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This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.
The need for methods to track patient outcomes, clinical management, medical decision making, and quality of care are all part of current national mandates in patient safety and quality of care delivery.
The aim of this registry is to prospectively and retrospectively collect data on patients who are diagnosed with Lysosomal Storage Disease and other LSD mutations. Data collected will be used to:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Mucopolysaccharidosis I | Prenatally or postnatally diagnosed individuals |
| |
| Mucopolysaccharidosis II | Prenatally or postnatally diagnosed individuals |
| |
| Mucopolysaccharidosis IV A | Prenatally or postnatally diagnosed individuals |
| |
| Mucopolysaccharidosis VI | Prenatally or postnatally diagnosed individuals |
| |
| Mucopolysaccharidosis VII | Prenatally or postnatally diagnosed individuals |
| |
| Infantile-Onset Pompe Disease | Prenatally or postnatally diagnosed individuals |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| There is no intervention | Other | This is an observational study. There is no intervention. The purpose of the project is to create a database of patients diagnosed either prenatally or after birth with a lysosomal storage disease. The database will be utilized to assess patient outcomes, build on existing clinical management, improve medical decision making, and improve quality of care. |
| Measure | Description | Time Frame |
|---|---|---|
| Number of patients with and types of prenatal features of Lysosomal Storage Diseases | Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO. | 15 years |
| Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine. | Laboratory analysis of urine for GAG levels. | 15 years |
| Number of participants that show measured levels of antibodies against the enzyme. | Laboratory analysis of blood to measure antibody levels. | 15 years |
| Number of participants that show functional cardiac, growth, mobility, and neurocognitive function. | echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function. | 15 years |
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Inclusion Criteria:
Exclusion Criteria:
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Prenatal or postnatal patients diagnosed with a Lysosomal Storage Disease.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Billie Lianoglou, MS | Contact | 415-476-2461 | billie.lianoglou@ucsf.edu | |
| Emma Canepa, MS, CCRP | Contact | 415-476-7255 | Emma.Canepa@ucsf.edu |
| Name | Affiliation | Role |
|---|---|---|
| Tippi C MacKenzie, MD | University of California, San Francisco | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California San Francisco | Recruiting | San Francisco | California | 94143 | United States |
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| Neuronopathic Gaucher | Prenatally or postnatally diagnosed individuals |
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| Wolman Disease | Prenatally or postnatally diagnosed individuals |
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| ID | Term |
|---|---|
| D008059 | Mucopolysaccharidosis I |
| D016532 | Mucopolysaccharidosis II |
| D009085 | Mucopolysaccharidosis IV |
| D009087 | Mucopolysaccharidosis VI |
| D016538 | Mucopolysaccharidosis VII |
| D005776 | Gaucher Disease |
| D015223 | Wolman Disease |
| D016464 | Lysosomal Storage Diseases |
| D008661 | Metabolism, Inborn Errors |
| D009083 | Mucopolysaccharidoses |
| ID | Term |
|---|---|
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D017520 | Mucinoses |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D038901 | X-Linked Intellectual Disability |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D052439 | Lipid Metabolism Disorders |
| D015217 | Cholesterol Ester Storage Disease |
| D007232 | Infant, Newborn, Diseases |
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