Mandated Benefit Review of House Bill 977:
An Act Relative to Providing for Care of
Patients with Mitochondrial Disease
September 2013
Commonwealth
of Massachusetts
Center for Health
Information and Analysis
Áron Boros
Executive Director
Table of Contents
Benefit Mandate Overview: Mitochondrial Disease
History of the Bill
What Does the Bill Propose?
What is Mitochondrial Disease?
Current Coverage
Cost of Implementing the Bill
Plans Affected by the Proposed Benefit Mandate
Plans Not Affected by the Proposed Benefit Mandate
Implications of the Federal Affordable Care Act
Medical Efficacy Assessment: Mitochondrial Disease
What is Mitochondrial Disease?
Pathology
Diagnosis and Prevalence
Potential Causes
Treatments
Treatments Specifically Named in H.B. 977:
Other Established and Emerging Treatments
Cost of Treatments
Endnotes
Appendix - Actuarial Analysis
Benefit Mandate Overview:
Mitochondrial Disease
History of the Bill
Massachusetts General Laws, chapter 3, section 38C requires the Center for Health Information and Analysis (CHIA) to review and evaluate the potential fiscal impact of each benefit mandate bill referred to the agency by a legislative committee.
The Joint Committee on Financial Services referred House Bill (H.B.) 3641, “An act providing for care and treatment of patients with mitochondrial disease,” to the Division of Health Care Finance and Policy (DHCFP) on March 16, 2012 for review. When the new legislative session began on January 2, 2013, a similar bill – H.B. 977 – was filed, and the Committee requested that CHIA, successor agency to DHCFP, modify the scope of the review to reflect the revised bill.*
What does the Bill Propose?
H.B. 977 requires that health insurance plans, defined in the bill, provide “coverage for treatment of mitochondrial disease [including], but not limited to, the use of vitamin and nutritional supplements, such as CoEnzyme Q10, Vitamin E, Vitamin C, Vitamin B1, Vitamin B2, Vitamin K1 and L-Carnitine.”
H.B. 977 focuses on pharmacologic treatment for mitochondrial disease – specifically combinations of vitamin and nutritional supplements. These treatments may take the form of the mito-cocktail and require special ingredients or preparations – some classified as bulk chemicals or medical food, and sometimes requiring the services of a compounding pharmacy. A mito-cocktail may contain anywhere from two to 20 ingredients, of which those specified in H.B. 977 are among the most common.
What is Mitochondrial Disease?
Mitochondrial disease encompasses a group of metabolic disorders characterized by dysfunction of the mitochondria. Organ systems most reliant on oxygen (e.g., brain, muscle, heart) are more often affected by mitochondrial disease, but the illness can affect any cell or organ and presents in vastly different ways, from isolated muscle weakness to multi-systemic illness.
Many illnesses, including autism, ALS, chronic fatigue, muscular dystrophy, cardiomyopathy, epilepsy, cerebral palsy, diabetes, fibromyalgia, and Alzheimer’s, Parkinson’s, and Huntington’s diseases have been linked to mitochondrial disease.
Estimates of prevalence of mitochondrial disease vary, in part because it is difficult to diagnose due to its many possible presentations. However, a 2013 clinical resource that synthesized findings from several studies found an overall prevalence of primary mitochondrial defects of between 11.5 and 20 cases per 100,000.ǂ There is currently no known cure for mitochondrial disease, and treatments at this time remain mostly supportive or palliative.
* In November 2012, under Massachusetts General Laws, chapter 224 of the Acts of 2012, the Division of Health Care Finance and Policy was re-named the Center for Health Information and Analysis, along with shifts in certain responsibilities.
ǂ Genge, A. Mitochondrial myopathies: Clinical features and diagnosis. Topic updated Feb. 12, 2013; Accessed Feb. 14, 2013
at http://www.uptodate.com.
Current Coverage
Six major Massachusetts health insurers surveyed by CHIA do not cover over-the-counter vitamins and supplements, which are included in most of the mito-cocktail therapies named in H.B. 977. Co-Enzyme Q10 was named as a covered benefit by one insurer and a potentially covered benefit by another insurer for patients diagnosed with mitochondrial disease. All insurance companies use a “medical necessity” guideline for coverage of the disease itself, and for treatments that may be required for its potential side effects, such as physical or occupational therapy or cochlear implants.
Cost of Implementing the Bill
Adding this benefit to fully-insured health plans would result in a low-end estimate of adding 2 cents (0.00 percent), and a high-end estimate of adding 14 cents to the typical member’s monthly health insurance premiums (0.03 percent) on average over the next five years.
