOGEN STORAGE DISEASE IXa1, GLYCOGEN STORAGE DISEASE IXa2, Glycogen Storage Disease IXB
- Trial name
- NCT04454216
- Testing
- No intervention
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Duke University
Fabry Disease
A Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese Subjects
GR181413A/AT1001 (migalastat hydrochloride) is a low molecular weight iminosugar, an analog of the terminal galactose group that is cleaved from the substrate GL-3.
- Trial name
- NCT01853852
- Testing
- GR181413A/AT1001 solution, GR181413A/AT1001 capsule, Potable water
- Where
- Australia
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
Hypertension, Diet, Mediterranean
Analysis of Bioparametric Measures for Correlating Daily Habits and Reducing Blood Pressure
To study the effects of the use of a mobile application plus recommendations based on a Mediterranean diet on the intake of micronutrients from natural sources (not drugs) on health indicators, cardiovascular parameters (blood…
- Conditions
- Hypertension, Diet, Mediterranean, Cardiovascular Diseases, Exercise
- Trial name
- NCT04828655
- Testing
- Use of a mobile application based on machine learning with the aim of improving health and body composition parameters.
- Where
- Spain
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University of Alicante
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's Disease
Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells
Gaucher's disease is a lysosomal storage disease resulting from glycocerebroside GLUCOCEREBROSIDE (1) accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in patients of all ages.
- Trial name
- NCT00001234
- Testing
- human glucocerebrosidase cDNA
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Gaucher Disease
Post Marketing Surveillance (PMS) Study for Velaglucerase Alfa (VPRIV) in India
The main aim of this study is to measure the safety and to find out the effects of VPRIV in participants with Gaucher disease using both retrospective and prospective data when used in the post-marketing setting and to collect…
- Trial name
- NCT04429984
- Where
- 2 sites in India
- Volunteers
- 21 people
- Sponsor
- Shire
Fabry Disease
Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks
This open-label switchover study will assess the safety, efficacy, and pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg administered every 4 weeks for 52 weeks in Fabry patients previously treated with ERT: agalsidase…
- Trial name
- BRIGHT (NCT03180840)
- Testing
- Pegunigalsidase alfa
- Where
- 14 sites in United States, Belgium and 5 more
- Volunteers
- 30 people
- Sponsor
- Protalix
Lysosomal Storage Diseases, Metachromatic Leukodystrophy
OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD)
OTL-200 is a cryopreserved dispersion for infusion containing autologous CD34+ cell enriched population that contains haematopoietic stem and progenitor cells (HSPC) transduced ex vivo using a lentiviral vector encoding the human…
- Trial name
- NCT04283227
- Testing
- OTL-200
- Where
- Italy
- Volunteers
- 6 people
- Sponsor
- Orchard Therapeutics
Niemann-Pick Disease, Type C
Adrabetadex to Treat Niemann-Pick Type C1 (NPC1) Disease
Due to different study designs, the sponsor separated Part C into this separate registration (NCT04958642), leaving Parts A/B in NCT02534844.
- Trial name
- NCT04958642
- Testing
- Adrabetadex
- Where
- 30 sites in United States, Australia and 7 more
- Volunteers
- 66 people
- Sponsor
- Mandos LLC
Gaucher Disease
Nutritional Status of Gaucher Disease Patients
This cross-sectional study aims to evaluate the nutritional status of patients with Gaucher disease attending Assiut University Children's Hospital using anthropometric measurements and body composition analysis.
- Trial name
- NCT07845188
- Volunteers
- 84 people
- Sponsor
- Assiut University
Fabry Disease
Aortic Dimensions in Patients With Fabry Disease
We will conduct a retrospective study aiming to define the characteristics, determinants, and progression of ascending aortic dilatation in adults with Fabry disease, using echocardiography and/or cardiac MRI
- Trial name
- DATA-Fab (NCT06956573)
- Testing
- aorta imaging
- Volunteers
- 200 people
- Sponsor
- University Hospital, Caen
Cholesteryl Ester Storage Disease
National Lysosomal Acid Lipase Deficiency Study
Cholesteryl Ester Storage Disease (CESD) is an autosomal recessive lysosomal storage disorder (LSD) caused by mutations in the lysosomal acid lipase gene (LIPA) that markedly reduce lysosomal acid lipase (LAL) activity, leading…
- Trial name
- LAL-D (NCT02372513)
- Where
- Turkey (Türkiye)
- Volunteers
- 810 people
- Sponsor
- Ankara University
Krabbe Disease
Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT
This is a non-blinded, non-randomized dose escalation study of intravenous FBX-101 in which subjects will receive a single infusion of an adeno-associated virus gene therapy product, after more than 21 days of the HSCT (UCBT…
- Trial name
- REKLAIM (NCT05739643)
- Testing
- FBX-101
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Duke University
Cystinosis, Native Kidney
Cystinosis and Mitochondrial Metabolism
Cystinosis is a monogenic autosomal recessive lysosomal storage disease with complete penetrance, caused by a biallelic mutation in the CTNS gene (17p13.2) encoding cystinosin, a ubiquitous membrane protein whose role is to clear…
- Trial name
- CYSTI-MITO (NCT07319091)
- Testing
- Mitochondrial metabolism
- Where
- 9 sites in France
- Volunteers
- 25 people
- Sponsor
- Hospices Civils de Lyon
Diabetes Mellitus, Sarcoidosis
Salivary Proteins in Disease and Health
This study will examine saliva samples from healthy volunteers and patients with various diseases to learn more about how disease affects the mouth and salivary glands.
- Conditions
- Diabetes Mellitus, Sarcoidosis, Dental Caries, Sjorgren's Syndrome
- Trial name
- NCT00100204
- Where
- United States
- Volunteers
- 264 people, healthy volunteers welcome
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
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