Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Neuronopathic Gaucher Disease, Pompe Disease Infantile-Onset, Wolman Disease
Conditions
Keywords
Lysosomal Storage Disease, LSDs, Inborn Error of Metabolism, Hurler Syndrome, Sly Syndrome, Hunter Syndrome, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IVa, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset, Neuronopathic Gaucher Disease, Wolman Disease, MPS, Mucopolysaccharidosis
Brief summary
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.
Detailed description
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: 1. Identify patient outcomes of therapies. 2. Improve clinical management of patients with LSDs. 3. Improve medical decision making. 4. Improve quality of care.
Interventions
OTHERThere is no intervention
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.
Sponsors
University of California, San Francisco
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
No minimum to 64 Years
Healthy volunteers
No
Inclusion criteria
* Patients aged 0-64 with a diagnosis of a lysosomal storage disease * Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease
Exclusion criteria
* There are no current
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of patients with and types of prenatal features of Lysosomal Storage Diseases | 15 years | Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO. |
| Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine. | 15 years | Laboratory analysis of urine for GAG levels. |
| Number of participants that show measured levels of antibodies against the enzyme. | 15 years | Laboratory analysis of blood to measure antibody levels. |
| Number of participants that show functional cardiac, growth, mobility, and neurocognitive function. | 15 years | echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function. |
Countries
United States
Contacts
CONTACTBillie Lianoglou, MS
CONTACTEmma Canepa, MS, CCRP
PRINCIPAL_INVESTIGATORTippi C MacKenzie, MD
University of California, San Francisco
Outcome results
None listed