Expanded Access Program for R007 (Probucol) Tablets in Adults With Mitochondrial Disease and Chronic Kidney Disease

NCT06931834 | Unknown

• 1 other identifier: EP2025010101
• Study Type: expanded_access
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this expanded access program is to enable access to R007 (probucol) tablets for the compassionate treatment of adults with mitochondrial disease who also have chronic kidney disease.

Conditions

Mitochondrial Disease; Chronic Kidney Disease

Keywords

Mitochondrial disease; Chronic kidney disease; Myopathy; Genetic disease; Rare disease; Probucol

Interventions

Probucol DRUG

Probucol 250 mg tablets orally up to a daily dose of 1,000 mg

Also known as: R007, Lorelco

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• A patient must meet all of the following criteria to be eligible:
• Age 18 to 75 years inclusive;
• Diagnosis of genetically-confirmed mitochondrial disease with a pathogenic mutation or defect in their mitochondrial or nuclear DNA;
• Diagnosis of chronic kidney disease stage 3 or stage 4;
• Moderate or severe symptomatology of mitochondrial disease;
• A sexually-active patient agrees to practice acceptable methods of contraception throughout the protocol period;
• The patient is not eligible for, or does not have access to, a clinical trial;
• The patient (or guardian/legal representative) provides signed and dated informed consent to be treated with probucol in accordance with the expanded access protocol.

You may not qualify if:

• A patient who meets any of the following criteria will not be eligible:
• A known hypersensitivity or adverse reaction to probucol;
• A medical condition or laboratory result that, in the opinion of the treating physician, will interfere with the safe completion of the protocol;
• An active fungal infection, acute blood, lung, or bladder infection, clinically significant hepatic or renal dysfunction, and/or viral infection (past or present) that, in the opinion of the treating physician, may have a clinically significant effect on their treatment;
• Taking an investigational drug other than probucol within one month prior to the first dosing with probucol under the protocol;
• A medical history or condition that increases the potential for QTc prolongation;
• A female with a positive pregnancy test result or who is breastfeeding;
• Has received or is receiving kidney dialysis;
• Has received or is scheduled to receive an organ transplant;
• Known or suspected active alcohol and/or substance abuse;
• A history of or current suicidal ideation, behavior, and/or attempts; or
• Is unable to swallow tablets or requires gastric feeding.

Sponsors & Collaborators

• RiboNova Inc.: lead
• Children's Hospital of Philadelphia: collaborator

Study Sites (1)

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

AVAILABLE

MeSH Terms

Conditions

Mitochondrial Diseases; Renal Insufficiency, Chronic; Muscular Diseases; Genetic Diseases, Inborn; Rare Diseases

Interventions

Probucol

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Renal Insufficiency; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Phenols; Benzene Derivatives; Hydrocarbons, Aromatic; Hydrocarbons, Cyclic; Hydrocarbons; Organic Chemicals

Study Officials

• Zarazuela Zolkipli-Cunningham, MBChB

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Zarazuela Zolkiplki-Cunningham, MBChB

CONTACT

267-426-4961; MMFP@chop.edu

Sara Nguyen, MPH

CONTACT

267-426-1986; MMFP@CHOP.edu

Study Design

• Study Type: expanded access
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 4, 2025
• First Posted: April 17, 2025
• Last Updated: April 17, 2025

Record last verified: 2025-04

Locations

US (1)