Clinical trials: Spastic Paraplegia Type 11
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hereditary Spastic Paraplegia, Neurodegenerative Diseases
Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
The purpose of the HSP Sequencing Initiative is to better understand the role of genetics in hereditary spastic paraplegia (HSP) and related disorders.
- Conditions
- Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle
- Trial name
- NCT05354622
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Boston Children's Hospital
Hereditary Spastic Paraplegia, SPG47
Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biological samples (skin and/or blood and/or saliva) from male and female…
- Conditions
- Hereditary Spastic Paraplegia, SPG47, SPG50, SPG51
- Trial name
- HSP (NCT04712812)
- Where
- United States
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
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, Spastic Paraplegia Type 11
Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)
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
- 3AL-SPG11 (NCT04912609)
- Where
- Italy
- Volunteers
- 13 people
- Sponsor
- IRCCS Fondazione Stella Maris