The Alpers Awareness Foundation

01/29/2026

Another potential systemic treatment for Alpers.

Mitochondrial Transplantation as a Therapeutic Strategy for
Inherited Mitochondrial Diseases

08/07/2025

Mitochondrial disease management through phytochemical interventions

Mitochondrial diseases are a diverse group of disorders caused by dysfunction in mitochondria, the energy-generating organelles of cells. These disorders result from mutations in either nuclear or mitochondrial DNA and can be classified as primary (genetic origin) or secondary (environmentally induc...

07/31/2025

Not specifically regarding Alpers, but informative.

Therapies for Mitochondrial Disease: Past, Present,
and Future

01/16/2025

Gene editor may have cured infant of a deadly metabolic disorder

Result could be first success at stitching a curative gene into a chromosome’s “safe harbor,” reducing cancer and other risks

11/12/2024

It's hard to say how this might address Alpers specifically, and it may take some time to fruition, but gene editing is potentially another Holy Grail.

Unconstrained Mitochondrial Base Editors

10/18/2024

Finally, at least a rapid diagnosis is around the corner:

Critically unwell infants and children with mitochondrial disorders diagnosed by ultra-rapid genomic sequencing

07/22/2024

Very promising results of an oral treatment for Alpers! The 6 young patients with Alpers are: #1 (age 8 years), #2 (age 2 years), #4 (age 6 years), #7 (age 11 years), #9 (age 2 years), #10 (age 2 years). After the 6-month trial, their results are noted in Table 3. All except #10 showed marked improvements. This could be a very viable candidate for treatment.

Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single-arm, phase 2 trial

05/09/2024

A new book, "Rare Genetic Disorders" features a chapter on "Current Insights into the Potential of Gene Therapy to Treat Rare Mitochondrial Diseases".

Mitochondrial disorders represent a rare category of diseases that arise from abnormalities in essential proteins necessary for the proper functioning and maintenance of mitochondria. These mutations disrupt the proteins and activities associated with mitochondria,...

04/23/2024

Zebrafish and Alpers?

The human mitochondrial DNA polymerase gamma is a holoenzyme, involved in mitochondrial DNA (mtDNA) replication and maintenance, composed of a catalytic subunit (POLG) and a dimeric accessory subunit (POLG2) conferring processivity. Mutations in POLG or POLG2 cause POLG-related diseases in humans, l...

03/15/2024

Another detailed study on a Ketogenic Diet.

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease

Mitochondrial diseases (MDs) are a heterogeneous group of disorders resulting from abnormal mitochondrial function. Currently, there is no causal treatment for MDs. The aim of the study was to assess the effectiveness and safety of the ketogenic diet (KD) in patients with MD and to analyse selected....

03/15/2024

Stay tuned...

Nucleoside supplements as treatments for mitochondrial DNA depletion

Nucleoside therapy is a promising treatment. Patients with mitochondrial DNA depletion syndrome (MDS), due to thymidine kinase 2 mutations, are supplemented with deoxy-pyrimidines. Previous studies have shown that supplementing polymerase gamma and deoxyguanosine kinase deficient myotubes with deoxy...

08/31/2023

Some great work on mito R&D from the Broad Institute:

Whole genomes from hundreds of thousands of people reveal new complexity in how the nuclear and mitochondrial genomes interact, which may influence how cells produce energy.