Recruiting

Observational Study

Sponsor:

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Code:

NCT03812055

Conditions

Lysosomal Storage Diseases

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

Brief summary:

The purpose of this study is to evaluate the effect of small molecule therapy in primary cells derived from patients with lysosomal storage disease. The study will focus on activity of small molecules, in terms of measurements enzymes activity and level of substrates accumulations. Also, the effects of small molecules on cell function, including autophagy-lysosomal pathways, metabolism, mitochondrial function and immune reaction will be investigated.

Conditions

Lysosomal Storage Diseases

Study ID

NCT03812055

Start date

Jul 6, 2018

Status verified date

Jan, 2019

Completion date

Jul, 2020

Anticipated

Primary completion date

Jul, 2020

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Inclusion Criteria:

Subjects with

1. confirmed diagnosis of any lysosomal storage disorder
2. family members with history of lysosomal storage disorders

Exclusion Criteria:

Subjects excluded from the study include those who:

1. present with severe cognitive deficits impairing decision making
2. are unable to or for whom it is medically unsafe to withdraw from their current medications, such as subjects on SSRI s and other psychoactive drugs. The subjects on SSRIs may be included in the study only with an approval from the prescribing physician to discontinue their medications temporarily for the study.
3. are pregnant or nursing. All women of child bearing potential will undergo a pregnancy test.
4. have a history of neurologic conditions such as stroke or any focal brain lesion that may result in parkinonian manifestations. Individuals with such MRI findings will be excluded from the study.

Study Design

Enrollment

50 participants

Anticipated

Interventions and Outcome Measures

Arms

LSD

Subjects diagnosed or suspected to have any of the following lysosomal storage diseases: Gaucher disease, Fabry disease, Pompe disease, Mucopolysaccharidoses.

Control

Subjects with no known lysosomal storage disorder

Primary outcome measure

  • Effect on enzyme activity [ Time Frame: 24 months ]
  • Effect on substrate accumulation [ Time Frame: 24 months ]
  • Effect on autophagy-lysosomal pathway [ Time Frame: 24 months ]
  • Effect on mitochondrial functions [ Time Frame: 24 months ]
  • Effect on immune and inflammatory response [ Time Frame: 24 months ]

Central Contacts and Locations

Central contacts

Margarita M Ivanova, PhD

7032616220mivanova@ldrtc.org

Uyensa Beese

7032616220ubeese@ldrtc.org

Locations

LDRTC

Recruiting

Fairfax, Virginia, United States, 22030

Contacts

Margarita Ivanova, PhD

703-261-6220mivanova@ldrtc.org

Ozlem M Goker-Alpan, MD

7032616220ogokar-alpan@ldrtc.org

Principal Investigator:

Ozlem Goker-Alpan, MD

More Information

Sponsor

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Last update posted

Jan 22, 2019

Last verified

Jan, 2019

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-29. This information was provided to ClinicalTrials.gov by Lysosomal and Rare Disorders Research and Treatment Center, Inc. on 2019-01-22. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.