paving the way to treatment

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Mitochondrial disease is an energy production problem that primarily affects the muscular and neurological systems. Studies indicate the ones represented by circles closest to the center are more influenced. The Facts: • Mitochondria, the body’s cellular “power plants”, produce the body’s essential energy. When they don’t—there is a “power failure.” • 1 in 2,500 are affected by mitochondrial disease. • Mitochondrial disease is more common than childhood cancer. • The disease can appear at any age, infancy to adulthood. • If you know someone with Alzheimer’s, Parkinson’s, or Autism, than you are connected to mitochondrial disease. Paving the Way to Treatments and Cures The Foundation for Mitochondrial Medicine Atlanta, Georgia • www.mitochondrialdiseases.org • 1-888-448-1495

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Page 1: Paving the Way to Treatment

Mitochondrial disease is an energy production problem that primarily affects the muscular and neurological systems.

Studies indicate the ones represented by circles closest to the center are more influenced.

The Facts:

• Mitochondria, the body’s cellular “power plants”, produce the body’s essential energy. When they don’t —there is a “power failure.”

• 1 in 2,500 are affected by mitochondrial disease.

• Mitochondrial disease is more common than childhood cancer.

• The disease can appear at any age, infancy to adulthood.

• If you know someone with Alzheimer’s, Parkinson’s, or Autism, than you are connected to mitochondrial disease.

Paving the Way to Treatments and Cures

The Foundation for Mitochondrial MedicineAtlanta, Georgia • www.mitochondrialdiseases.org • 1-888-448-1495

Page 2: Paving the Way to Treatment

The Foundation for Mitochondrial Medicine Clinical Program at UAB

The Foundation for Mitochondrial Medicine, The University of Alabama Birmingham and Seahorse Bioscience have embarked upon creation of the first academic medical institution-biotech industry-philanthropic partnership for mitochondrial clinical care and research advancements.

The Foundation for Mitochondrial Medicine Clinical Program at UAB will:• Respond to the unmet clinical, diagnostic and therapeutic needs of the patient

community impacted by mitochondrial disorders;

• Leverage UAB mitochondrial research in the field of translational bioenergetics;

• Address the growing scientific and clinical market of testing instruments for the fields of metabolomics and bioenergetics;

The Foundation for Mitochondrial Medicine Clinical Program at UAB

Two components will be developed in parallel: 1. a multi-disciplinary clinic for adult and pediatric mitochondrial patients

2. a CLIA* certified mitochondrial clinical laboratory with new state-of-the art blood tests, including a Bioenergetics Health Index (BHI), to measure mitochondrial function *Clinical Laboratory Improvement Amendments—Congressional quality standards

The expected outcome is to have an integrated clinic that serves the patients’ needs and provides the clinical testing protocols for diagnosing and monitoring therapeutic interventions for mitochondrial dysfunction. The clinic: • A monthly multi-disciplinary clinic to evaluate and care for adult and pediatric

patients staffed by specialist physicians (adult and pediatric neurologist, geneticist, coordinated consultations from a pain management specialist and gastroenterologist, among others as relevant), a nurse navigator, physical therapist, occupational therapist and dietitian.

• The Nurse Navigator will play a key role with objectives to: coordinate, schedule and manage patient care; liaise with the multiple specialists to form a comprehensive view and treatment plan for the patient; hold monthly case management discussions with clinic staff to highlight shared learnings and important observations impacting the various functional areas; centralize reporting for Bioenergetics Health Index testing and other tests.

The CLIA laboratory: • Develop state-of-the-art non-invasive blood tests for bioenergetic health from

the research of the UAB Mitochondrial Medicine Laboratories.

• The BHI blood tests measuring mitochondrial function will be a better method of diagnosing mitochondrial disease (serving as a surrogate for the traditional muscle biopsy), and will also help monitor the stability of a patient over time as well as measure efficacy of therapeutics to improve patients’ lives.

• The BHI blood tests measuring mitochondrial function can also be applied to patients with Parkinson’s, Alzheimer’s and other related diseases, where mitochondrial dysfunction is a key contributor.

• Additionally, obtain CLIA certification for standard tests using the Seahorse platform technology and validate new approaches with current diagnostics.

Grace Elva MartinNurse Navigator

A multi-disciplinary program where pediatric and adult patients can be diagnosed, treated and regularly evaluated; where care is coordinated,

learnings are shared and collaboration is fostered for longer-term translational research outputs

FOUNDATION FOR MITOCHONDRIAL MEDICINE CLINICAL PROGRAM AT UAB

SEAHORSEBIOSCIENCE

SUPPORT

BLOOD TESTS AND TISSUE

SAMPLES

Clinical Research

Laboratory

DIAGNOSTICS

DISEASE MONITORING

NEWTREATMENTS

FMM ClINICAT UAB

1. Liase with multiple specialists to form a comprehensive view of the patient (initially 120 patient encounters, annualized)

2. Centralize reporting for testing, samples (population science) to create grants / reports

3. Provide support and information sharing for the patient community with website FAQ responses leveraging FMM and content partners

GASTROENTEROLOGY

PAIN MANAGEMENT;

ANESTHESIOLOGY

PhysicalTherapy;

OccupationalTherapy;Dietician

GENETICIST

NEUROLOGY;NEUROMUSCULAR