Clinical trials: HPRT1
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)
TOR1A, PANK2
Deep Brain Stimulation (DBS) MatchMaker
DBS Matchmaker (https://www.dbsmatchmaker.com) is a platform designed to connect clinicians worldwide who are treating rare movement disorders with deep brain stimulation (DBS).
- Conditions
- TOR1A, PANK2, HPRT1, EIF2AK2
- Trial name
- DBSMatchMaker (NCT06912841)
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Boston Children's Hospital