Registry of Patients Diagnosed With Lysosomal Storage Diseases

Study Overview
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Brief Summary
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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.

Detailed Description
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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: Identify patient outcomes of therapies. Improve clinical management of patients with LSDs. Improve medical decision making. Improve quality of care.

Official Title
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Registry of Patients Diagnosed With Lysosomal Storage Diseases

Conditions
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Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset, Neuronopathic Gaucher Disease, Wolman Disease

Intervention / Treatment
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* Other: There is no intervention


Participation Criteria
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Eligibility Criteria
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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 exclusion criteria

Ages Eligible for Study
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Maximum Age: 64 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Mucopolysaccharidosis I<br>Prenatally or postnatally diagnosed individuals | Other: There is no intervention<br>* 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.<br>|
| Mucopolysaccharidosis II<br>Prenatally or postnatally diagnosed individuals | Other: There is no intervention<br>* 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.<br>|
| Mucopolysaccharidosis IV A<br>Prenatally or postnatally diagnosed individuals | Other: There is no intervention<br>* 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.<br>|
| Mucopolysaccharidosis VI<br>Prenatally or postnatally diagnosed individuals | Other: There is no intervention<br>* 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.<br>|
| Mucopolysaccharidosis VII<br>Prenatally or postnatally diagnosed individuals | Other: There is no intervention<br>* 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.<br>|
| Infantile-Onset Pompe Disease<br>Prenatally or postnatally diagnosed individuals | Other: There is no intervention<br>* 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.<br>|
| Neuronopathic Gaucher<br>Prenatally or postnatally diagnosed individuals | Other: There is no intervention<br>* 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.<br>|
| Wolman Disease<br>Prenatally or postnatally diagnosed individuals | Other: There is no intervention<br>* 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.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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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