Clinical trials: Storage Disease
Adrenoleukodystrophy
Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the clinical efficacy of combination glyceryl trierucate and glyceryl trioleate (Lorenzo's Oil) therapy in boys with X-linked adrenoleukodystrophy. II.
- Trial name
- NCT00004418
- Testing
- glyceryl trierucate/glyceryl trioleate
- Where
- 2 sites in United States
- Volunteers
- 126 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Gaucher Disease, Type III
Eliglustat on Gaucher Disease Type IIIB
Evaluation of the safety in the combination usage of Cerdelga and Cerezyme in type III Gaucher disease patients and the efficacy on soft tissue diseases.
- Trial name
- NCT03519646
- Testing
- Eliglustat
- Where
- Taiwan
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Fabry Disease
Detection of Fabry Disease in Chronic Renal Failure Patients in Area Provence - Alpes - Côte d'Azur
Fabry disease is a rare genetic disease characterized by an enzyme deficiency, called alpha-galactosidase A, which normally breaks down a lipid, is missing or does not function properly.
- Trial name
- NCT01374997
- Testing
- micromethod from samples taken from blood spots on filter paper
- Where
- France
- Volunteers
- 6 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Fabry Disease
Care Pathway for Patients With Fabry's Disease (Fabry-PATH)
Fabry's disease is an X-linked disorder that manifests differently in men and women, leading to differences in healthcare pathways.
- Trial name
- Fabry-PATH (NCT07485660)
- Testing
- Self-questionnaire
- Where
- France
- Volunteers
- 200 people
- Sponsor
- University Hospital, Toulouse
Metachromatic Leukodystrophy (MLD)
A Study to Learn About Metachromatic Leukodystrophy (MLD) in Children in Spain
The main aim of this study is to learn about metachromatic leukodystrophy (MLD) in children and teenagers in Spain. This includes checking the number of new MLD cases and the frequency of children with MLD in 2022 in Spain.
- Trial name
- mECHromatic (NCT05755568)
- Testing
- No Intervention
- Where
- 10 sites in Spain
- Sponsor
- Takeda
GM2 Gangliosidosis, Supportive Care
Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD)
GM2 gangliosidosis is an autosomal recessive subtype of Lysosomal Storage Diseases in which, Hexosaminidase A-B deficiency is caused by HEXA-B gene.
- Trial name
- EMTISTD (NCT03822013)
- Testing
- Miglustat
- Where
- 3 sites in Iran
- Volunteers
- 30 people
- Sponsor
- Tehran University of Medical Sciences
Hunter Syndrome
A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in India
The main aim of this study is to learn more about the safety profile of Elaprase in Indian children and adults with hunter syndrome.
- Trial name
- NCT05058391
- Testing
- Elaprase
- Where
- 5 sites in India
- Volunteers
- 5 people
- Sponsor
- Takeda
Albinism, Inborn Errors of Metabolism
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome (HPS) is an inherited disease that results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal…
- Conditions
- Albinism, Inborn Errors of Metabolism, Oculocutaneous Albinism, Platelet Storage Pool Deficiency
- Trial name
- NCT00001596
- Testing
- Pirfenidone
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- William Gahl, M.D.
Ann Arbor Stage I Childhood Hodgkin Lymphoma, Ann Arbor Stage II Childhood Hodgkin Lymphoma
Collecting and Storing Biological Samples From Young Patients With Hodgkin?s Lymphoma
This laboratory study is collecting and storing samples of tissue and blood from young patients with Hodgkin's lymphoma. Collecting and storing samples of tumor tissue and blood from patients with cancer to study in the…
- Conditions
- Ann Arbor Stage I Childhood Hodgkin Lymphoma, Ann Arbor Stage II Childhood Hodgkin Lymphoma, Ann Arbor Stage III Childhood Hodgkin Lymphoma, Ann Arbor Stage IV Childhood Hodgkin Lymphoma
- Trial name
- NCT00900250
- Testing
- Cytology Specimen Collection Procedure
- Where
- 183 sites in United States, Australia and 2 more
- Volunteers
- 1,271 people
- Sponsor
- Children's Oncology Group
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
Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR)
This is the first in human treatment with ST-920, an adeno-associated virus (AAV2/6) vector encoding the complementary deoxyribonucleic acid (cDNA) for human a-Gal A.