Plans Affected by the Proposed Benefit Mandate
Individual and group accident and sickness insurance policies, corporate group insurance policies, and HMO policies issued pursuant to the Massachusetts General Laws, as well as the Group Insurance Commission (GIC) policies covering state employees and their dependents would be subject to this mandate.
The proposed benefit mandate laws would apply to members covered under the relevant plans, regardless of whether they reside within the Commonwealth or merely have their principal place of employment in the Commonwealth.
Plans Not Affected by the Proposed Benefit Mandate
Health insurance plans operated as self-insured entities (i.e., where the employer policyholder
retains the risk for medical expenditures and uses the insurer to provide administrative functions)
are subject to federal law and not to state-level mandates. State-mandated health benefits do not apply to Medicare and Medicare Advantage plans and their benefits are qualified by Medicare. Consequently this analysis excludes any members of commercial fully-insured plans over 64 years of age. These mandates also do not apply to federally-funded plans including TRICARE (covering military and dependents), Veterans Administration, the Federal Employees’ Health Benefit Plan, and Medicaid/MassHealth.
Implications of the Federal Affordable Care Act
While this fiscal impact review focuses on premiums in accordance with H.B. 977, Affordable Care Act (ACA) changes have since gone into effect. In accordance with §1311(d)(3)(B) of the ACA and as codified in CFR §155.170, the Commonwealth is required to offset the costs of benefit mandates not included in the state’s Essential Health Benefits (EHB) benchmark plan for individuals enrolled in Qualified Health Plans (QHPs) through the Health Connector, the state’s ACA-compliant Exchange, or outside of the Exchange. Specifically, the costs of these benefit mandates will need to be supported through the state’s operating budget or through other state resources. This would include the costs for any mandated benefits enacted on or after January 1, 2012.
As of September 2013, state benefit mandates enacted on or after January 1, 2012 (and therefore not included in the state’s EHB benchmark plan) include:
1) Cleft Palate and Cleft Lip
(M.G.L. c. 175 § 47BB; M.G.L. c. 176A § 8EE; M.G.L. c. 176B § 4EE; and M.G.L. c. 176G § 4W)
2) Hearing Aids for Children
(M.G.L. c. 175 § 47X(f); M.G.L. c. 176A § 8Y(f); M.G.L. c. 176B § 4EE; and M.G.L. c. 176G § 4N)
3) Oral Cancer Therapy
(M.G.L. c. 175 § 47DD; M.G.L. c. 176A § 8FF; M.G.L. c. 176B § 4FF; and M.G.L. c. 176G § 4X)
Medical Efficacy Assessment :
Mitochondrial Disease
Massachusetts H.B. 977 requires health insurance plans to cover the cost of treatment of persons diagnosed with mitochondrial disease including, but not limited to, the use of vitamin and nutritional supplements, such as CoEnzyme Q10, Vitamin E, Vitamin C, Vitamin B1, Vitamin B2, Vitamin K1 and L-Carnitine. M.G.L. c. 3 § 38C charges the Massachusetts Center for Health Information and Analysis (CHIA), formerly the Division of Health Care Finance and Policy, with reviewing the medical efficacy of mandating the benefit. Medical efficacy reports include the potential impact that each benefit could have on the quality of patient care and health status of the population as well as research results addressing the medical efficacy of the treatment or service compared to alternative treatments.
Evaluating treatment outcomes presents challenges. Patients may report feeling better without measurable evidence of improvement in function or disease status and vice versa. Patient-reported outcomes are increasingly being recognized as valuable data that may merit consideration even when below the threshold of statistical significance
What is mitochondrial disease?
Mitochondrial disease refers to a group of diverse metabolic disorders characterized by dysfunction of the mitochondria.1 Mitochondria are organelles (cell sub-units with functions essential to the cell’s ability to process nutrients and produce energy) that are present in every cell of the body except red blood cells: they generate cells’ energy. With mitochondrial disease, mitochondria cannot efficiently turn sugar and oxygen into energy, so cells do not work correctly.2 Without sufficient energy, cells may become damaged or even die, and one or more bodily functions may become impaired.
