A Clinical Study for the Treatment of Pediatric and Adolescent Patients With Type 1 Gaucher Disease

NCT06528080 | Active Not Recruiting Early Phase 1

• 1 other identifier: LY-M001-GD-002
• Study Type: interventional
• Target: 9
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study was to evaluate the safety, tolerability, efficacy, immunogenicity, PD and PK characteristics of LY-M001 injection in children with GD1 aged 6 years ≤ age \< 18 years. This study mainly includes the main study stage and the long-term follow-up study stage.

Conditions

Gaucher Disease

Outcome Measures

Primary Outcomes (3)

• Incidence of adverse events (AE) and serious adverse events (SAE) within 52 weeks after LY-M001 infusion

  Number of participants with treatment-related adverse events as assessed by CTCAE v5.0.

  Within 52 weeks of infusion

• Incidence rate of dose-limiting toxicity (DLT) events determined by the data safety review committee (SRC) within at least 28 days after LY-M001 infusion

  Number of participants with treatment-related adverse events as assessed by CTCAE v5.0.The adverse events defined as dose-limiting toxicity (DLT) have been clearly specified in the protocol.

  Within 52 weeks of infusion

• Liver function levels (including alanine aminotransferase [ALT], aspartate aminotransferase [AST], total bilirubin [TBIL], alkaline phosphatase [ALP], gamma-glutamyl transferase [GGT]) within 52 weeks after LY-M001 infusion.

  Incidence rate of liver function-related adverse events evaluated by CTCAE V5.0.

  Within 52 weeks of infusion

Secondary Outcomes (9)

• Pharmacodynamics on blood glucocerebrosidase

  Within 52 weeks of infusion

• Pharmacodynamics on Blood glucosesphingosine

  Within 52 weeks of infusion

• Effectiveness of symptom improvement on Liver volume

  Within 52 weeks of infusion

• Effectiveness of symptom improvement on spleen volume

  Within 52 weeks of infusion

• Effectiveness of symptom improvement on Hemoglobin levels

  Within 52 weeks of infusion

Study Arms (3)

LY-M001 Backdose

EXPERIMENTAL

Participants receive a single, peripheral intravenous (IV) infusion of LY-M001 at backdose.

Genetic: LY-M001

LY-M001 Dose group 1

EXPERIMENTAL

Participants receive a single, peripheral intravenous (IV) infusion of LY-M001 at dose group 1.

Genetic: LY-M001

LY-M001 Dose group 2

EXPERIMENTAL

Participants receive a single, peripheral intravenous (IV) infusion of LY-M001 at dose group 2.

Genetic: LY-M001

Interventions

LY-M001 GENETIC

LY-M001 Injection by Single Intravenous Infusion

LY-M001 Backdose; LY-M001 Dose group 1; LY-M001 Dose group 2

Eligibility Criteria

• Age: 6 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• The subject and/or parent, caregiver, or legal representative must be willing and able to provide written informed consent/consent for the study in accordance with applicable regulations and guidelines and comply with all study access and procedures, including the use of any data collection devices that can be used to directly record participant data.
• Gender is not limited, 6 years old ≤ 18 years old.
• Patients with double allele mutation of glucocerebrosidase gene (GBA1) and decreased glucocerebrosidase activity were confirmed by laboratory tests and met the clinical manifestations of type I Gaucher disease.
• Subjects were newly treated or treated patients with type I Gaucher disease; For patients treated with enzyme replacement therapy (ERT) or substrate clearance therapy (SRT) before screening, 5 drug half-lives are required before administration.
• The subject is willing to participate in all study follow-up and comply with all study procedures and evaluations.
• The subject must be willing to refrain from donating blood, organs, tissues, or cells at any time after receiving treatment.
• Pregnant Women (WOCBP) subjects tested negative for pregnancy.

You may not qualify if:

• Positive AAV8 neutralizing antibody (antibody titer \> 1:10).
• Patients with type II or III Gaucher disease (GD2 or GD3), or with suspected Gaucher disease as assessed by the investigator (e.g., subjects with Gaucher disease-related central nervous system manifestations or abnormal electroencephalogram \[EEG\] examination).
• Active and progressive bone diseases that are expected to require surgical treatment within the next 6 months.
• The subjects were judged by the investigator to have idiopathic thrombocytopenic purpura (ITP), thrombotic thrombocytopenic purpura (TTP), thrombocytopenia, anemia, hepatomeglia, splenomeglia, and/or osteoporosis unrelated to GD (bone mineral density z-score ±2).
• Treatment with an investigational drug in another clinical study within 28 days prior to screening or 5 half-lives, whichever is older.
• Evidence of a history of clinically significant liver disease or hepatotoxin exposure that meets, but is not limited to, any of the following at the time of screening:
• ① Progressive hepatomegaly larger than 3 times the normal volume;
• ② History of stage 2 or above hepatic fibrosis;
• ③ AST, ALT, or TBIL were 1.5 times higher than the upper limit of normal (ULN);
• ④ Immune hepatitis;
• ⑤ Hepatitis B surface antigen (HBsAg) positive, and hepatitis B virus deoxyribonucleic acid (HBV-DNA) positive (HBV-DNA\>10\^3 copy number /mL); Or take hepatitis B drugs (such as interferon, lamivudine, adefovir and entecavir); Or hepatitis C virus (HCV) antibody positive.
• The subject's blood indicators have any of the following:
• ① The hemoglobin value was \< 8.0 g/dL;
• ② Platelet count \< 40 × 10\^9/L.
• Refractory epilepsy.

Sponsors & Collaborators

• Shanghai Jiao Tong University School of Medicine: lead

Study Sites (1)

Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University

Shanghai, Shanghai Municipality, China

Location

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• xiumin wang, PhD

  Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director

Study Record Dates

• First Submitted: June 22, 2024
• First Posted: July 30, 2024
• Study Start: August 1, 2024
• Primary Completion (Estimated): May 30, 2027
• Study Completion (Estimated): May 30, 2030
• Last Updated: February 4, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)