후기 발병 폼페병 환자의 혈액 내 항체 수치와 바이오마커에 관한 연구
후기 발병 폼페병 환자의 AAV8 항체 혈청 유병률 및 바이오마커 평가를 위한 연구
Pompe disease is a genetic condition which causes muscle weakness over time. People with Pompe disease have a faulty gene that makes an enzyme called acid alpha-glucosidase (or GAA). This enzyme breaks down a type of sugar called glycogen. Without this enzyme, there is a build-up of glycogen in the cells of the body. This causes muscle weakness and other symptoms. Pompe disease can happen at any age, but in late-onset Pompe disease, symptoms generally start from 12 months old onwards.
The standard treatment for people with Pompe disease is to receive regular infusions of the GAA enzyme. This is known as enzyme replacement therapy. However, people can build up antibodies against the GAA enzyme over time.
Gene therapy is used to treat conditions caused by a faulty gene. It works by replacing the faulty gene with a working gene inside the cells of the body. The working gene is delivered into the cells using certain viruses as carriers (vectors). Viruses are often used as carriers as they can easily get inside cells. The genetic material of the original virus is replaced with the working gene, so only the working gene gets inside the cells. A common virus used as a carrier in gene therapy is the adeno-associated virus (or AAV). This is like an adenovirus, which causes the common cold.
The original type of AAV does not cause any harm to humans. However, people that have previously been infected with the original type of AAV may have built up antibodies against AAV. These antibodies may stop the AAV carrier with the working gene getting inside the cells.
Researchers want to learn more about antibody levels against AAV and the GAA enzyme in people with late-onset Pompe disease. They also want to learn about other substances in the blood that provide more information about late-onset Pompe disease. These are known as biomarkers.
In this study, older teenagers and adults with late-onset Pompe disease will take part. They will not have had gene therapy using AAV. There will be 2 groups - those who have never had enzyme replacement therapy, and those who have had enzyme replacement therapy for 6 months or more. No study treatment will be given during the study, but blood and urine samples will be taken for testing.
The main aims of the study are to check antibody levels against AAV8 (a type of AAV) in people with late-onset Pompe disease who had not received any treatment using AAV, to check antibody levels against the GAA enzyme in people previously treated with GAA as part of enzyme replacement therapy, to check levels of biomarkers for Pompe disease, and to check for medical problems.
In the study, people will visit the study clinic several times. Some visits may be in the person's home. The first visit is to check if they can take part. Those who can take part will have a medical examination, and have their vital signs checked. Vital signs include blood pressure, heart rate, breathing rate and temperature. Blood samples will be taken to check antibody levels against the GAA enzyme and against AAV8. Blood and urine samples will also be taken to check for biomarkers for Pompe disease. Blood and urine samples will be taken about every 4 months for up to 2 years.
연구 개요
상세 설명
No investigational drug will be administered to participants in this study. Blood and urine will be collected as part of the study. The duration of the study is approximately 2 years, participants may withdraw at any time.
연구 유형
등록 (실제)
단계
- 해당 없음
연락처 및 위치
연구 장소
-
-
-
Taipei, 대만
- TW88601
-
Taipei, 대만
- TW88602
-
Taoyuan City, 대만
- TW88603
-
-
-
-
-
Bonn, 독일
- DT49005
-
Essen, 독일
- DT49004
-
Höchheim, 독일
- DT49003
-
Münster, 독일
- DT49006
-
-
-
-
Georgia
-
Atlanta, Georgia, 미국, 30322
- Emory Clinic
-
-
Kansas
-
Kansas City, Kansas, 미국, 66160
- University of Kansas Medical Center
-
-
Michigan
-
Ann Arbor, Michigan, 미국, 48109
- University of Michigan
-
-
Minnesota
-
Minneapolis, Minnesota, 미국, 55404
- Children's Hospitals and Clinics of Minnesota
-
-
New Jersey
-
Hackensack, New Jersey, 미국, 07601
- Hackensack University Medical Center
-
-
Ohio
-
Cincinnati, Ohio, 미국, 45221
- University of Cincinnati
-
-
Pennsylvania
-
Philadelphia, Pennsylvania, 미국, 19104
- University of Pennsylvania
-
Pittsburgh, Pennsylvania, 미국, 15213
- University of Pittsburgh Medical Center
-
-
Utah
-
Salt Lake City, Utah, 미국, 84132
- University of UTAH - PPDS
-
-
Virginia
-
Fairfax, Virginia, 미국, 22030
- Lysosomal and Rare Diseases Research and Treatment Center, Inc.
