Clinical trials: Storage Disease
Metachromatic Leukodystrophy (MLD)
Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
Objectives: The overall objective is to evaluate the safety, efficacy and pharmacokinetics (PK) of rhASA treatment in patients with late infantile MLD.
- Trial name
- NCT00418561
- Testing
- rhASA - Dose Level 1, rhASA - Dose Level 2, rhASA - Dose Level 3
- Where
- Denmark
- Volunteers
- 13 people
- Sponsor
- Shire
Anemia
RBC Transfusion in Severe Anemia With Lactic Acidosis
The hypothesis of this study is that prolonged-storage RBCs are not inferior to short-storage RBCs for the time required to clear elevated blood lactate levels in children with severe anemia.
- Trial name
- TOTAL (NCT01586923)
- Testing
- RBC transfusion
- Where
- Uganda
- Volunteers
- 290 people
- Sponsor
- Massachusetts General Hospital
Iron-deficiency
to Assess the Effect of Early vs Routine Iron Supplementation on Iron Store and Growth in Term Infants
Term infants (Small for Gestational Age and Appropriate for Gestational Age) would be randomized to receive oral iron supplementation from 6 weeks and 6 months.
- Trial name
- NCT03171324
- Testing
- Iron Supplement
- Where
- India
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Deepanjan Bhattacharya
Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy Syndrome)
Mucopolysaccharidosis (MPS) VI Clinical Surveillance Program (CSP)
The objectives of this program are: to further characterize the natural progression of MPS VI disease; to generate and disseminate information on the care and management of MPS VI patients to clinical and medical professionals…
- Trial name
- NCT00214773
- Where
- 50 sites in United States, Australia and 11 more
- Volunteers
- 237 people
- Sponsor
- BioMarin Pharmaceutical
Brain and Central Nervous System Tumors
Study of Stored Tumor Samples in Young Patients With Brain Tumors
This laboratory study is looking at stored tumor samples in young patients with brain tumors. Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in…
- Trial name
- NCT00897286
- Where
- United States
- Volunteers
- 139 people
- Sponsor
- St. Jude Children's Research Hospital
Mucopolysaccharidosis III-A
Phase I/II Study of JR-441 in Patients With Mucopolysaccharidosis Type IIIA
A Phase I/ II, open-label, randomized, 2-arm study, designed to evaluate the safety and explore efficacy of the study drug in development for the treatment of MPS IIIA patients.
- Trial name
- NCT06095388
- Testing
- JR-441
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Pompe Disease
High Risk Screen of Childhood Late-onset Pompe Disease in Pediatric Outpatient Clinics
Establish of high-risk screening criteria to earlier identify possible childhood LOPD for early treatment and better prognosis. Therefore, validation of the high-risk screening criteria for childhood LOPD will be critical for…
- Trial name
- NCT04981210
- Where
- Taiwan
- Volunteers
- 1,500 people
- Sponsor
- National Taiwan University Hospital
Glycogen Storage Disease Type IB
Prospective Collection of Biospecimen in Pediatric Patients and Adult Guardians Diagnosed With Glycogen Storage Disease Type 1B (GSD1b)
The primary objective of this study is to collect whole blood from patients diagnosed with Glycogen storage disease type 1B, which will be used to support the investigation of potential therapies that address the genetic basis of…
- Trial name
- NCT05915910
- Testing
- Specimen Donation
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Sanguine Biosciences
Fabry Disease
A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease
Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) and how migalastat works in participants with Fabry disease.
- Trial name
- NCT00283959
- Testing
- migalastat HCl
- Where
- 2 sites in Australia, Brazil
- Volunteers
- 4 people
- Sponsor
- Amicus Therapeutics
Gaucher Disease, Type 1, Cerebroside Lipidosis Syndrome
Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease
This is a multicenter, randomized trial to compare the safety and efficacy of two dosing frequencies of Cerezyme® in patients with Gaucher disease who are currently being treated with Cerezyme®.
