Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying

Status Recruiting

Clinical Trial Summary

This is an observational multicenter retrospective and prospective study on natural history of SMA also considering the 'new natural history' secondary to the availability of commercially available therapies. All the patients enrolled to date in the Italian registry, if not part of clinical trials, will be included in the present study.

Clinical Trial Description

This is an observational multicenter retrospective and prospective study on natural history of SMA also considering the 'new natural history' secondary to the availability of commercially available therapies. All patients affected by Spinal Muscular Atrophy 5q, irrespective of genotype, phenotype, age, treatment status or gender will be enrolled in the study . The study aims to i) better understand the natural history of the disease in untreated patients in terms of functional aspects, concomitant illnesses, quality of life ii) describe the patterns of disease progression in treated and untreated patients in terms of functional aspects, concomitant illnesses, quality of life iii) Describe all the patients treated with the available therapies in Italy, in terms of demographic (age, location etc..) and epidemiological data All data from patients included in the study will be collected at each visit, following the clinical care protocols of each centre. Following care recommendation patients are generally routinely assessed at least every 6 months and, in many cases, every 4 months. We plan to obtain - Longitudinal changes in untreated patients: The possibility to access reliable retrospective data will provide the opportunity to record long term functional data in untreated patients. - Yearly analysis of longitudinal changes in treated patients: - Two-year results of the validation of new measures (SMA HI, SMAIS): reporting the validation process (inter- and intra-observer reliability, internal consistency) and changes in relation to functional measures ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT05768048
Study type	Observational
Source	Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Contact	Eugenio Mercuri, MD
Phone	063015
Email	eugeniomaria.mercuri@policlinicogemelli.it
Status	Recruiting
Phase
Start date	November 28, 2022
Completion date	November 27, 2027

View Details

See also
Status	Clinical Trial	Phase
Completed	`NCT04851873` - Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA)	Phase 3
Completed	`NCT03223051` - Development of a Space Exploration Assessment for Children With Spinal Muscular Atrophy	N/A
Completed	`NCT04335942` - Characterization of the Postural Habits of Wheelchair Users Analysis of the Acceptability of International Recommendations in the Prevention of Pressure Sores Risk by Using a Connected Textile Sensor	N/A
Recruiting	`NCT05794139` - Safety and Efficacy of NMD670 in Ambulatory Adult Patients With Type 3 Spinal Muscular Atrophy	Phase 2
Not yet recruiting	`NCT06300996` - Spinal Cord Stimulation for the Treatment of Motor Deficits in People With Spinal Muscular Atrophy - Upper Limb	N/A
Completed	`NCT02003937` - Aerobic Training in Patients With Spinal Muscular Atrophy Type III	N/A
Not yet recruiting	`NCT00961103` - Motor Development and Orthoses in Spinal Muscular Atrophy (SMA)	N/A
Completed	`NCT00227266` - Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy	Phase 2
Completed	`NCT00374075` - Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy	Phase 1
Enrolling by invitation	`NCT05539456` - Reliability and Validity of the Turkish Version of the PedsQL 3.0 Neuromuscular Module for 2-to 4- Year-old
Recruiting	`NCT05779956` - Personalized Medicine for SMA: a Translational Project
Recruiting	`NCT03300869` - Natural History of Types 2 and 3 SMA in Taiwan
Recruiting	`NCT03217578` - Neonatal Spinal Muscular Atrophy (SMA) Screening
Completed	`NCT01703988` - An Open-label Safety, Tolerability and Dose-Range Finding Study of Multiple Doses of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy	Phase 1/Phase 2
Withdrawn	`NCT02235090` - Study of Feasibility to Reliably Measure Functional Abilities' Changes in Nonambulant Neuromuscular Patients Without Trial Site Visiting	N/A
Completed	`NCT02123186` - Newborn Screening for Spinal Muscular Atrophy	N/A
Completed	`NCT00756821` - A Pilot Study of Biomarkers for Spinal Muscular Atrophy	N/A
Completed	`NCT00004771` - Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease	Phase 2
Recruiting	`NCT05366465` - Quality of Life and Participation of the Adult With Spinal Muscular Atrophy in France
Recruiting	`NCT06310421` - Spinal Muscular Atrophy Neonatal Screening Program

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

Long Term Trajectories of SMA Patients Receiving or Not Disease-modifying Treatments

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms