Clinical trials: Hereditary Spastic Paraplegia
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
Hereditary Spastic Paraplegia
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias (HSP) and related disorders in a prospective multicenter natural history study, identify digital, imaging and…
- Trial name
- HSP-PBP (NCT03981276)
- Testing
- Clinical rating scale to measure disease severity and progression, Next-Gen Sequencing (NGS)
- Where
- 13 sites in Austria, Germany and 1 more
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Dr. Rebecca Schule
Hereditary Spastic Paraplegia
Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia
Hereditary spastic paraplegias constitute a heterogeneous group of diseases with the common predominant feature of spasticity of the lower limbs.
- Trial name
- SPASTOX (NCT02604186)
- Testing
- Botulinum Toxin Injections
- Where
- Brazil
- Volunteers
- 55 people
- Sponsor
- University of Campinas, Brazil
Hereditary Spastic Paraplegia
Effect of Dalfampridine in Patients With Hereditary Spastic Paraplegia
There are limited but encouraging results supporting the use of dalfampridine in patients with hereditary spastic paraplegia. The investigators aimed to investigate the effects of dalfampridine on walking speed, muscle length…
- Trial name
- NCT05613114
- Testing
- Dalfampridine 10 MG, Physiotherapy
- Where
- Cyprus
- Volunteers
- 8 people
- Sponsor
- European University of Lefke
Hereditary Spastic Paraplegia Type 50
Phase 3 Efficacy Study With Concurrent Control of IT MELPIDA in SPG50.Concurrent Controls.
Phase 3, open-label study to assess the efficacy and safety of a single lumbar intrathecal administration of MELPIDA in individuals with Hereditary Spastic Paraplegia Type 50 (SPG50).
- Trial name
- SPG50 (NCT06692712)
- Testing
- MELPIDA
- Where
- 2 sites in United States, Spain
- Volunteers
- 24 people
- Sponsor
- Elpida Therapeutics SPC
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adults with neuromuscular disease (NMD).
- Conditions
- Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis, Myasthenia Gravis, Lambert-eaton Myasthenic Syndrome
- Trial name
- NCT07478172
- Testing
- Whole-body Electrical Muscle Stimulation Exercise
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of Missouri-Columbia
Hereditary Spastic Paraplegia
Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31
Background: Hereditary spastic paraplegia (HSP) usually progresses slowly. Researchers want to learn more about how its symptoms change over time.
- Trial name
- NCT02859428
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Hereditary Spastic Paraplegia
Dental-Oral and Craniofacial Characteristics of Hereditary Spastic Paraplegia: A Preliminary Study
This study aims to analyze the oral and craniofacial characteristics associated with Hereditary Spastic Paraplegia (HSP) using non-invasive complementary diagnostic tests, with the hypotesis that there is a characteristic…
- Trial name
- NCT07799233
- Where
- Spain
- Volunteers
- 50 people
- Sponsor
- University of Barcelona
Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia
Phenotype, Genotype and Biomarkers 2
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic…
- Conditions
- Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy
- Trial name
- PGB2 (NCT04875416)
- Where
- 4 sites in United States, South Africa
- Volunteers
- 217 people, healthy volunteers welcome
- Sponsor
- University of Miami
Amyotrophic Lateral Sclerosis, Lou Gehrig's Disease
Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)
The purpose of this study is to collect 650 blood and 300 cerebrospinal fluid (CSF) samples from people with amyotrophic lateral sclerosis (ALS), pure lower or upper motor neuron diseases, as well as other neurodegenerative…
- Conditions
- Amyotrophic Lateral Sclerosis, Lou Gehrig's Disease, Primary Lateral Sclerosis, Nervous System Diseases
- Trial name
- BIO_ALS-01 (NCT00677768)
- Testing
- No intervention
- Where
- 30 sites in United States, Canada
- Volunteers
- 475 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Spastic Paraplegia Type 5A, Recessive
Imaging Biomarkers in Spastic Paraplegia Type 5
This is a research study aiming to identify imaging biomarkers in patients diagnosed with spastic paraplegia type 5 (SPG5)
- Trial name
- SPIMA (NCT05174403)
- Testing
- Cerebral and spinal cord magnetic resonance imaging
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Hereditary Spastic Paraparesis
SNAP: Measurement of the Subjective Perception of the Symptom in Hereditary Spastic Paraparesis (HSP)
The Self-Notion and Perception (SNAP) questionnaire developed at IRCCS E.Medea by Eleonora Diella and Roberta Morganti, arises from the need to quantify the subjective perception of the patient suffering from HSP of the typical…
- Trial name
- NCT04256681
- Testing
- SNAP questionnaire
- Where
- Italy
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Hereditary Spastic Paraplegia
Physiotherapy in Hereditary Spastic Paraplegia
Goal of this study is to develop and evaluate a physiotherapy concept that is focused on bilateral leg spasticity and aims to reduce spastic gait disturbance and to improve mobility in patients suffering from HSP.
