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The case management model is a multidisciplinary approach that involves healthcare professionals from diverse disciplines, such as physicians, nurses, therapists, social workers, and pharmacists, working collaboratively to address the various needs of patients. Each healthcare professional brings unique expertise and perspectives, contributing to a more comprehensive understanding of the patient's condition and tailoring treatment plans accordingly.
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The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
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  7. Te Hauora Me Te Oranga O Te Māori (māori Health And Wellbeing)
  9. Te Whaikaha Me Te Māori (māori And Disability)
  11. Signs, Symptoms, And Health-related Quality Of Life In Melas: Measuring What's Important From The Patient And Clinician Perspectives

Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives

Paolo Medrano1, Benjamin Banderas2, Marisa Brimmer2

  • 1Adelphi Values, One Lincoln Street, Suite 2900, Boston, MA, 02111, USA. paolo.medrano@omc.com.

Journal of Patient-Reported Outcomes
|October 27, 2025

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View abstract on PubMed

Summary
This summary is machine-generated.

Patients with MELAS can accurately report their symptoms and quality of life impacts. Fatigue and cognitive issues are significant concerns for MELAS patients, highlighting their importance in clinical trials.

Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases
Keywords:
Concept elicitationMELASMitochondrial diseaseMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes

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Background:

  • Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a rare genetic disorder.
  • Limited research exists on the patient experience of MELAS.

Purpose of the Study:

  • To understand the patient experience of MELAS.
  • Identify and describe signs, symptoms, and health-related quality of life (HRQoL) impacts (S/S/I).

Main Methods:

  • Qualitative interviews with 5 MELAS experts and 16 adult patients.
  • Semi-structured interview guides were used.
  • Interviews were recorded, transcribed, anonymized, coded, and analyzed.

Main Results:

  • Patients reported 35 S/S concepts and 68 HRQoL impacts across 15 domains.
  • Most frequent S/S: physical fatigue (93.8%), hearing loss (81.3%), mental fatigue (75.0%).
  • Most frequent HRQoL impacts: adaptive behaviors and work (87.5%), emotional function (81.3%).

Conclusions:

  • Patients with MELAS can self-report their S/S/I.
  • Fatigue and cognitive impairment are frequent, bothersome symptoms.
  • These symptoms should be key outcome measures in MELAS clinical trials.
Patient-centered outcomes
Qualitative interviews