Genetic Research for Inherited Eye Diseases

Overseen By Naris Nilubol, M.D.

Age: 18+

Sex: Any

Trial Phase: Phase 1

Sponsor: National Cancer Institute (NCI)

Must not be taking: Chemotherapy, Immunotherapy, Investigational therapies

Disqualifiers: Prior radiation, Infection, Uncontrolled diabetes, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Approved in 6 Jurisdictions This treatment is already approved in other countries

Compensation: Varies

Number of Visits: 9

32 Participants Needed

Trial Summary

What is the purpose of this trial?

Background: Adrenocortical carcinoma (ACC) is a rare cancer of the adrenal glands. ACC often returns after tumors are removed with surgery. Less than 35% of people with ACC survive 5 years after diagnosis. Objective: To test a new type of radiation therapy (external beam radiation therapy \[EBRT\]) before surgery in people with ACC. Eligibility: People aged 18 years and older with ACC that came back after treatment but may be safely removed with surgery. Design: Participants will be screened. They will have a physical exam with blood and urine tests. They will have tests of their heart function. They will have imaging scans. A small sample of tumor tissue may be collected if one is not available. They will undergo laparoscopy: Small incisions will be made in the abdomen so that a thin tube with a light and camera can be inserted to view the organs. EBRT comes from a machine that aims radiation at tumors. Participants will receive EBRT 5 days a week for 2 to 3 weeks. Visits will last 30 to 60 minutes. Participants will undergo surgery to remove their tumors 4 to 8 weeks after they finish EBRT. They will stay in the hospital 1 to 3 weeks after surgery. Participants will have follow-up visits for 10 years after surgery.

Research Team

Naris Nilubol, M.D.

Principal Investigator

National Cancer Institute (NCI)

Eligibility Criteria

The eyeGENE(R) Stage 3 trial is for people of any age with certain inherited eye diseases, such as aniridia, Best disease, blue-cone monochromacy, corneal dystrophy, and pigmentation disorders like albinism. Unaffected relatives may also participate.

Inclusion Criteria

I agree to have a biopsy of my tumor before starting the study treatment.

Breastfeeding participants must discontinue breastfeeding until 4 months following cytoreductive surgery

Ability to understand and willingness to sign a written informed consent document

Exclusion Criteria

I have had another type of cancer in the past 3 years.

I have an adrenal tumor that hasn't been fully diagnosed.

I have had radiation therapy to my abdomen before.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

1 visit (in-person)

Preoperative Radiation Therapy

Participants receive external beam radiation therapy (EBRT) 5 days a week for 2 to 3 weeks

2-3 weeks

5 visits per week (in-person)

Surgery

Participants undergo surgical resection of tumors 4 to 8 weeks after completing EBRT

1-3 weeks (hospital stay)

Inpatient stay

Follow-up

Participants are monitored for safety and effectiveness after treatment, with follow-up visits for 10 years

10 years

Every 3 months for 3 years, then every 6 months for 7 years (in-person)

Treatment Details

Interventions

• Preoperative external beam radiation therapy (EBRT)
• Surgical resection

Trial Overview This study aims to expand a DNA and data repository by collecting saliva or blood samples from participants with rare eye diseases. The collected information will help establish links between genetics and symptoms of these conditions.

Participant Groups

Group I: Preop RT + surgery Experimental Treatment 2 Interventions

Preoperative radiotherapy at escalating doses followed by surgical resection

Surgical resection is already approved in European Union, United States, Canada, Japan, China, Switzerland for the following indications:

Approved in European Union as Surgical resection for:

• Sinonasal melanoma
• Cancerous tumors
• Benign tumors

Approved in United States as Surgical resection for:

• Sinonasal melanoma
• Cancerous tumors
• Benign tumors
• Mediastinal masses
• Esophageal cancers

Approved in Canada as Surgical resection for:

• Sinonasal melanoma
• Cancerous tumors
• Benign tumors

Approved in Japan as Surgical resection for:

• Sinonasal melanoma
• Cancerous tumors
• Benign tumors

Approved in China as Surgical resection for:

• Sinonasal melanoma
• Cancerous tumors
• Benign tumors

Approved in Switzerland as Surgical resection for:

• Sinonasal melanoma
• Cancerous tumors
• Benign tumors

Who Is Running the Clinical Trial?

National Cancer Institute (NCI)

Lead Sponsor

Trials

14,080

Recruited

41,180,000+