National Ophthalmic Genotyping and Phenotyping Network (eyeGENE(R)), Stage 3-Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
NCT Number: NCT06487481
Status: NOT_YET_RECRUITING
Study Type: INTERVENTIONAL
Phases: PHASE1
Conditions: Adrenocortical Carcinoma (ACC)|Recurrent Adrenocortical Carcinoma (ACC)|Recurrent Abdominal Adrenocortical Carcinoma (ACC)|Carcinoma, Adrenocortical|Carcinoma, Adrenal Cortical
Interventions: RADIATION: Preoperative external beam radiation therapy (EBRT)|PROCEDURE: Surgical resection
Sponsor: National Cancer Institute (NCI)
Sex: ALL
Age: ADULT, OLDER_ADULT
Enrollment: 32
Study Design: Allocation: NON_RANDOMIZED|Intervention Model: SINGLE_GROUP|Masking: NONE|Primary Purpose: TREATMENT
Start Date: 2024-09-10
Completion Date: 2040-12-01
Locations: National Institutes of Health Clinical Center, Bethesda, Maryland, 20892, United States

Summary:
Background:

The eyeGENE(R) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped them create better treatments. Now researchers want to expand eyeGENE(R) to include more people for certain eye diseases.

Objective: To collect information and DNA samples for the study of eye diseases.

Primary objective

-To expand the current eyeGENE(R) data repository with targeted participant accrual

Secondary objectives

* To enhance recruitment for clinical trials and investigations in inherited eye diseases
* To establish genotype-phenotype correlations for rare eye diseases

Eligibility:

People of any age with certain eye diseases. These can include aniridia; Best disease; blue-cone monochromacy; corneal dystrophy; and disorders of pigmentation, such as albinism. Relatives unaffected by the eye disease of interest may also be needed.

Design:

Researchers will select participants based on their diagnosis. The data may include images and test results from eye exams.

Participants will provide a sample of saliva. They will receive a kit with written instructions. They will spit in a tube and mail it to the NIH.

Participants may be asked to provide a blood sample. The blood may be drawn at the NIH or at a local clinic.

The eyeGENE(R) repository will offer researchers data about the participants eye conditions. The data may include pictures of their eyes, results of genetic testing, and history of other diseases. Researchers will be able to see data such as age and gender, but they will not see names, dates of birth, or contact information.

Primary Outcome Measures: Determine the maximum tolerated dose (MTD) and safety and toxicity profile of preoperative external beam radiation therapy (EBRT) with or without standard-of-care mitotane, before surgical resection, Fraction of participants with a dose-limiting toxicity (DLT) will be reported at each dose level, from the start of EBRT and for 30 days after its completion
Secondary Outcome Measures: Determine the 6 weeks postoperative complications per Clavien-Dindo classification, Assessment of 30-day postoperative EBRT complications determined by Clavien-Dindo classification (frequency and and severity), baseline, until 6 weeks after cytoreductive surgery|Determine the objective response of ACC in the field of radiation per RECIST criteria, Objective response determined by RECIST, results as fraction in evaluable participants and by 95% confidence interval, baseline, every 3-6 months after cytoreductive surgery for up to 10 years after surgery|Assess in-field intraabdominal progression-free survival (PFS), In-field intraabdominal progression-free survival (PFS) determined by RECIST using the Kaplan-Meier method, baseline, every 3-6 months after cytoreductive surgery for up to 10 years after surgery|Determine overall survival (OS) through 10 years postoperatively, Overall survival (OS) up to 10 years postoperatively determined by RECIST using the Kaplan-Meier method, baseline, every 3-6 months after cytoreductive surgery for up to 10 years after surgery|Assess quality of life measured by Short Form-36 Health Survey version 2.0 (SF-36 v2) questionnaire, Quality of life (QOL) measured by SF-36 v2 questionnaire evaluated using appropriate paired tests and descriptive results, baseline, 6 weeks after EBRT, and then 2 weeks, 6 weeks, 6 months and 12 months after surgery