- Trial name
- NCT04046224
- Testing
- ST-920
- Where
- 18 sites in United States, Australia and 5 more
- Volunteers
- 36 people
- Sponsor
- Sangamo Therapeutics
Lysosomal Storage Diseases
Screening of Lysosomal Storage Disorders Diseases in Minority Groups
Aim is to undertake a screening study that identifies undiagnosed patients with LSDs and determine the prevalence of these diseases with special focus on underrepresented minority groups.
- Trial name
- NCT03812042
- Testing
- Enzyme assay and molecular sequencing
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Mucopolysaccharidosis II
Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS II
Phase 1, open-label, sequential ascending dose-escalation study. Designed to evaluate the safety and efficacy of a single IV infusion of investigational gene therapy HMI-203.
- Trial name
- NCT05238324
- Testing
- Genetic HMI-203
- Where
- 6 sites in United States, Canada
- Sponsor
- Homology Medicines, Inc
Fabry Disease
Screening of Fabry Disease in Patients With GI Symptoms
Fabry disease screening study in patients diagnosed with gastrointestinal tract (GIT) disease, i.e. with the diagnosis of non-infectious inflammatory bowel disease, functional dyspepsia or irritable bowel syndrome in particular…
- Trial name
- GiFD (NCT04184986)
- Testing
- dry blood test
- Where
- Czechia
- Volunteers
- 200 people
- Sponsor
- General University Hospital, Prague
Pompe Disease (Late-onset), Inclusion Body Myositis
Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease
The primary aim of this nationwide, explorative, cross-sectional study in Germany is to characterize the prevalence, severity and quality of musculoskeletal pain in adult patients with late-onset Pompe disease (LOPD).
- Conditions
- Pompe Disease (Late-onset), Inclusion Body Myositis, Spinal Muscular Atrophy Type 3, FSHD
- Trial name
- NCT05272969
- Testing
- Beck depression inventory fast screen (Questionnaire), Brief Pain Inventory (BPI) (Questionnaire), German Pain Inventory (Questionnaire)
- Where
- Germany
- Volunteers
- 95 people
- Sponsor
- LMU Klinikum
GM2 Gangliosidosis
A Natural History of Late Onset Tay-Sachs Disease
The purpose of this study is to learn more about the natural history of Late Onset GM2 Gangliosidosis (Tay-Sachs disease and Sandhoff Disease) to inform future clinical trials.
- Trial name
- NCT02851862
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Massachusetts General Hospital
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
Acute Undifferentiated Leukemia, Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative
Collecting and Storing Malignant, Borderline Malignant Neoplasms, and Related Samples From Young Patients With Cancer
This study is collecting and storing malignant, borderline malignant neoplasms, and related biological samples from young patients with cancer.
- Conditions
- Acute Undifferentiated Leukemia, Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative, Childhood Acute Lymphoblastic Leukemia, Childhood Acute Myeloid Leukemia
- Trial name
- NCT00898079
- Testing
- Cytology Specimen Collection Procedure
- Where
- 192 sites in United States, Australia and 4 more
- Volunteers
- 2,545 people
- Sponsor
- Children's Oncology Group
Glycogen Storage Disease Type IA, Von Gierke's Disease (GSD Type Ia)
Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type Ia
The primary objective of this study is to determine the long-term safety of DTX401 following a single intravenous (IV) dose in adults with GSDIa.
- Trial name
- NCT03970278
- Testing
- No intervention
- Where
- 6 sites in United States, Canada and 2 more
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
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