Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT00700414 |
| Other study ID # |
IPACTR |
| Secondary ID |
|
| Status |
Recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
October 1, 2001 |
| Est. completion date |
December 2040 |
Study information
| Verified date |
August 2023 |
| Source |
St. Jude Children's Research Hospital |
| Contact |
Raul C Ribeiro, MD |
| Phone |
866-278-5833 |
| Email |
referralinfo[@]stjude.org |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
This study aims to collect demographic and medical information including detailed family
history of cancer of children and adolescents with adrenocortical tumors in order to learn
more about the clinical and epidemiological aspects, treatment modalities, and outcome of
patients with this rare disease, worldwide.
In addition, investigators at St. Jude Children's Research Hospital (SJCRH) plan to perform
molecular studies of tumor cells aimed to clarify the role of the TP53 gene and other genetic
pathways in these tumors. They aim to obtain relevant biological material from participants
with adrenocortical tumor (ACT), their biological parents, and relatives for determination of
the TP53 germline status, molecular studies of the TP53 gene, and other molecular pathways.
Description:
Adrenocortical tumors (ACT) are rare cancer types that form in the outer layer of the adrenal
gland and are very uncommon in children and teenagers. There is variation in pediatric ACT
incidence worldwide. In the United States, only about 25 new cases of ACT per million per
year, making this a very rare tumor. However, in southern Brazil, the annual incidence of ACT
is 15 times that seen in the United States accounting for 3.4-4.2 per million per year.
Molecular studies have revealed that the majority of children with ACT, particularly those
younger than 4 years of age, have constitutional TP53 mutations and/or imprinting defects at
chromosome 11p as observed in Beckwith Wiedemann syndrome (BWS) patients. Some mutations, as
exemplified by the R337H TP53 germline mutation, in which the function of the mutant protein
is relatively preserved, the history of cancer in the carriers and their families is
relatively unremarkable. In other cases, the TP53 mutated gene encodes a
functionally-impaired protein that predicts for a pervasive history of familial cancer
(Li-Fraumeni syndrome). Therefore, these observations have implications for genetic
counseling of families with childhood ACT and underscore the importance of genotype-phenotype
correlations in familial cancer syndromes.
The creation of a rare tumor registry provides a mechanism to collect information that cannot
be gathered in a single institution. The analysis of the registry data would permit an
overview of the clinical, epidemiological, current treatment standards, and survival data of
these patients and thus create opportunities for research. It also may facilitate the
development of treatment consensus among investigators who register their patients and help
to design future studies. Moreover, the combined Children's Oncology Group (COG) and IPACTR
studies are expected to provide meaningful insight into the biology of ACT, including
clinical phenotype/genotype relationships, treatment outcome and long-term follow-up data in
subjects with this rare tumor. Finally, it would provide data on the long-term consequences
of exposure to tumor-secreted androgens (found in more than 80% of the pediatric cases) on
children's growth and development.
