Fondazione Telethon

STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies

Role: collaborator

Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant

Role: collaborator

A Clinical Study to Evaluate the Use of a Cryopreserved Formulation of OTL-103 in Subjects With Wiskott-Aldrich Syndrome

Role: lead

Combination of Ibuprofen, G-CSF and Plerixafor as Stem Cells Mobilization Regimen in Patients Affected by X-CGD

Role: collaborator

Gene Therapy for Wiskott-Aldrich Syndrome

Role: lead

Natural History Study in Subjects With Usher Syndrome

Role: lead

Familiar Fatal Insomnia: Preventive Treatment With Doxycycline in Subject With Disease Risk

Role: collaborator

Gene Therapy in Patients With Mucopolysaccharidosis Disease

Role: lead

Targeting the Gut to Improve Seizure Control in CDKL5 Deficiency Disorder (CDD)

Role: collaborator

Retroviral Insertion Site Methodology Study

Role: lead

ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID

Role: lead

Methodology Study of Retroviral Insertion Site Analysis in Strimvelis Gene Therapy

Role: lead

Strimvelis Registry Study to Follow-up Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID)

Role: lead

Evaluating the Effectiveness of STRIMVELIS Risk Minimization Measures (RMMs)

Role: lead

Use of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency.

Role: lead

Gene Therapy for Transfusion Dependent Beta-thalassemia

Role: collaborator

Treatment of Low Bone Density in Cystic Fibrosis.

Role: collaborator

Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease

Role: collaborator

Gene Therapy for ADA-SCID

Role: collaborator