Clinical trial NCT06931834: Expanded Access Program for R007 (Probucol) Tablets in Adults With Mitochondrial Disease and Chronic Kidney Disease
Official title: Expanded Access Treatment Protocol for R007 (Probucol) Tablets in Adults With Genetically-Confirmed Mitochondrial Disease and Chronic Kidney Disease (Intermediate-Size Patient Population)
Study type: EXPANDED_ACCESS
Overall status: AVAILABLE
Conditions: Mitochondrial Disease
Chronic Kidney Disease
Keywords: Mitochondrial disease
Chronic kidney disease
Myopathy
Genetic disease
Rare disease
Probucol
Lead sponsor: RiboNova Inc.
Sponsor class: INDUSTRY
Collaborators: name: Children's Hospital of Philadelphia
First posted: 2025-04-17
Sex: ALL
Minimum age (years): 18
Maximum age (years): 75
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no

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.

Detailed description: The protocol for this expanded access program provides for the compassionate treatment with R007 (probucol) tablets of adults who (i) have serious or life-threatening mitochondrial disease and also have chronic kidney disease stages 3 or 4, (ii) do not have access to a satisfactory alternative therapy to treat their condition, and (iii) are not able to enroll in a clinical trial.

Eligibility criteria: Inclusion Criteria

A patient must meet all of the following criteria to be eligible:

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

Exclusion Criteria

A patient who meets any of the following criteria will not be eligible:

1. A known hypersensitivity or adverse reaction to probucol;
2. A medical condition or laboratory result that, in the opinion of the treating physician, will interfere with the safe completion of the protocol;
3. 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;
4. Taking an investigational drug other than probucol within one month prior to the first dosing with probucol under the protocol;
5. A medical history or condition that increases the potential for QTc prolongation;
6. A female with a positive pregnancy test result or who is breastfeeding;
7. Has received or is receiving kidney dialysis;
8. Has received or is scheduled to receive an organ transplant;
9. Known or suspected active alcohol and/or substance abuse;
10. A history of or current suicidal ideation, behavior, and/or attempts; or
11. Is unable to swallow tablets or requires gastric feeding.

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: The Children's Hospital of Philadelphia
state: Pennsylvania
Study officials:
affiliation: Children's Hospital of Philadelphia
name: Zarazuela Zolkipli-Cunningham, MBChB
role: PRINCIPAL_INVESTIGATOR
References: