Identification of Modifying Factors in Hereditary Spastic Paraplegia (MODIFSPA2)

A first questionnaire - MODIFSPA conducted in 2014 - identified several environmental factors influencing spasticity in HSP: cold, fatigue, and especially physical activity. In order to improve the care of patients with HSP, The investigator team are looking to deepen the knowledge on physical exercises relieving spasticity as well as to better know the frequency of symptoms requiring additional medical care: fatigue and vesico-sphincter disorders. A new questionnaire was therefore created to collect additional information to optimize the care of patients with HSP.

Study Overview

• Status: Completed
• Conditions: Hereditary Spastic Paraplegia
• Intervention / Treatment: Other: questionnaire completion

Detailed Description

The only common symptom of hereditary spastic paraplegia (HSP) is the presence of spasticity in the lower limbs, associated with a great clinical and genetic heterogeneity.

A first MODIFSPA study carried out by the team identified environmental factors influencing spasticity: stress, fatigue, physical activity. In this first study, only spasticity was studied but several symptoms appeared to require medical management according to the patients: fatigue and vesico-sphincter disorders.

Following this first study, MODIFSPA2 aims to deepen our knowledge of HSP, via the expertise of patients, to propose a care in adequacy with their needs/demands.

Validated scales are included in the questionnaire to evaluate the frequency and intensity of the symptoms most reported by patients (fatigue, pain and mood disorders). Questions are asked to better know the frequency of symptoms requiring additional medical care: fatigue and vesico-sphincter disorders.

• Study Type: Observational
• Enrollment (Actual): 311

Contacts and Locations

• Study Contact: Name: Lallemant Pauline, MD, PH; Phone Number: +33 1 57 27 46 69; Email: pauline.lallemant@icm-institute.org
• Study Contact Backup: Name: Hilab Rania; Phone Number: +33 1 57 27 46 91; Email: rania.hilab@icm-institute.org

Study Locations

• France
  • Paris, France, 75013
    • Institut du Cerveau, ICM

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with Hereditary Spastic Paraplegia (HSP)

Description

Inclusion Criteria:

• French-speaking adult patients aware of their PSH diagnosis coming to the genetic consultation at the Pitié-Salpêtrière Hospital or informed via an association / website of the BRAINTEAM study network
• Affiliated with social security

Exclusion Criteria:

• NA

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with hereditary spastic Paraplegia	Other: questionnaire completion; Questionnaire to be completed by patients

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
factors influencing spasticity	Temperature,stress, anxiety , intercurrent infection, physical activities and tiredness are the factors influencing spasticity (common symptom of all these patients): Only questions are asked with yes and no answers	1 day

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Physical activities	Does physical activity improve your health?	1 day
Symptoms	what symptoms do you have? fatigue, pain and vesico-sphincter disorders ( answers are yes or not)	1 day
Anxiety	Determine anxiety or depressive disorders (Hospital Anxiety and Depression scale; HAD) in this population anxiety max score>11 ( minimal anxiety score<7)	1 day

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris

Study record dates

Study Major Dates

• Study Start (Actual): October 4, 2022
• Primary Completion (Actual): October 3, 2023
• Study Completion (Actual): October 3, 2023

Study Registration Dates

• First Submitted: March 4, 2022
• First Submitted That Met QC Criteria: May 9, 2022
• First Posted (Actual): May 13, 2022

Study Record Updates

• Last Update Posted (Actual): October 31, 2023
• Last Update Submitted That Met QC Criteria: October 27, 2023
• Last Verified: October 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neurologic Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Manifestations; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Paralysis; Muscle Hypertonia; Polyneuropathies; Hereditary Sensory and Motor Neuropathy; Muscle Spasticity; Paraplegia; Spastic Paraplegia, Hereditary
• Other Study ID Numbers: APHP211621

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No