An ad hoc committee of the National Academies of Sciences, Engineering, and Medicine will review selected heritable conditions related to connective tissues and produce a report addressing the current status of the diagnosis, treatment, and prognosis of those conditions in adults and children based on published evidence (to the extent possible) and professional judgement (where evidence is lacking):
1. Provide an overview of the current status of the diagnosis, treatment, and prognosis of selected heritable connective tissue disorders, including but not necessarily limited to Ehlers-Danlos syndrome and Marfan syndrome, in the U.S. population and the relative levels of functional limitation typically associated with the disorders and their common treatments.
2. For the connective tissue disorders identified in task 1, describe to the degree possible:
a. The average age of onset and gender distributions;
b. The professionally accepted diagnostic techniques used in identifying the disorders (e.g., laboratory test results and clinical findings) and how the techniques differ for adults and children (if applicable);
c. The methods in common use for differentiating clinical or medical severity (e.g., classifiers such as “moderate” or “severe”), what the method entails (e.g., a specific laboratory test) and what the findings from these methods mean in terms of treatment, prognosis, and functional limitation;
d. The usual clinical course of the disorders, including any differences in the clinical course of the disorders for adults and children (if applicable);
e. The likelihood, frequency, and duration of changes in the clinical or medical severity of symptoms, such as flare-ups or remissions (if applicable);
f. The possibility and likelihood of reducing the work-related severity of symptoms (if applicable), and the treatments or circumstances that may lead to vocationally-relevant improvement; and
g. Secondary impairments that result from either the disorders or their treatments (if applicable).
3. For the connective tissue disorders identified in task 1, identify the types of treatments available and describe to the degree possible:
a. The clinical practice guidelines for receiving the treatments;
b. The settings in which the treatments are provided;
c. What receipt of the treatments indicates about the clinical or medical severity of the medical condition;
d. The likelihood of improvement when receiving the treatments and the period over which the improvement would be expected; and
e. Any limitations on the availability of the treatments (other than due to financial circumstances or the patient’s preferences), such as whether treatments are considered experimental, remain in the trial phase, or are limited to certain geographic areas.
4. For the connective tissue disorders identified in task 1, provide a summary of selected treatments currently being studied in clinical trials.
5. For the connective tissue disorders identified in task 1, identify to the degree possible the functional limitations associated with each disorder, including physical functioning limitations, mental functioning limitations, limitations resulting from common treatments, and variations in functioning (e.g., during flare-ups vs. remission), and how such limitations would present in a typical medical record.
6. For the connective tissue disorders identified in task 1, identify non-exertional physical limitations (e.g., balancing or using the upper extremities for fine or gross movements) and mental limitations (e.g., cognitive or behavioral) that are equivalent in severity to the standard represented in the listings (i.e., that would prevent any gainful activity) but are not captured by currently existing listings and are not currently reflected in SSA’s disability grid rules.
The report will include conclusions but not recommendations.
In the report, when terms such as “severity” or “severe” are used, the committee shall identify to the degree possible whether the term is being used with SSA’s work-related program definition (i.e., an impairment of such severity as to be the basis of a finding of an inability to engage in any substantial gainful activity) or as it is used in the clinical or medical care settings, and, if necessary, will specify the pertinent differences between the two definitions.
The committee shall not describe issues with respect to access to treatments due to financial circumstances, including insurance limitations.*
*While SSA recognizes some patients may have difficulty accessing care or particular forms of treatment due to financial circumstances, others do successfully access those treatments. SSA may receive information about those treatments in the medical records SSA considers when making disability determinations and conducting continuing disability reviews (CDRs). SSA understands improvement is not certain in all cases. SSA makes individual decisions on each case based on all the evidence they receive.