While organ systems most reliant on aerobic metabolism (e.g., brain, muscle, heart) are more often affected by mitochondrial disease, the illness can affect any cell or organ and present with a wide range of clinical expression, from isolated muscle weakness to severe multi-systemic illness.3
Mitochondria also play a role in other cellular activities, from regulating cell processes that affect normal human development to producing cholesterol.4 Once thought to be relatively well-defined and quite rare, mitochondrial disease is being identified more frequently as diagnostic capabilities improve.5
Pathology
Mitochondrial disease can present at any age, from birth through adulthood, and affect almost any organ or body function.6 Severity ranges from fatal to essentially asymptomatic and discovered only as an incidental finding. Many of the most dramatic types tend to present in children and often carry a poor prognosis, but there is no typical course or prognosis. Some types develop into chronic and often progressively debilitating disease over the course of a lifetime.7 Presentation and clinical course can be variable and unpredictable – even among similar subgroups – for reasons still not entirely well understood.8
Some conditions related to mitochondrial disease have been defined as named syndromes such as MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke syndrome – a progressive neurodegenerative disorder) or CPEO (chronic progressive external ophthalmoplegia, an eye disorder characterized by progressive inability to move the eyes and eyebrows).9
Depending on which cells of the body are affected, symptoms of mitochondrial disease may include poor growth, muscle weakness, vision or hearing problems, developmental delays, learning disabilities, heart, liver or kidney disease, gastrointestinal disorders, respiratory disorders, diabetes, thyroid problems, increased risk of infection, seizures and other neurological problems,10 dementia11 and other psychiatric disorders.12
Diagnosis and Prevalence
People with mitochondrial disorders not so severe as to be rapidly fatal in childhood often experience struggles over proper diagnosis and adequate treatment. Yet early diagnosis and treatment may offer the only hope of preventing poor outcomes. DNA analysis and muscle biopsy have been among the main tools for diagnosing a mitochondrial disorder, although newer and less invasive diagnostics are under development.13 Adult patients especially may be at risk for any number of misdiagnoses, from fibromyalgia to chronic obstructive pulmonary disease (COPD), if clinicians do not maintain a high index of suspicion for mitochondrial disease as the common root cause of seemingly unrelated problems.14 One clinical resource15 synthesized statistics from several studies in which different geographic areas and populations were sampled and found an overall prevalence of primary mitochondrial defects of at least 13.1:100,000.16, 17, 18, 19, 20 These statistics are likely underestimates of the true prevalence due to under-diagnosis.21, 22
Potential Causes
Mitochondrial diseases are believed to be inherited. They can occur at any age and involve one or more body systems. Most are the result of mutations (changes) in DNA located in the nucleus of the cell, or in the mitochondria of a cell.23 Some mitochondria become poorly functioning because of another disease process (including other chromosomal disorders), exposure to toxins or viruses, or other inherited genetic mutations that are not disease-causing until “triggered” by some other
genetic factor.24
Treatments
Despite significant advances in understanding mitochondrial disease,25 there is still no known cure, and treatment remains mainly supportive or palliative. Treatments are of necessity individualized because “no two people will respond to a particular treatment in a specific way even if they have the same disease.”26 The results of a recent survey on expert practice are currently being compiled in an attempt to continue to inform this process.27
H.B. 977 focuses on pharmacologic treatment, specifically combinations of vitamin and nutritional supplements. Some of these vitamins and supplements may be available over-the-counter in forms and dosages suitable for use in mitochondrial patients who are able to swallow many pills, while others may not. These pharmacologic treatments may take the form of the mito-cocktail and require special ingredients or preparations, some classified as bulk chemicals or medical food, and sometimes requiring the services of a compounding pharmacy.
While some pharmacologic agents mandated by H.B. 977 appear to be beneficial in the treatment of mitochondrial disease or its side effects,28 none have demonstrated a long-term benefit for clinically important outcomes on a statistically significant, generalizable level.29 Vitamin and nutritional support for pathways known or suspected to be affected in mitochondrial disease seem to have become general practice30 despite the lack of strong evidence, specific guidelines, or expert consensus.31 Of note, secondary disorders such as diabetes or hearing loss may result from mitochondrial disease and should continue to be treated by the standard of care for those particular conditions.
For children, standard dosing is often weight-based and changes over time. Mitochondrial disease in children – especially the most severe variety – may be treated differently from those in adults. Prevention of avoidable complications is another important consideration of care.32
Treatments specifically named in H977:
Coenzyme Q10 (CoQ10) (also called ubiquinone) is an essential cofactor in the mitochondrial respiratory chain as well as an antioxidant.33 It is the primary ingredient in most mito-cocktails. Supplementation is thought to enhance the activity of electron transport chain (cellular energy-generating process) enzymes when they are deficient, which is often considered to be the case in mitochondrial disease.34 35 Reduced fatigue, reduced muscle cramps, and isolated reports of clinical and metabolic improvement have been documented with the use of this supplement.36
Vitamin E is an antioxidant.37 Antioxidants help to minimize the presence of “free radicals” that attack healthy cells. They may prevent further damage to the mitochondria and other parts of the cell caused by imbalances in other processes resulting from mitochondrial disease.