Geç İnfantil Nöronal Seroid Lipofusinoz Olan Çocuklarda Gen Aktarım Vektörünün Güvenlilik Çalışması

Sade dilde özet

Bu çalışma, geç infantil nöronal seroid lipofusinoz (late infantile neuronal ceroid lipofuscinosis, LINCL) olan çocuklarda, CLN2 genini hücrelere ulaştırmayı amaçlayan AAV2CUhCLN2 adlı gen terapisinin güvenliliğini incelemektedir. Çalışmaya, CLN2 gen mutasyonuyla kesin tanı almış ve daha önce bu hastalık için gen terapisi almamış çocuklar alınmıştır. Araştırma Faz 1 aşamasında yürütülmüş ve tamamlanmıştır.

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

Faz 1 (Phase 1)

Durum

Tamamlandı

Sponsor

Weill Medical College of Cornell University

Müdahale

AAV2CUhCLN2 (3x10^12 particle units)

Başlangıç

01.06.2004

Tahmini bitiş

01.06.2019

Ülkeler

United States

İlgili genler

Merkezler

• New York, United States

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

Inclusion Criteria:

* A definitive diagnosis of late infantile neuronal ceroid lipofuscinosis, based on clinical phenotype and genotype, with CLN2 gene mutations known to be associated with the disease.
* All subjects will be naive, i.e., they have not previously participated in a gene therapy study for LINCL.
* Parents of study participants must agree to comply in good faith with the conditions of the study, including attending all of the required baseline and follow-up assessments.
* Both parents or legal guardians must give consent for their child's participation in the research study.
* For group A, subjects will have a LINCL average total disability score 0 to 4, the severe form of the disease.
* For group B, subjects will have a LINCL average total disability score 5 to 6, a moderate form of the disease.

Exclusion criteria

* Other significant medical or neurological conditions may disqualify the patient from participation in this study, particularly those which would create an unacceptable operative risk or risk to receiving the AAV2CUhCLN2 vector. Examples include malignancy (other than skin cancer), congenital heart disease, liver or renal failure, or seropositive for HIV. Each case will be individually reviewed and the final decision shall rest with the Eligibility Committee comprised on three physicians other than the Principal Investigator, including a pediatric neurosurgeon, pediatric neurologist and general pediatrician.
* Individuals without adequate control of seizures (i.e., a seizure score \<3 on the CNS Disability Scoring System for Late Infantile Neuronal Ceroid Lipofuscinosis).
* Individuals with heart disease that would be a risk for anesthesia.
* History of hemorrhage or major risk factors for hemorrhage (e.g., abnormally low platelet counts).
* Concurrent participation in any other FDA approved Investigational New Drug clinical protocol is not allowed, although the Principal Investigator will work with other doctors to accommodate specific requests (e.g., a study of nutritional supplements probably would not be a disqualification).
* Individuals who have a (1) heart pacemaker and/or related implants, (2) metal fragment/chip in the eye or other sites, (3) an aneurysm clip in their brain, and (4) metallic inner ear implants.