-
-
-
-
-
Flamengo, 브라질
- BR55003
-
Porto Alegre, 브라질
- BR55002
-
São Paulo, 브라질
- BR55001
-
-
-
-
-
Albacete, 스페인
- ES34003
-
Barcelona, 스페인
- ES34004
-
Donostia / San Sebastian, 스페인
- ES34009
-
L'Hospitalet de Llobregat, 스페인
- ES34007
-
Madrid, 스페인
- ES34001
-
Madrid, 스페인
- ES34005
-
Valencia, 스페인
- ES34002
-
-
-
-
-
Cambridge, 영국
- UK44003
-
Newcastle upon Tyne, 영국
- UK44001
-
Salford, 영국
- UK44004
-
-
-
-
-
Florence, 이탈리아
- IT39002
-
Gussago, 이탈리아
- IT39005
-
Messina, 이탈리아
- IT39012
-
Milan, 이탈리아
- IT39009
-
Milan, 이탈리아
- IT39011
-
Pavia, 이탈리아
- IT39008
-
Pisa, 이탈리아
- IT39006
-
Roma, 이탈리아
- IT39004
-
Udine, 이탈리아
- IT39003
-
-
-
-
-
Kodaira-Shi, 일본
- National Center of Neurology and Psychiatry
-
Shinjuku-Ku, 일본
- Tokyo Women's Medical University Hospital
-
-
-
-
-
Edmonton, 캐나다
- CN15003
-
Montreal, 캐나다
- CA15001
-
-
-
-
-
Angers, 프랑스
- FR33006
-
Garches, 프랑스
- FR33009
-
Lille, 프랑스
- FR33005
-
Limoges, 프랑스
- FR33007
-
Marseille, 프랑스
- FR33002
-
Nantes, 프랑스
- FR33003
-
Nice, 프랑스
- FR33004
-
Strasbourg, 프랑스
- FR33001
-
-
-
-
-
Adelaide, 호주
- AU61003
-
Herston, 호주
- AU61001
-
-
참여기준
자격 기준
공부할 수 있는 나이
건강한 자원 봉사자를 받아들입니다
연구 대상 성별
설명
Inclusion Criteria:
- Participant has a documented clinical diagnosis of LOPD.
- Participant is enzyme replacement therapy ERT-naïve (ERT-N) or if the participant is currently taking an approved ERT treatment or is participating in an ERT-interventional study, the ERT must have been received for at least 6 months or more (ERT-experienced [ERT-E]).
- Participant is willing and able to comply with study visits and procedures.
- Participant agrees to not start participating in any other clinical study involving an investigational study treatment, including ERT, while participating in this study.
Exclusion Criteria:
- Participant previously received an AAV-related product (any serotype).
- Participant is currently participating in a Pompe-related interventional study (other than ERT-interventional studies) or has received gene or cell therapy.
- Participant requires any invasive or noninvasive ventilation support while awake and upright (non-invasive support while sleeping with either continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) is acceptable for eligibility).
- Participant is unable to ambulate (assistive devices [e.g., cane or walker] are acceptable for eligibility).
- Participants who have received any ERT for less than 6 months as of the Baseline visit are not eligible.
공부 계획
연구는 어떻게 설계됩니까?
디자인 세부사항
- 주 목적: 다른
- 할당: 해당 없음
- 중재 모델: 단일 그룹 할당
- 마스킹: 없음(오픈 라벨)
무기와 개입
참가자 그룹 / 팔 |
개입 / 치료 |
|---|---|
|
다른: Participants with Late-Onset Pompe Disease
Adolescent or adult participants with LOPD. |
No investigational drug will be administered to participants in this study. |
연구는 무엇을 측정합니까?
주요 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
|
Occurrence of total antibodies to AAV8
기간: Up to 2 years
|
Antibodies to AAV8 will be recorded from serum blood samples collected. |
Up to 2 years
|
|
Occurrence of neutralizing antibodies to AAV8
기간: Up to 2 years
|
Antibodies to AAV8 will be recorded from serum blood samples collected. |
Up to 2 years
|
2차 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
|
Seroconversion of antibodies to AAV8 over time
기간: Up to 2 years
|
Seroconversion of antibodies to AAV8 will be recorded from serum blood samples collected. |
Up to 2 years
|
|
Creatine kinase [CK] levels
기간: Up to 2 years
|
CK levels will be recorded from blood plasma samples collected. |
Up to 2 years
|
|
Urine glucose tetrasaccharide [Glc4]/hexose tetrasaccharide [Hex4] over time
기간: Up to 2 years
|
Glc4/Hex4 will be recorded from urine samples collected. |
Up to 2 years
|
|
Occurrence of anti-GAA antibodies in participants on ERT
기간: Up to 2 years
|
Anti-GAA antibodies will be recorded from serum blood samples collected. |
Up to 2 years
|
공동 작업자 및 조사자
수사관
- 연구 책임자: Medical Director, Astellas Gene Therapies
연구 기록 날짜
연구 주요 날짜
연구 시작 (실제)
기본 완료 (추정된)
연구 완료 (추정된)
연구 등록 날짜
최초 제출
QC 기준을 충족하는 최초 제출
처음 게시됨 (실제)
연구 기록 업데이트
마지막 업데이트 게시됨 (실제)
QC 기준을 충족하는 마지막 업데이트 제출
마지막으로 확인됨
추가 정보
이 연구와 관련된 용어
추가 관련 MeSH 약관
기타 연구 ID 번호
- AT845-02
개별 참가자 데이터(IPD) 계획
개별 참가자 데이터(IPD)를 공유할 계획입니까?
IPD 계획 설명
Access to anonymized individual participant level data will not be provided for this trial. Further details on Astellas' data sharing policy can be found at https://www.clinicaltrials.astellas.com/transparency/.
약물 및 장치 정보, 연구 문서
미국 FDA 규제 의약품 연구
미국 FDA 규제 기기 제품 연구
이 정보는 변경 없이 clinicaltrials.gov 웹사이트에서 직접 가져온 것입니다. 귀하의 연구 세부 정보를 변경, 제거 또는 업데이트하도록 요청하는 경우 register@clinicaltrials.gov. 문의하십시오. 변경 사항이 clinicaltrials.gov에 구현되는 즉시 저희 웹사이트에도 자동으로 업데이트됩니다. .