- Trial name
- NCT03961906
- Testing
- physiotherapy
- Where
- Germany
- Volunteers
- 53 people
- Sponsor
- University Hospital Tuebingen
Hereditary Spastic Paraplegia
Calcium Folinate Treatment of Spastic Paraplegia 56
SPG56 is one of the complicated and early-onset HSP subtypes caused by genetic mutations in CYP2U1. So far, there is no standardized and specific clinical therapy for SPG56.
- Trial name
- CFT-SPG56 (NCT06478238)
- Testing
- calcium folinate
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shanghai 6th People's Hospital
Hereditary Spastic Paraplegia, Spastic Ataxia
TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic Ataxias
Ataxias, hereditary spastic paraplegias (HSP), and spastic ataxias (collectively referred to as SPAX diseases) are rare neurological conditions that cause progressive problems with walking, balance, coordination, and daily…
- Trial name
- TreatHSP (NCT07798674)
- Where
- 30 sites in Austria, Czechia and 7 more
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Heidelberg University
Spasticity, Muscle, Microcephaly
Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
MELPIDA is proposed for the treatment of subjects with SPG50 and targets neuronal cells to deliver a fully functional human AP4M1 cDNA copy via intrathecal injection to counter the associated neuronal loss.
- Conditions
- Spasticity, Muscle, Microcephaly, Intellectual Deficiency, Growth Retardation
- Trial name
- NCT05518188
- Testing
- MELPIDA
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Elpida Therapeutics SPC
Hereditary Spastic Paraplegia, Hereditary, Spastic Paraplegia, Autosomal Dominant
The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4
Study goals 1. Prospective longitudinal data on progression in the natural course of SPG4 in presymptomatic mutation carriers prior to clinical disease onset and in early stages of disease 2.
- Trial name
- NCT03206190
- Testing
- SPRS Score and clinical signs, Cognition Testing using CANTAB, Lumbar Puncture and blood draw
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- University Hospital Tuebingen
Hereditary Spastic Paraparesis
Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
Hereditary spastic paraparesis type 11 (SPG11) is caused by mutations in the SPG11 gene that produces spatacsin, a protein involved in lysosomal function.
- Trial name
- TreatSPG11 (NCT04768166)
- Testing
- Miglustat 100 MG
- Where
- Italy
- Volunteers
- 10 people
- Sponsor
- IRCCS Fondazione Stella Maris
Hereditary Spastic Paraplegia
Neuromodulation to Enhance Motor Function in HSP
Hereditary spastic paraplegia (HSP) is a rare neurological condition that causes stiffness, weakness, and difficulty walking due to damage in the nerves that control movement.
- Trial name
- NCT07417943
- Testing
- transcutaneous spinal cord stimulation
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Rahul Sachdeva
Hereditary Spastic Paraplegia
Flexibility, Resistance, Aerobic, Movement Execution Training in Adults With Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia (HSP) is a diverse group of genetic neurological conditions causing progressive weakness and spasticity in the lower limbs, severely reducing balance and gait capabilities.
- Trial name
- FRAME (NCT06742697)
- Testing
- Flexibility, Resistance, Aerobic, Movement Execution training
- Where
- 2 sites in Italy
- Volunteers
- 20 people
- Sponsor
- IRCCS Eugenio Medea