Registry of Patients Diagnosed With Lysosomal Storage Diseases (LSD Registry)

University of California San Francisco (UCSF)

Status: Enrolling

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

Treatments: Other: There is no intervention

Study type: Observational

Funder types: Other

Identifiers

NCT05619900

21-34933

Details and patient eligibility

About

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.

Full 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.

Enrollment: 250 estimated patients

Sex: All

Ages: Under 64 years old

Volunteers: No Healthy Volunteers

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

Trial design

250 participants in 8 patient groups

Mucopolysaccharidosis I

Description:

Prenatally or postnatally diagnosed individuals

Treatment:

Other: There is no intervention

Mucopolysaccharidosis II

Description:

Prenatally or postnatally diagnosed individuals

Treatment:

Other: There is no intervention

Mucopolysaccharidosis IV A

Description:

Prenatally or postnatally diagnosed individuals

Treatment:

Other: There is no intervention

Mucopolysaccharidosis VI

Description:

Prenatally or postnatally diagnosed individuals

Treatment:

Other: There is no intervention

Mucopolysaccharidosis VII

Description:

Prenatally or postnatally diagnosed individuals

Treatment:

Other: There is no intervention

Infantile-Onset Pompe Disease

Description:

Prenatally or postnatally diagnosed individuals

Treatment:

Other: There is no intervention

Neuronopathic Gaucher

Description:

Prenatally or postnatally diagnosed individuals

Treatment:

Other: There is no intervention

Wolman Disease

Description:

Prenatally or postnatally diagnosed individuals

Treatment:

Other: There is no intervention