Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)

NCT00410566 | Terminated Phase 1 DMC

• 1 other identifier: SPHINGO00605
• Study Type: interventional
• Target: 11
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to determine the safe range of single doses of rhASM administered to adults with ASM deficiency.

Conditions

Acid Sphingomyelinase Deficiency; Niemann-Pick Disease

Keywords

Acid sphingomyelinase deficiency; Niemann-Pick disease; Lysosomal storage disorder; Enzyme replacement therapy; Treatment

Outcome Measures

Primary Outcomes (2)

• Safety assessments via physical exam,AE reporting,telemetry heartrate monitoring,ECG,ECHO,clinical lab evaluations,liver and adrenal function tests,cytokine testing,adrenal hormone levels,lipid profile,chest Xrays,liver biopsies,MRI of internal

  Pre-, During-, and Post-infusion (up to 72 hrs); 14 day and 28 day follow-up visit

• Immune Response Measure

  Pre-infusion and final visit (Day 28)

Secondary Outcomes (1)

• PK measurements

  Pre- and Post-infusion up to 72 hrs.

Study Arms (5)

1

EXPERIMENTAL

Drug: rhASM

2

EXPERIMENTAL

Drug: rhASM

3

EXPERIMENTAL

Drug: rhASM

4

EXPERIMENTAL

Drug: rhASM

5

EXPERIMENTAL

Drug: rhASM

Interventions

rhASM DRUG

Single dose of 0.03mg/kg body weight IV

1

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Signed, informed consent by the patient or legal guardian prior to performing any study-related procedures;
• Have ≤ 0.2 nmol/hr/mg protein ASM activity in peripheral leukocytes, as measured by the reference laboratory;
• Have a diffusing capacity (DLco) \> 30% of the predicted normal value;
• Have a spleen volume ≥ 2x normal
• Female patients of childbearing potential must have a serum pregnancy test negative for β-hCG and agree to use a reliable birth control method for the duration of the study.

You may not qualify if:

• Is pregnant or lactating;
• Has received an investigational drug within 30 days prior to study enrollment;
• Has a medical condition, including serious intercurrent illness, active hepatitis B or C or human immunodeficiency virus (HIV) infection, cirrhosis, \> stage 3 liver fibrosis, INR \>1.5, platelet count \< 60.0x10\^3/µL, significant cardiac disease (e.g. pulmonary artery pressure \> 40 mm Hg, moderate or severe valvular dysfunction, or \< 40% left ventricular ejection fraction by echocardiography (ECHO)), or any other extenuating circumstances that may significantly interfere with study compliance including all prescribed evaluations and follow-up activities;
• Has had a major organ transplant (e.g. bone marrow or liver);
• Has had a total splenectomy;
• Has an alanine aminotransferase (ALT) or aspartate aminotransferase (AST) value \>250 IU/L or a total bilirubin \>3.6 mg/dL;
• Is unwilling or unable to avoid the use of alcohol, medications that may decrease rhASM activity, medications or herbal supplements that may cause or prolong bleeding, and the use of medications or herbal supplements with potential hepatoxicity within 14 days prior to and 28 days afte the rhASM infusion.

Sponsors & Collaborators

• Genzyme, a Sanofi Company: lead

Study Sites (1)

Unknown Facility

New York, New York, 10029, United States

Location

MeSH Terms

Conditions

Niemann-Pick Diseases; Lysosomal Storage Diseases

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; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Medical Monitor

  Genzyme, a Sanofi Company

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 11, 2006
• First Posted: December 13, 2006
• Study Start: December 1, 2006
• Primary Completion: March 1, 2009
• Study Completion: April 1, 2009
• Last Updated: March 19, 2015

Record last verified: 2015-03

Locations

US (1)