Efficacy and Safety of Human Lipoprotein Lipase (LPL)[S447X] Expressed by an Adeno-Associated Viral Vector in LPL-deficient Subjects

NCT ID: NCT00891306

Last Updated: 2011-09-29

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Clinical Phase

PHASE2/PHASE3

Total Enrollment

5 participants

Study Classification

INTERVENTIONAL

Study Start Date

2009-02-28

Study Completion Date

2011-04-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

This trial is designed to expand the currently available data on the safety and efficacy of alipogene tiparvovec treatment in lipoprotein lipase deficiency (LPLD) and to further the understanding of possible mechanisms of action of the therapy.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

LPLD is a rare autosomal recessive disorder, characterized by the presence of marked chylomicronemia and hence hypertriglyceridemia. Clinically the most severe manifestation of chylomicronemia, is acute pancreatitis, which can be lethal. There is no effective therapy available to modulate the course of the illness and prevent complications for these patients. The current clinical management consists of severe reduction of dietary fat that is hard if not almost impossible to comply with. LPLD subjects continue to experience pancreatitis attacks, and are admitted to intensive care units on several occasions.

Alipogene tiparvovec corrects or restores lipoprotein lipase (LPL) function long term, and hence reverses some symptoms, halts the disease progression and prevents further complications. Alipogene tiparvovec gene therapy ensures that a catabolically beneficial variant of the human LPL gene, LPL\[S447X\] is expressed and active in the relevant tissues in humans. Delivery of the gene is realized via intramuscular injection of an adeno-associated viral vector, pseudotyped with AAV1 capsids.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Familial Lipoprotein Lipase Deficiency

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Treatment arm

Gene Therapy

Group Type EXPERIMENTAL

Alipogene Tiparvovec (AMT-011), Human LPL [S447X]

Intervention Type GENETIC

intra muscular, 1 x E12 gc per kg body weight, injected in a single series of intramuscular injections

mycophenolate mofetil

Intervention Type DRUG

oral, 2 g/day, day -3 till week 12

cyclosporine

Intervention Type DRUG

oral, 3 mg/kg/day, day -3 till week 12

methylprednisolone

Intervention Type DRUG

single intravenous bolus of methylprednisolone (1 mg/kg bodyweight)

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Alipogene Tiparvovec (AMT-011), Human LPL [S447X]

intra muscular, 1 x E12 gc per kg body weight, injected in a single series of intramuscular injections

Intervention Type GENETIC

mycophenolate mofetil

oral, 2 g/day, day -3 till week 12

Intervention Type DRUG

cyclosporine

oral, 3 mg/kg/day, day -3 till week 12

Intervention Type DRUG

methylprednisolone

single intravenous bolus of methylprednisolone (1 mg/kg bodyweight)

Intervention Type DRUG

Other Intervention Names

Discover alternative or legacy names that may be used to describe the listed interventions across different sources.

Glybera AMT-011 CellCept Neoral Solumedrol®

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Being diagnosed with LPLD defined as:

* Confirmed homozygosity or compound heterozygosity for the mutations in the LPL gene, resulting in LPL deficiency
* Having a post heparin plasma LPL activity of ≤ 20% of normal or a well defined mutation for which it is documented that the LPL mass and activity are within the limits described above
* Having a history of pancreatitis
* Having fluctuating TG concentrations with median fasting plasma TG concentrations \> 10.00 mmol/L
* Being in good general physical health with, in the opinion of the investigator:

* No other clinically significant and relevant abnormalities in the medical history which could interfere with the participation to the study
* No clinically significant abnormalities at the physical examination which could interfere with the participation to the study
* No clinically significant abnormalities at the routine laboratory evaluation performed prior to the trial
* Women of non-child bearing potential or with a negative pregnancy test.
* Non breast feeding women
* Women using appropriate contraceptive (if relevant) and their partner using barrier contraception 2 weeks before starting immunosuppressive therapy
* Men practicing barrier birth control and their partner using appropriate contraception.
* Willing to fully comply with all study procedures and requirements of the trial such as restrictions to a low-fat diet.

Exclusion Criteria

* Having a chronic inflammatory muscle disease.
* Any current or relevant previous history of serious, severe or unstable physical or psychiatric illness, any medical disorder that may make the subject unlikely to fully complete the study, or any condition that presents undue risk from the study medication or procedures based on the investigator's opinion(eg. malignant neoplasia)
* Active infectious disease of any nature, including clinically active viral infections
* Having one of the following outcomes from the blood screening tests after appropriate correction due to the presence of chylomicronemia:

