A Multi-Dimensional Model of cAre and transItion for Patients With cOmplex RAre Diseases

NCT07558213 | Active Not Recruiting

• 1 other identifier: 5518
• Study Type: observational
• Target: 136
• Locations: 1 country
• Sites: 1

Brief Summary

Over the past century, the progress in biomedical sciences gave outstanding contributions to the understanding of human conditions, and even curing some of them. Recent advances in high-throughput technologies have enabled the profiling of Rare Diseases (RDs) trough genomics, transcriptomics, proteomics, and metabolomics. Regardless of the improvements in the efficiency of data generation, the research community struggles when stepping into bedside and translational processes. The lack of integrated networks between specialists of referral hospitals, local healthcare services and researchers represents a major challenge impacting outcomes of patients with RDs and overall family well-being. The "Agostino Gemelli" University Hospital (GUH) is a leader in the national and international scenario on the clinical management of individuals affected by RDs with more than10.000 patients followed per year, 19 Units certifying different RDs and 16 of them belonging to the European reference Network. Nevertheless, even though the Units by themselves have a well-organized level of competencies, the network of specialists inside and outside hospital, the transition models from pediatric to adult age and the connection between referral centers and territorial services need to be optimized. The current project aims to build the foundation of a multidimensional model helping clinicians overcoming the gaps mentioned above. Starting from the strength of a comprehensive and diversified clinical experience of specialists from GUH (HUB) and Metabolic and Genetic Unit at the Giovanni XXIII Children's Hospital in Bari (Spoke) a standardization of diagnostic and therapeutic coding according to MONDO Disease Ontology coding, Human Phenotype Ontology (HPO), and Anatomical Therapeutic Chemical (ATC) coding, will be performed. IT services will develop an electronic Case Report Form (eCRF) to collect and match data and experienced physicians will perform a functional diagnosis using the InterRAI multidimensional tools. Multiomics profiling will be performed by using the Gemelli-Science and TEchnology Park (G-STEP) facility (HUB) and the Institute for Genetic and Biomedical Research, National Research Council (Spoke) will generate induced pluripotent stem cell lines and isogenic cell lines by genome-editing technologies from selected patients with RDs. A Multidisciplinary Board for Rare Diseases (MBRD) with members of all Units will assess criteria for patient enrollment, will provide integration of clinical and molecular data and based on results, it will plan a personalized medical care strategy. To ensure the cross-sectional application of the model proposed to the broadest number of RDs, the participating Units will select four specific populations (from pediatric to adult age) affected by RDs. Measurable outcomes will arise from analysis of the mean time between first contact with the specialist and establishment of the etiologic diagnosis as well as reduction in the number of hospital visits, missed visits and loss of follow-up. The above data from patients enrolled in the present study will be compared to those collected in the two years prior Sars-Cov-2 pandemic (2017-2019) by querying data from the Regional Registry for RDs. This study performed on four major selected groups of RDs represents a model potentially applying to larger groups of RDs

Conditions

Rare Diseases; Mitochondrial Diseases; Muscular Dystrophies; Dysmorphic Disorder, Body

Keywords

Rare Diseases; Mitochondrial Diseases; Muscolar Dystrophies; Transition; Telemedicine; Multiomics

Outcome Measures

Primary Outcomes (1)

• To reduce the time needed to reach diagnosis

  To reduce the time needed to reach etiopathogenetic diagnosis in specific subgroups of patients with rare disease

  2 years

Secondary Outcomes (1)

• Use of integrated molecular diagnostic systems as a diagnostic aid

  2 years

Study Arms (2)

POST patients

Prospectively enrolled patients for diagnosis and management

Diagnostic Test: Etiopathogenetic diagnosis; Diagnostic Test: Functional diagnosis

PRE Patients

patients enrolled between 2017 and 2019, before the multidimentional model

Diagnostic Test: Etiopathogenetic diagnosis; Diagnostic Test: Functional diagnosis

Interventions

Etiopathogenetic diagnosis DIAGNOSTIC_TEST

Coding phenotype using standardized nomenclature systems, skin biopsy, blood sampling, nasal brush, and oral cavity swabs

POST patients; PRE Patients

Functional diagnosis DIAGNOSTIC_TEST

Standardized scales for functional assessment of the patient

POST patients; PRE Patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with complex syndromic RDs without a genetic diagnosis, ultra-rare diseases with or without a genetic confirmation, muscular dystrophies, mitochondrial disorders.

You may qualify if:

• complex syndromic RDs without a genetic diagnosis, ultra-rare diseases with or without a genetic confirmation, muscular dystrophies, mitochondrial disorders
• Evidence of a personally signed and dated informed consent document indicating that the subject has been informed of all pertinent aspects of the study

You may not qualify if:

• inability to understand or unwilling to follow the study requirements including attendance at the study center, completion of questionnaires and participation in laboratory testing as called for by the protocol
• inability to sign an informed consent;
• severe psychiatric diseases.

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (1)

Fondazione Policlinico Universitario A. Gemelli Irccs

Roma, 00168, Italy

Location

Biospecimen

Retention: SAMPLES WITH DNA

Samples collected are: 1 blood sample (plasma, serum, EDTA), 1 nasal brush, 1 buccal swab in all participants; tissue samples (skin biopsy for syndromes due to somatic mutations; muscular biopsy in patients with muscular dystrophies/mitochondrial disorders).

MeSH Terms

Conditions

Rare Diseases; Mitochondrial Diseases; Muscular Dystrophies; Body Dysmorphic Disorders

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Somatoform Disorders; Mental Disorders

Study Officials

• Giuseppe Zampino

  Fondazione Policlinico Universitario Agostino Gemelli IRCCS

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: March 22, 2023
• First Posted: April 30, 2026
• Study Start: October 29, 2023
• Primary Completion: January 28, 2026
• Study Completion (Estimated): May 31, 2026
• Last Updated: April 30, 2026

Record last verified: 2026-04

Locations

IT (1)