Call for collaborative clinical research

ERN BOND aims to favour research collaborations among network members to rapidly build up clinical series for rare skeletal disorders, to better delineate the clinical spectrum, natural history, and clinical management of these conditions.

A permanent call of collaborative clinical research is therefore open to clinicians working in the ambit of ERN BOND diseases. The call list will be disseminated through the monthly newsletter.

Maffucci syndrome and adrenal cortex tumor

Title Maffucci syndrome and adrenal cortex tumor
Target Maffucci syndrome (ORPHA:163634)
Summary Adrenal cortex tumors have been reported in some patients affected by Maffucci syndrome, although the etiopathological link between these two entities is unknown. We are collecting more cases to verify this association and to determine if a routine evaluation for involvement of the adrenal cortex should be introduced in the clinical follow up.
Submission Deadline 30/06/2025
Other specific requirements  None
Contact person  Alice Moroni
Institution  Istituto Ortopedico Rizzoli, Bologna, Italy
Contact

Rasopathies and tenosynovial giant cell tumor

Title  Rasopathies and tenosynovial giant cell tumor
Target Rasopathies (ORPHA:536391); Noonan syndrome (ORPHA:648); Tenosynovial giant cell tumor (ORPHA:66627)
Summary Tenosynovial giant cell tumor (or pigmented villonodular synovitis, PVNS) has been previously reported in Noonan syndrome; however, the exact prevalence of this association is unknown. We are collecting data from patients to determine whether the presentation of PVNS and its clinical management differ in individuals affected by Noonan syndrome. Additionally, we aim to investigate whether other RASopathies also pose a higher risk for this rare orthopedic complication.
Submission Deadline 30/06/2025
Other specific requirements None
Contact person  Alice Moroni
Institution Istituto Ortopedico Rizzoli, Bologna, Italy
Contact

A cohort of patients with Acrodysostosis: Clinical and molecular characterization

Title  A cohort of patients with Acrodysostosis: Clinical and molecular characterization
Target OMIM #101800 and OMIM #614613 or ORPHA code 950
Summary Acrodysostosis is rare skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis with nasal hypoplasia, cone-shaped epiphyses, hormonal resistance (usually thyrotropin or parathyroid hormone), and intellectual disability (ORPHA:950). Being a rare disease with less than 80 cases described worldwide, this study aims to complete the spectrum of clinical presentations, strengthen or document new genotype-phenotype correlations, and describe how this condition is managed. We are looking for patients with mutations in the PRKAR1A (iPPSD4) and the PDE4D (iPPSD5) genes to perform a retrospective clinical and molecular data analysis. The data we want to collect includes the patient’s phenotype, genotype, comorbidities, and management. This investigation is centered around expanding the phenotypic spectrum of variants and documenting the management of this disease to bolster knowledge and promote evidence-based practice.
Submission Deadline 28/02/2025
Other specific requirements None
Contact person  André Travessa
Institution  Department of medical genetics, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon
Contact

DeFiD: DEnosumab for the treatment of Fibrous Dysplasia/McCune-Albright Syndrome in adults

Title DeFiD: DEnosumab for the treatment of Fibrous Dysplasia/McCune-Albright Syndrome in adults
Target Fibrous Dysplasia/McCune-Albright Syndrome ((FD/MAS; OMIM#174800, ORPHA:249 )
Summary FD/MAS is a rare disease with high risk for pain, fractures, decreased quality of life and currently there is no cure. Study objective is to investigate whether 3 monthly Denosumab will improve the clinical, radiological and biochemical manifestations of Fibrous dysplasia bone lesions in a double-blind placebo 6 months intervention study followed by a 6 months open-label study. Patients over 18 years old with an established diagnosis of FD/MAS and persistent pain at the site of lesions with a maximum pain score of ≥4/10 as measured by the Visual Analogue Scale (VAS) will be randomized to treatment with either subcutaneous Denosumab 120mg or placebo at baseline and 3 months in a blinded fashion. At 6 months, after 2 injections, patients with pain score <4 will exit the study to discontinue study medication and proceed in usual care, while patients with pain score ≥4 or lesional growth will be offered Denosumab 120 mg at 6 and 9 months in an open-label design.
Submission Deadline 04/12/2024
Other specific requirements  None
Contact person  Natasha Appelman-Dijkstra
Institution Leiden University Medical Center, Department of Internal Medicine, Endocrinology, Leiden, The Netherlands
Contact

GNPNAT1-related skeletal dysplasia: expanding phenotype and genotype

Title  GNPNAT1-related skeletal dysplasia: expanding phenotype and genotype
Target GNPNAT1 / Rhizomelic dysplasia, Ain-Naz type (MIM 616510 )
Summary Multicentric collaboration to gather clinical and molecular data on case series of patients with identified variantes in GNPNAT1 gene. This prohject will aim to expand the clinical and molecular espectrum of this recently described group of conditions, perform funcional and metabolic studies that help clarify the physiopathology and clarifiy pathogenicity of variants.
Submission deadline 01/09/2024
Other specific requirements  Possible fibroblasts for functional and metabolic studies
Contact person  Karen Heath; Valérie Cormier-Daire; Sérgio B. Sousa
Institution INGEMM – Hospital Universitario La Paz, Madrid; Hôpital Necker-Enfants Malades, Paris; Hospital Pediátrico de Coimbra
Contact