hereditary spastic paraplegia
Information
- Disease name
- hereditary spastic paraplegia
- Disease ID
- DOID:2476
- Description
- "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs." [url:http\://en.wikipedia.org/wiki/Familial_spastic_paraplegia]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| SPAST | 2 | 32,063,556 | 32,157,637 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00023075 | Completed | Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis | August 2001 | August 2003 | |
| NCT02604186 | Completed | Phase 2/Phase 3 | Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia | March 9, 2016 | March 15, 2017 |
| NCT02852278 | Completed | A Patient Centric Motor Neuron Disease Activities of Daily Living Scale | December 2016 | September 13, 2019 | |
| NCT03104088 | Completed | Studying Cognition in SPG4 | May 10, 2017 | December 24, 2017 | |
| NCT03627416 | Completed | N/A | Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy | January 9, 2017 | January 1, 2019 |
| NCT03961906 | Completed | Phase 2 | Physiotherapy in Hereditary Spastic Paraplegia | January 1, 2015 | March 30, 2017 |
| NCT04180098 | Completed | N/A | Improving Gait Adaptability in Hereditary Spastic Paraplegia | December 1, 2019 | April 15, 2022 |
| NCT04912609 | Completed | Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11) | June 30, 2021 | July 30, 2022 | |
| NCT05373082 | Completed | Identification of Modifying Factors in Hereditary Spastic Paraplegia | October 4, 2022 | October 3, 2023 | |
| NCT05613114 | Completed | N/A | Effect of Dalfampridine in Patients With Hereditary Spastic Paraplegia | August 3, 2020 | March 12, 2021 |
| NCT05767268 | Completed | Assessment of the Psychophysical State During Rehabilitation Treatment With Lokomat | February 2, 2022 | December 31, 2023 | |
| NCT02327845 | Enrolling by invitation | Phenotype, Genotype & Biomarkers in ALS and Related Disorders | April 2015 | July 2025 | |
| NCT04712812 | Recruiting | Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia | April 27, 2020 | April 26, 2025 | |
| NCT04875416 | Recruiting | Phenotype, Genotype and Biomarkers 2 | January 8, 2021 | August 2025 | |
| NCT05848271 | Recruiting | Natural History Study of Patients With HPDL Mutations | May 1, 2023 | December 31, 2024 | |
| NCT03206190 | Recruiting | N/A | The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4 | July 1, 2018 | December 2031 |
| NCT06117020 | Recruiting | Phase 1 | Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals | September 11, 2023 | May 2024 |
| NCT03981276 | Recruiting | Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders | October 14, 2019 | August 2041 | |
| NCT05354622 | Recruiting | Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq) | April 25, 2022 | April 29, 2027 | |
| NCT02859428 | Terminated | Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31 | November 18, 2016 | October 16, 2020 | |
| NCT05411627 | Withdrawn | N/A | A Pilot Study of Shockwave Therapy in HSP | January 1, 2023 | December 15, 2023 |
- Disase is a (Disease Ontology)
- DOID:607
- Cross Reference ID (Disease Ontology)
- GARD:6637
- Cross Reference ID (Disease Ontology)
- ICD10CM:G11.4
- Cross Reference ID (Disease Ontology)
- ICD9CM:334.1
- Cross Reference ID (Disease Ontology)
- MESH:D015419
- Cross Reference ID (Disease Ontology)
- MIM:PS303350
- Cross Reference ID (Disease Ontology)
- NCI:C140267
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:267692008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0037773
- Exact Synonym (Disease Ontology)
- familial spastic paraplegia
- Exact Synonym (Disease Ontology)
- French settlement disease
- Exact Synonym (Disease Ontology)
- hereditary spastic paraparesis
- Exact Synonym (Disease Ontology)
- Strumpell-Lorrain disease
- OrphaNumber from OrphaNet (Orphanet)
- 685
- ICD10 preferred id (Insert disease from ICD10)
- D0005267
- ICD10 class code (Insert disease from ICD10)
- G11.4