Clinical trials: Galactosialidosis
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
Marfan Syndrome, Turner Syndrome
National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) was initiated in 2006 by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of…
- Conditions
- Marfan Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome
- Trial name
- GenTAC (NCT01322165)
- Where
- 7 sites in United States
- Volunteers
- 3,706 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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)
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
Aortopathies, Thoracic Aortic Aneurysm
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by…
- Conditions
- Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease
- Trial name
- TAA (NCT03440697)
- Where
- 2 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Yale University