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Quality of Life

Ollier Disease

Maffucci Syndrome

Mucopolysaccharidosis Type IV

The group comprises all patients affected by Ollier Disease and Maffucci Syndrome.

Marina Mordenti, PhD

Manila Boarini, MSc

Luca Sangiorgi, MD, PhD, MS

REM is a retrospective and prospective registry, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc..

This approach has been individuated in order to corroborate and integrate data from different resources and aspects of the diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology.

The common way to collect patient information is frequently chaotic and inconvenient (sometimes even unsafe), particularly when dealing with rare diseases. The need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, suggested in 2013 to implement the Registry of Ollier Disease and Maffucci Syndrome (ROM).

The ROM relies on an IT Platform named Genotype-phenotype Data Integration platform -GeDI.This solution, realized by a collaboration among Medical Genetic Department and a local software-house (NSI - Nier IT Solution), is a General Data Protection Regulation (GDPR)-compliant, multi-client, web-accessible system and it has been designed according to current medical informatics standards (Orphanet code, ICD-10, Human Genome Variants Society, Findability Accessibility Interoperability Reusability Principles). GeDI is continuously implemented to improve management of persons with Ollier Disease and Maffucci Syndrome and to help researchers in analysing collected information. ROM is articulated in main sections:

Personal data: it comprises general information, birth details and residence data Patient data: including the patients internal code, the hospital code and other details on patients Diagnosis: the diagnosis, the status (affected, suspect, etc.), age at diagnosis, comorbidities, allergies, etc.

Genogram: a tool to design family transmission of the disease, flanked by info on diseases status of all included relatives Clinical events: records 23 signs and symptoms of Ollier Disease and Maffucci Syndrome and 12 additional items to describe the disease Genetic Analysis and Alteration: including technique, sample information, duration of analysis, etc. In addition, this section comprises detailed information on detected pathological variants (gene, international reference, DNA change, Protein change, genomic position, etc.) Visits: it includes the typology of the visit (genetic, orthopaedic, rehabilitation, paediatric, etc.), the date of the visit, treatment, prescription, imaging, etc.

Surgeries: this section contains information on the surgeries type, the age of the patients, the site/localization of the procedures, etc.

Documents: this repository is allowed to store all type of documents (radiological reports, imaging, consents, clinical reports, etc.) Consents: this section comprises a complete overview of all collected consents, including the date of collection.

Samples: it comprises the type of samples (DNA, tissue, whole peripheral blood, etc.)

Whole peripheral blood, DNA, lymphocytes, tissues

Registry of Ollier Disease and Maffucci Syndrome

Registry of Ollier Disease and Maffucci Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample

This outcome aims to investigate the evolution of Ollier Disease and Maffucci Syndrome during time.

Main clinical features evaluated:

* Height (cm) age-related (compared to growth chart)
* Number and localization of enchondromas
* Number and localization of deformities
* Number and localization of functional limitations
* Site at malignant transformation (adult)
* Age at malignant transformation (adult)

Number: count of enchondromas, deformities, etc. Localization: defined using bone affected, site (proximal, distal, etc.) and side (left, right, both)

Those data will be collected both retrospectively and prospectively for all patients via physical examination, clinical reports and imaging.

An evaluation of these parameters will be performed at each visit to keep trace on the progression of the clinical manifestations. Data will be collected to define annualized rate of new clinical manifestations related to age, using analyses such as Kaplan-Meyer and surviving rate.

To maintain an established registry in order to assess epidemiology and natural history (such as incidence, prevalence, etc.).

Collection of:

1. Physical examinations data:

   * BMI (kg/m\^2)
   * Number and localization of sites affected by enchondromas
   * Presence/absence of angiomas
   * Localization and number of deformities
   * Localization and number of functional limitations
2. Surgical procedures disease-related:

   * Type of surgeries
   * Number of surgeries
   * Site of surgeries
   * Age at surgeries
3. Genetics background: studies of somatic variants
4. Family history: anamnestic family information

Number: count of enchondromas, deformities, etc. Localization: defined using bone affected, site (proximal, distal, etc.) and side (left, right, both)

Clinical, orthopaedic and functional features are updated at each follow up. Clinical reports, medical charts and imaging are the primary source of data.

Despite the unclear genetic background of Ollier disease and Maffucci syndrome, the secondary outcome aims to correlate genotype and phenotype. This includes, but is not limited to clinical features and genetic background. This will be pursued using the information collected during visits and follow-ups and the genetic information resulting from molecular investigations.