- Conditions
- Gaucher Disease, Type 1, Cerebroside Lipidosis Syndrome, Glucocerebrosidase Deficiency Disease, Glucosylceramide Beta-Glucosidase Deficiency Disease
- Trial name
- NCT00364858
- Testing
- Cerezyme
- Where
- 26 sites in United States, Brazil and 5 more
- Volunteers
- 95 people
- Sponsor
- Genzyme, a Sanofi Company
Nephropathic Cystinosis, Cystinosis
Pilot Study of TTI-0102 in Cystinosis
White blood cell (WBC) cystine levels serve as the primary therapeutic target for monitoring cysteamine treatment in cystinosis, with a goal of <1.9 nmol ½ cystine/mg protein as measured 5-6 hours post-dose when treated with…
- Trial name
- NCT07837726
- Testing
- TTI-0102 (cysteamine-pantetheine disulfide)
- Volunteers
- 6 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
Ischemic Stroke Hospitalized
Fabry : National Initiative of Screening
Fabry disease is a genetic disease due to an enzymatic deficit. A screening of this disease allows patients to benefit from an enzyme replacement therapy and prevent the occurrence of life threatening manifestations such as an…
- Trial name
- FIND (NCT00484549)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 889 people
- Sponsor
- University Hospital, Clermont-Ferrand
Farber Disease, Farber's Disease
Farber Disease Natural History Study
The primary objective of this study is to establish the natural history of Farber disease (acid ceramidase deficiency) through the collection and analysis of retrospective and prospective data on patients diagnosed with Farber…
- Conditions
- Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency
- Trial name
- NCT03233841
- Where
- 15 sites in United States, Argentina and 7 more
- Volunteers
- 45 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Mucopolysaccharidosis Type III A, Sanfilippo Disease Type A
Intracerebral Gene Therapy for Sanfilippo Type A Syndrome
The clinical trial P1-SAF-301 is an open-label, single arm, monocentric, phase I/II clinical study evaluating the tolerance and the safety of intracerebral administration of adeno-associated viral vector serotype 10 carrying the…
- Trial name
- NCT01474343
- Testing
- SAF-301
- Where
- 2 sites in France
- Volunteers
- 4 people
- Sponsor
- LYSOGENE
Glycogen Storage Disease Type V, McArdle Disease
Sodium Valproate for GSDV
McArdle disease is a metabolic myopathy characterised by the absence of glycogen phosphorylase in skeletal muscle. Sodium Valproate is part of a group of drugs known as histone deacetylase inhibitors, which have a direct effect…
- Trial name
- NCT03112889
- Testing
- Sodium Valproate
- Where
- 2 sites in Denmark, United Kingdom
- Volunteers
- 8 people
- Sponsor
- University College, London
Cystinosis
Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients
The primary objective of the study is to evaluate the change in motor function of patients with cystinosis. The secondary objectives of the study: assessment of the respiratory function; assessment of the muscle function…
- Trial name
- Cystinose (NCT05545774)
- Where
- 2 sites in France
- Volunteers
- 20 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Gaucher Disease
SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease
This project is expected to elucidate role of different therapeutic interventions: SRT in comparison to ERT in influencing immune aspects of GD pathology, as well as bone involvement.
- Trial name
- NCT02605603
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
MPS II, Hunter Syndrome (MPS II)
An Extension Study to Assess the Long-term Safety and Efficacy of Hunterase (Idursulfase Beta)
The objective of this study is to assess the long-term safety and efficacy of Hunterase for approximately 1 year in subjects who completed the end of study (EOS) visit (Visit 54) tests in the Phase 3 Hunterase study and patients…
- Conditions
- MPS II, Hunter Syndrome (MPS II), Hunter Syndrome, Hunterase
- Trial name
- NCT07344376
- Testing
- Hunterase
- Where
- South Korea
- Volunteers
- 30 people
- Sponsor
- GC Biopharma Corp
Lung Cancer
S9925: Collecting and Storing Samples From Patients With Lung Cancer
RATIONALE: Collecting and storing samples of tissue, blood, and sputum from patients with cancer to study in the laboratory may help the study of cancer in the future.
- Trial name
- NCT00920010
- Testing
- biologic sample preservation procedure
- Where
- 431 sites in United States
- Volunteers
- 2,264 people
- Sponsor
- SWOG Cancer Research Network
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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