Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self-Reported Data

Area of Science:

• Genetics
• Rare Diseases
• Clinical Manifestations

Background:

• Myhre syndrome is an ultrarare genetic disorder with poorly understood natural history.
• Characterized by short stature, craniofacial anomalies, fibrosis, stenosis, neurodevelopmental delays, and hearing loss.
• Limited patient population and symptom heterogeneity hinder comprehensive understanding.

Purpose of the Study:

• To expand knowledge of Myhre syndrome manifestations.
• To document patient and caregiver concerns.
• To characterize the disease through a global patient registry.

Main Methods:

• Established the Myhre Syndrome Patient Registry.
• Collected self-reported questionnaire data from 105 individuals with Myhre syndrome.
• Data sourced from 24 countries, capturing symptoms and quality of life.

Main Results:

• The study describes self-reported data from 105 Myhre syndrome patients across 24 countries.
• This data provides insights into the heterogeneity of Myhre syndrome symptoms.
• Patient and caregiver concerns related to the disease are documented.

Conclusions:

• The Myhre Syndrome Patient Registry data significantly expands the understanding of Myhre syndrome.
• This research highlights the importance of patient-reported outcomes in rare disease characterization.
• Further research is needed to fully elucidate the natural history and management of Myhre syndrome.