Luca Sangiorgi

Head of Departement of Rare Skeletal Disorders

Infections

Respiratory Tract (Lung and Bronchial) Diseases

COVID-19

Facies

Virus Diseases

Coronavirus Infections

Severe Acute Respiratory Syndrome

Osteogenesis Imperfecta

Osteophyte

Genetic Diseases, Inborn

Rheumatic Diseases

Collagen Diseases

Connective Tissue Diseases

Hyperostosis

Neoplastic Syndromes, Hereditary

Acute Graft Versus Host Disease

Luca Sangiorgi, MD, Phd

In the COVID-19 outbreak context, people living with rare diseases have been highly troubled with anxiety, loneliness, and depression. The project evaluates resilience and coping strategies to address pandemic impact by discussion in a dedicated focus group using a web-based platform. The goal is to improve, in a sustainable manner, the coping skills and psychological well-being of children, adolescents, and young adults affected by rare skeletal diseases.

March 11th, 2020, the World Health Organization (WHO) declared the SARS-CoV-2 pandemic accordingly with the spread and size of the infection.

The restrictions implemented by the governments have substantially changed people's lifestyles, facilitating the emergence of emotions such as fear, anxiety, and a sense of loneliness.

The age groups most involved by these burdens have been childhood, adolescence, and young adults. These groups have experienced dramatic changes in their daily life in order the relational, educational, and social networks. Nonetheless, these links outline the ideal environment for the development of resilience and the promotion of coping strategies to face traumatic events.

These lifestyle challenges and their consequences are even more evident in the context of the rare diseases since the outbreak containment measures have emphasized the troubles with which people affected by these conditions are daily forced to confront, in terms of access to care and treatments, resulting in increased stress and anxiety.

The current phase represents a sensitive step for the resumption of the activities in charge of the health and social service aimed at the citizens and especially to people with special needs, such as people suffering from rare diseases.

The pandemic experience has promoted new forms of meeting and contact between individuals using web-based platforms, playing a fundamental role in preserving the community and "sociality" dimensions.

In this scenario, the rare diseases could be an attractive model since the pandemic impinges over their bio-psycho-social characteristics at different levels. Resilience and coping strategies adopted by rare diseases patients could configure as an exemplum to face the psychological distress resulting from anti-pandemic measures, suggesting new approaches of taking charge by health service.

This study evaluates resilience and coping strategies to address pandemic impact by discussion in a dedicated focus group using a web-based platform. The goal is to improve, in a sustainable manner, the coping skills and psychological well-being of children, adolescents, and young adults affected by rare skeletal diseases.

Resilience and Coping in a Rare Skeletal Disease Population to Face Coronavirus (COVID-19) Outbreak Distress: a Longitudinal Study

Exploring Resilience and Coping Strategies of Young Population in Response to Severe Acute Respiratory Syndrome Corona Virus 2 (SARS-CoV-2) Outbreak: a Longitudinal Study in a Cohort of Patients Affected by Rare Skeletal Disorders.

Ego-Resiliency Scale (ER89); 14 items; 4-point Likert scale (1=does not apply at all; 2=applies slightly, if at all; 3=applies somewhat; and 4=applies very strong); Score Resiliency Trait: 47-56 Very High, 35-46 High, 23-34 Undetermined, 11-22 Low, 0-10 Very Low

Hospital Anxiety and Depression Scale (HADS); 14 items: 7 items relate to anxiety and 7 relate to depression; a 4-point (0-3) Likert-scale; Cutoffs for both HADS-anxiety and HADS-depression as \>= 8, and for HADS-total \>= 15

UCLA Loneliness Scale (Version 3); 20-item scale; 4-point rating scale (1=Never; 2=Rarely; 3=Sometimes; and 4=Often); score ranging from 20 to 80.

UCLA Loneliness Scale (Version 3); UCLA Loneliness Scale (Version 3); 20-item scale; 4-point rating scale (1=Never; 2=Rarely; 3=Sometimes; and 4=Often); score ranging from 20 to 80.

Istituto Ortopedico Rizzoli

Director of Rare Skeletal Disorders Department

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Registry of Ollier Disease and Maffucci Syndrome	NCT04134572	Ollier Disease Maffucci Syndro...		-	Istituto Ortopedico Rizzoli
Resilience and Coping in a Rare Skeletal Disease Population to Face Coronavirus (COVID-19) Outbreak Distress: a Longitudinal Study	NCT04844697	Multiple Osteoc... Osteogenesis Im... Ollier Disease Maffucci Syndro...		8 Years - 24 Years	Istituto Ortopedico Rizzoli

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