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NCT Number: NCT05619900

Registry of Patients Diagnosed With Lysosomal Storage Diseases

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.

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Key information

Conditions

Mucopolysaccharidosis I Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Cholesterol Ester Storage Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Gaucher Disease Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Infant, Newborn, Diseases Intellectual Disability Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Mucinoses Mucopolysaccharidoses Mucopolysaccharidosis II Mucopolysaccharidosis IV Mucopolysaccharidosis IV A Mucopolysaccharidosis VI Mucopolysaccharidosis VII Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Neuronopathic Gaucher Disease Nutritional and Metabolic Diseases Pompe Disease Infantile-Onset Skin and Connective Tissue Diseases Sphingolipidoses Wolman Disease X-Linked Intellectual Disability

Age range

Up to 64 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University of California San Francisco

San Francisco, California, 94143, United States

Location status: Recruiting

Location contact

Billie Lianoglou, MS

CONTACT

[email protected]

415-476-2461

Emma Canepa, MS, CCRP

CONTACT

[email protected]

415-476-7255

Tippi C MacKenzie, MD

PRINCIPAL_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

Primary outcomes

  1. Number of patients with and types of prenatal features of Lysosomal Storage Diseases

    Time frame: 15 years

    Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO.

  2. Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.

    Time frame: 15 years

    Laboratory analysis of urine for GAG levels.

  3. Number of participants that show measured levels of antibodies against the enzyme.

    Time frame: 15 years

    Laboratory analysis of blood to measure antibody levels.

  4. Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.

    Time frame: 15 years

    echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function.

Study contacts

Contact information is provided by the study sponsor or research team.

Billie Lianoglou, MS

CONTACT

[email protected]

415-476-2461

Emma Canepa, MS, CCRP

CONTACT

[email protected]

415-476-7255

Sponsors and collaborators

Lead sponsor

University of California, San Francisco

Other

Registry information

Acronym: LSD Registry

Important dates

Study start
2022
Primary completion
2050
Study completion
2050
First posted
Nov 17, 2022
Registry last updated
Apr 8, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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