Li-Fraumeni Sendromu/TP53 Biyobankası

Sade dilde özet

Bu çalışma, Li-Fraumeni sendromu (Li-Fraumeni syndrome) olan ya da TP53 gen mutasyonu taşıyan bireylerden ve etkilenmemiş aile üyelerinden örnek toplayarak bir biyobanka oluşturmayı amaçlıyor. Her yaştan, doğrulanmış germline TP53 mutasyonu olan veya tanı kriterlerini karşılayan kişiler ve biyolojik aile üyeleri katılabilmektedir. Çalışma faz uygulanmayan bir biyobanka çalışması olarak yürütülmekte ve halen katılımcı almaktadır.

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

Deney bilgileri

Faz

N/A

Durum

Katılımcı alıyor

Sponsor

Abramson Cancer Center at Penn Medicine

Müdahale

No Intervention

Başlangıç

24.09.2019

Tahmini bitiş

24.09.2029

Ülkeler

United States

İlgili genler

Merkezler

• Philadelphia, United States
• Phildelphia, United States

Uygunluk kriterleri

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

Inclusion Criteria:

Affected Patient (Group 1)

1. Males or females aged 0 and above.
2. Confirmed germline TP53 mutation or variant. OR Family history of LFS and clinically managed as a LFS patient. OR Meet LFS diagnostic criteria including Classic, Chompret, and LFL (Birch and Eeles) criteria.
3. Informed consent for capable participants. OR Parental/legally authorized representative permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.

Unaffected Family Member (Group 2)

1. Males or females aged 0 and above.
2. Biological relative of subjects with germline TP53 mutation or variant (LFS), including first degree (siblings, parents) and second degree (grandparents, aunts, uncles) relatives.
3. Negative for germline TP53 mutation or variant.
4. Informed consent for capable participants. OR Parental/legally authorized representative permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.

Household Member (Group 3)

1. Males or females aged 0 and above.
2. Household member of subjects with germline TP53 mutation or variant (LFS), sharing a living space (apartment or free-standing home) for at least 6 months prior to study enrollment.
3. Informed consent for capable participants. OR Parental/legally authorized representative (LAR) permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.

Exclusion Criteria:

1. Parents/LAR or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.
2. Known pregnancy at the time of study enrollment.

Subjects that do not meet all of the enrollment criteria may not be enrolled. Pregnant women will not be actively enrolled, but if a woman becomes pregnant she will not be removed from the study; sample collection will be held during known pregnancy.