Clinical trials: Sialidosis
Skeletal Abnormalities, Psychomotor Retardation
Biomarker for Mucolipidosis Disorder Type I, II, III, IV (BioML)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Mucolipidosis Disorder type I,II,III or IV from blood (plasma)
- Trial name
- BioML (NCT02298673)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Mucolipidosis Type IV
Safety and Efficacy of AAV9. hMCOLN1co For Patients With Mucolipidosis Type IV
Safety and Efficacy of AAV9.hMCOLN1co for patients with Mucolipidosis Type IV(MLIV): A Single-Center, Interventional, Open-Label, Single-Arm Clinical Study.
- Trial name
- AAV9-hMCOLN1 (NCT07398872)
- Testing
- AAV9.hMCOLN1co
- Where
- China
- Volunteers
- 1 people
- Sponsor
- The Children's Hospital of Zhejiang University School of Medicine
Mucolipidosis Type IV
The Natural History and Pathogenesis of Mucolipidosis Type IV
Mucolipidosis Type IV (ML-IV) is a metabolic disorder that causes mental and motor retardation as well as visual impairment. There is storage of material in practically all the cells of the body, causing problems in the brain and…
- Trial name
- NCT00015782
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Observational Study
The Natural History of Sialidosis Type I
Sialidosis type 1 is an autosomal recessive disorder caused by bialleic NEU1 gene mutations. Patients with sialidosis type I present variable neurological and eye dysfunction and the progression rate is variable.
- Trial name
- NCT06316752
- Testing
- Observational study
- Where
- Taiwan
- Volunteers
- 30 people
- Sponsor
- National Taiwan University Hospital
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)
Adrenoleukodystrophy, Metachromatic Leukodystrophy
HSCT for High Risk Inherited Inborn Errors
Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD, or Krabbe disease).
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease
- Trial name
- NCT00383448
- Testing
- Clofarabine, Total body Irradiation, Melphalan
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Galactosialidosis
Characterization of the Patient Population With Galactosialidosis
The late infantile form of galactosialidosis is potentially amenable to treatment by gene transfer with an adeno-associated viral vector encoding Protective Protein Cathepsin A (PPCA) or by infusion of purified protein.
- Trial name
- CPPGAL (NCT01416467)
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- St. Jude Children's Research Hospital
Aspartylglucosaminuria, Fucosidosis
Longitudinal Studies of the Glycoproteinoses
The glycoproteinoses are among the most rare and least researched of the lysosomal diseases. The diseases include aspartylglucosaminuria, fucosidosis, galactosialidosis, alpha-mannosidosis, beta-mannosidosis, mucolipidosis II…
- Conditions
- Aspartylglucosaminuria, Fucosidosis, Galactosialidosis, Alpha Mannosidosis
- Trial name
- NCT01891422
- Testing
- Non-interventional.
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Greenwood Genetic Center
I Cell Disease, Fucosidosis
Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory…
- Conditions
- I Cell Disease, Fucosidosis, Globoid Cell Leukodystrophy, Adrenoleukodystrophy
- Trial name
- NCT00005900
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Fairview University Medical Center
Mucolipidosis Type IV
The Natural History of Mucolipidosis Type IV
The purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures.
- Trial name
- NCT01067742
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Baylor Research Institute
Mucopolysaccharidosis I, Mucopolysaccharidosis VI
Stem Cell Transplantation for Hurler
The purpose of this study is to determine the safety and engraftment of donor hematopoietic cells using this conditioning regimen in patients undergoing a hematopoietic (blood forming) cell transplant for Hurler syndrome…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Mannosidosis, Mucolipidosis Type II (I-cell Disease)
- Trial name
- NCT00176917
- Testing
- Stem Cell Transplant, Busulfan, Cyclophosphamide, ATG
- Where
- United States
- Volunteers
- 41 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Gangliosidoses, GM1 Gangliosidosis
Registry Gangliosidoses
The clinical project "Eight At One Stroke: Attention Gangliosidoses" represents a clinical registry for recording the clinical manifestation and the disease progression of gangliosidoses.
- Conditions
- Gangliosidoses, GM1 Gangliosidosis, Morquio B Disease, Sialidosis
- Trial name
- NCT04624789
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt)
Fructose Metabolism, Inborn Errors, Glycogen Storage Disease
Biomarker for Glycogen Storage Diseases (BioGlycogen)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.
- Conditions
- Fructose Metabolism, Inborn Errors, Glycogen Storage Disease, Glycogen Storage Disease Type I, Glycogen Storage Disease Type II
- Trial name
- BioGlycogen (NCT02385162)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Mucolipidosis Type IV
Mucolipidosis Type IV Natural History Study
The primary objectives of the study are: to describe the characteristics of the current international MLIV population; to define the median age at which patients with MLIV achieve or lose developmental milestones; to define the…
- Trial name
- NCT05782387
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Massachusetts General Hospital
Inherited Metabolic Diseases, Lysosomal Storage Disorders
ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
Eligible research subjects will receive an unrelated umbilical cord blood transfusion as a possible cure for their inherited metabolic disease.
- Conditions
- Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism
- Trial name
- UCBT-002 (NCT00654433)
- Testing
- ALD-101
- Where
- 3 sites in United States
- Volunteers
- 40 people
- Sponsor
- Aldagen
Lysosomal Storage Disease, Peroxisomal Disorder
Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders
This study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) in patients with high-risk lysosomal and peroxisomal disorders using a novel…
- Trial name
- NCT01626092
- Testing
- Campath-1H, Clofarabine, Melphalan
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Masonic Cancer Center, University of Minnesota