* Platelet count \< 100 x 109 /L
* Hemoglobin \< 6.2 mmol/L
* Liver function disturbances (bilirubin ≥1.5 x normal, ALT \> 2 x ULN (upper limit of normal)
* CPK \> 2 x ULN
* Cockcroft-Gault estimated creatinine clearance \< 50cc/min
* PT and PTT outside normal range or not determinable unless judged as acceptable for the subjects by the investigator
* Having a positive test for HIV, Hepatitis B, Hepatitis C or being positive for tuberculosis
* Obesity defined as body mass index (BMI) \> 30 kg/m2
* Having a recent history of alcohol or drug abuse e.g. barbiturates, cannabinoids and amphetamines, and the subject is positive in a urine screen for drugs of abuse
* Using anti-coagulants
* Participation in another clinical trial or receipt of any other investigational drug within 30 days of screening or planning to participate in another clinical trial during the course of the study, except observational studies
* Subjects which cannot be treated with immunosuppressive medication or steroids
* Known to be allergic to any constituent of the therapy (including the immune suppressors) or a having a condition that prohibits the use of therapy
* Received previous treatment with AMT-010, Alipogene tiparvovec or other gene therapy investigational product
* Requiring a post heparin plasma LPL activity test for diagnostic confirmation and having a history of heparin induced thrombocytopenia or other heparin related complications
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

The Clinical Trial Company

INDUSTRY

Sponsor Role collaborator

Amsterdam Molecular Therapeutics

INDUSTRY

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Daniel Gaudet, MD, Ph.D.

Role: PRINCIPAL_INVESTIGATOR

ECOGENE-21 Clinical Trial Center / Centre de santé et de services sociaux de Chicoutimi, Chicoutimi Hospital, Quebec, Canada

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

ECOGENE-21 Clinical Trial Center / Centre de santé et de services sociaux de Chicoutimi

Chicoutimi, Quebec, Canada

Site Status

Centre des Maladies Lipidiques de Québec

Québec, Quebec, Canada

Site Status

Countries

Review the countries where the study has at least one active or historical site.

Canada

References

Explore related publications, articles, or registry entries linked to this study.

Ross CJ, Twisk J, Meulenberg JM, Liu G, van den Oever K, Moraal E, Hermens WT, Rip J, Kastelein JJ, Kuivenhoven JA, Hayden MR. Long-term correction of murine lipoprotein lipase deficiency with AAV1-mediated gene transfer of the naturally occurring LPL(S447X) beneficial mutation. Hum Gene Ther. 2004 Sep;15(9):906-19. doi: 10.1089/hum.2004.15.906.

Reference Type BACKGROUND
PMID: 15353045 (View on PubMed)

Rip J, Nierman MC, Sierts JA, Petersen W, Van den Oever K, Van Raalte D, Ross CJ, Hayden MR, Bakker AC, Dijkhuizen P, Hermens WT, Twisk J, Stroes E, Kastelein JJ, Kuivenhoven JA, Meulenberg JM. Gene therapy for lipoprotein lipase deficiency: working toward clinical application. Hum Gene Ther. 2005 Nov;16(11):1276-86. doi: 10.1089/hum.2005.16.1276.

Reference Type BACKGROUND
PMID: 16259561 (View on PubMed)

Ross CJ, Liu G, Kuivenhoven JA, Twisk J, Rip J, van Dop W, Excoffon KJ, Lewis SM, Kastelein JJ, Hayden MR. Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation. Arterioscler Thromb Vasc Biol. 2005 Oct;25(10):2143-50. doi: 10.1161/01.ATV.0000176971.27302.b0. Epub 2005 Jul 7.

Reference Type BACKGROUND
PMID: 16002740 (View on PubMed)

Ross CJ, Twisk J, Bakker AC, Miao F, Verbart D, Rip J, Godbey T, Dijkhuizen P, Hermens WT, Kastelein JJ, Kuivenhoven JA, Meulenberg JM, Hayden MR. Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation. Hum Gene Ther. 2006 May;17(5):487-99. doi: 10.1089/hum.2006.17.487.

Reference Type BACKGROUND
PMID: 16716106 (View on PubMed)

Stroes ES, Nierman MC, Meulenberg JJ, Franssen R, Twisk J, Henny CP, Maas MM, Zwinderman AH, Ross C, Aronica E, High KA, Levi MM, Hayden MR, Kastelein JJ, Kuivenhoven JA. Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients. Arterioscler Thromb Vasc Biol. 2008 Dec;28(12):2303-4. doi: 10.1161/ATVBAHA.108.175620. Epub 2008 Sep 18. No abstract available.

Reference Type BACKGROUND
PMID: 18802015 (View on PubMed)

Carpentier AC, Frisch F, Labbe SM, Gagnon R, de Wal J, Greentree S, Petry H, Twisk J, Brisson D, Gaudet D. Effect of alipogene tiparvovec (AAV1-LPL(S447X)) on postprandial chylomicron metabolism in lipoprotein lipase-deficient patients. J Clin Endocrinol Metab. 2012 May;97(5):1635-44. doi: 10.1210/jc.2011-3002. Epub 2012 Mar 21.

Reference Type DERIVED
PMID: 22438229 (View on PubMed)

Related Links

Access external resources that provide additional context or updates about the study.

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

CT-AMT-011-02

Identifier Type: -

Identifier Source: org_study_id